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Fetal anomalies

Gene: GJA1

Green List (high evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 23 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance.
Created: 24 Mar 2019, 8:24 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with monoallelic (Atrioventricular septal defects) and biallelic (Hypoplastic left heart syndrome 1) inheritance.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for HALLERMANN-STREIFF SYNDROME, Confirmed for HYPOPLASTIC LEFT HEART SYNDROME, Confirmed for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, and Confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, and listed as All missense/in frame for HALLERMANN-STREIFF SYNDROME and HYPOPLASTIC LEFT HEART SYNDROME. MOP listed as LOF for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA.
Created: 8 Nov 2018, 4:45 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

History Filter Activity

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA for gene: GJA1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA for gene: GJA1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME for gene: GJA1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GJA1 was added gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME