- Analytes
- GAS1
GAS1
Name: |
growth arrest specific 1
|
Symbol: |
GAS1
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
Growth arrest-specific gene-1
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
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Brain malformations (34 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASPM 98.88 0 CCDC88C 100.00 0 CDK5RAP2 99.64 0 CDON 100.00 0 CENPJ 100.00 0 CEP135 100.00 0 CEP152 99.96 0 DISP1 100.00 0 DLL1 100.00 0 FGF8 99.79 0 FGFR1 94.19 0 FOXH1 100.00 0 GAS1 100.00 0 GCM2 78.95 0 GLI2 100.00 0 L1CAM 96.28 0 MCPH1 99.98 0 MPDZ 99.70 0 NODAL 100.00 0 SLC25A15 99.87 0 ORC4 100.00 0 ORC6 100.00 0 PCNT 100.00 0 PTCH1 99.88 0 SHH 98.82 0 SIX3 99.47 0 SMAD2 99.61 0 STIL 100.00 0 SUFU 100.00 0 CRIPTO 100.00 0 TGIF1 100.00 0 TRMT10A 100.00 0 WDR62 100.00 0 ZIC2 100.00 0 -
Endocrine Disorders - Hypothyroidism (42 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments DUOX2 100.00 0 Endocrine Disorders - Hypothyroidism DUOXA2 100.00 0 Endocrine Disorders - Hypothyroidism FOXE1 85.24 0 Endocrine Disorders - Hypothyroidism GAS1 78.95 0 Endocrine Disorders - Hypothyroidism GLIS3 100.00 0 Endocrine Disorders - Hypothyroidism GNA11 99.57 0 Endocrine Disorders - Hypothyroidism GNAS 100.00 0 Endocrine Disorders - Hypothyroidism GNAS-AS1 100.00 0 Endocrine Disorders - Hypothyroidism HESX1 100.00 0 Endocrine Disorders - Hypothyroidism IGSF1 100.00 0 Endocrine Disorders - Hypothyroidism IYD 100.00 0 Endocrine Disorders - Hypothyroidism LHX3 90.58 0 Endocrine Disorders - Hypothyroidism LHX4 100.00 0 Endocrine Disorders - Hypothyroidism NKX2-1 97.73 0 Endocrine Disorders - Hypothyroidism NKX2-5 100.00 0 Endocrine Disorders - Hypothyroidism OTX2 100.00 0 Endocrine Disorders - Hypothyroidism PAX8 99.96 0 Endocrine Disorders - Hypothyroidism POU1F1 100.00 0 Endocrine Disorders - Hypothyroidism PRKAR1A 100.00 0 Endocrine Disorders - Hypothyroidism PROP1 100.00 0 Endocrine Disorders - Hypothyroidism SECISBP2 97.69 0 Endocrine Disorders - Hypothyroidism SLC5A5 99.97 0 Endocrine Disorders - Hypothyroidism SLC16A2 99.51 0 Endocrine Disorders - Hypothyroidism SLC26A4 99.97 0 Endocrine Disorders - Hypothyroidism SOX3 97.06 0 Endocrine Disorders - Hypothyroidism STX16 99.93 0 Endocrine Disorders - Hypothyroidism TBL1X 99.87 0 Endocrine Disorders - Hypothyroidism TG 100.00 0 Endocrine Disorders - Hypothyroidism THRA 100.00 0 Endocrine Disorders - Hypothyroidism THRB 100.00 0 Endocrine Disorders - Hypothyroidism THPO 99.80 0 Endocrine Disorders - Hypothyroidism TRHR 100.00 0 Endocrine Disorders - Hypothyroidism TSHB 100.00 0 Endocrine Disorders - Hypothyroidism TSHR 100.00 0 Endocrine Disorders - Hypothyroidism -
Malformations of cortical development (235 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADGRG1 100.00 0 No comment AGBL2 96.33 0 No comment AHI1 100.00 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment AP1S2 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPM 100.00 0 No comment ASXL1 99.91 0 No comment ATP6V0A2 100.00 0 No comment ANTXR1 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GAT1 100.00 0 No comment BICD2 100.00 0 No comment C2CD3 100.00 0 No comment CACNA1E 100.00 0 No comment CASK 100.00 0 No comment CCND2 100.00 0 No comment CDK5 100.00 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDON 100.00 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP55 100.00 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CIT 100.00 0 No comment CKAP2L 100.00 0 No comment CNOT1 100.00 0 No comment CNTNAP2 99.85 0 No comment COL18A1 97.80 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CRADD 100.00 0 No comment CRPPA 95.75 0 No comment CSPP1 100.00 0 No comment CUL4B 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DCHS1 99.64 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDX3X 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR7 100.00 0 No comment DISP1 100.00 0 No comment DKC1 100.00 0 No comment DOCK6 99.12 0 No comment DYNC1H1 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EMG1 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERMARD 100.00 0 No comment EZH2 100.00 0 No comment FAT4 100.00 0 No comment FGF8 94.82 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FOXC1 62.57 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FUBP1 100.00 0 No comment GAS1 62.99 0 No comment GLI2 95.11 0 No comment GMPPB 100.00 0 No comment GNAQ 100.00 0 No comment GPC3 100.00 0 No comment GPSM2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2B 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HNRNPU 99.54 0 No comment HSD17B4 100.00 0 No comment HYLS1 100.00 0 No comment IER3IP1 99.93 0 No comment INTS8 100.00 0 No comment JAM3 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNB1 100.00 0 No comment KDM5C 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF21B 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KNL1 98.62 0 No comment L1CAM 100.00 0 No comment LAMA1 99.93 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment MACF1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP1B 100.00 0 No comment MAPK8IP3 99.25 0 No comment MCPH1 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD2A 100.00 0 No comment MID1 100.00 0 No comment MPDZ 100.00 0 No comment MTOR 100.00 0 No comment MYCN 86.70 0 No comment MYH10 100.00 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEDD4L 100.00 0 No comment NFIB 100.00 0 No comment NHEJ1 100.00 0 No comment NIPBL 99.98 0 No comment NODAL 99.99 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NR2F1 92.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment OCLN 100.00 0 No comment OFD1 99.88 0 No comment PAFAH1B1 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PEX1 100.00 0 No comment PI4KA 99.44 0 No comment PIGA 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PITX2 100.00 0 No comment PLK4 100.00 0 No comment PNKP 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PRRX1 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PYCR2 100.00 0 No comment QARS1 100.00 0 No comment RAB18 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RELN 99.96 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment RNU4ATAC 100.00 0 No comment RTTN 100.00 0 No comment RXYLT1 99.84 0 No comment SAMHD1 100.00 0 No comment SCN3A 100.00 0 No comment SETD5 100.00 0 No comment SF3B4 100.00 0 No comment SHH 92.83 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment SLC25A19 100.00 0 No comment SLC35A2 100.00 0 No comment SLC9A6 99.96 0 No comment SMPD4 99.97 0 No comment SNAP29 100.00 0 No comment SOX9 97.88 0 No comment AFG2A 100.00 0 No comment SRD5A3 99.42 0 No comment SRPX2 100.00 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TGIF1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM67 100.00 0 No comment TMX2 100.00 0 No comment TREX1 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB 99.87 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUBGCP4 99.99 0 No comment TUBGCP6 100.00 0 No comment UBE3A 100.00 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment WDR62 100.00 0 No comment WDR73 100.00 0 No comment YWHAE 98.69 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment ZSWIM6 88.87 0 No comment -
Thyroid disgenesis (38 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AP2S1 100.00 0 No comment CASR 100.00 0 No comment CDCA8 100.00 0 No comment DUOX1 100.00 0 No comment DUOX2 100.00 0 No comment DUOXA2 100.00 0 No comment DYRK1A 100.00 0 No comment ELN 100.00 0 No comment FOXE1 60.48 0 No comment GAS1 62.99 0 No comment GLIS3 100.00 0 No comment GNA11 99.51 0 No comment GNAS 98.96 0 No comment GNAS-AS1 100.00 0 No comment IYD 100.00 0 No comment JAG1 99.66 0 No comment KAT6B 100.00 0 No comment KDM6A 100.00 0 No comment KMT2D 100.00 0 No comment NKX2-1 92.46 0 No comment NKX2-5 100.00 0 No comment NTN1 95.84 0 No comment PAX8 100.00 0 No comment SALL1 100.00 0 No comment SECISBP2 98.68 0 No comment SLC11A2 100.00 0 No comment SLC26A4 99.99 0 No comment SLC26A7 100.00 0 No comment SLC5A5 100.00 0 No comment STX16 100.00 0 No comment TBX1 77.39 0 No comment TG 100.00 0 No comment THRA 100.00 0 No comment THRB 100.00 0 No comment THPO 99.84 0 No comment TSHR 100.00 0 No comment TUBB1 100.00 0 No comment URB1 99.99 0 No comment