Brain Calcification

Gene: GJA1

Green List (high evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Brain calcification appears to be a variable feature of the ODDD phenotype
Created: 28 Apr 2023, 7:13 a.m. | Last Modified: 28 Apr 2023, 7:13 a.m.
Panel Version: 1.54

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 26444782 reports a patient with a heterozygous missense GJA1 variant who developed bilateral calcifications of the basal ganglia and mild hydrocephalus.
PMID 31023660 reports 2 patients with missense GJA1 variants who developed brain calcifications. Patients 4 and 7 had unilateral and bilateral calcifications, respectively.
PMID 31240666 reports a patient with a homozygous GJA1 variant who developed bilateral calcification of the basal ganglia, thalamus and deep white matter.
Sources: Expert list
Created: 11 Apr 2023, 12:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculodentodigital dysplasia, MIM# 164200

Publications

History Filter Activity

28 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gja1 has been classified as Green List (High Evidence).

28 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gja1 has been classified as Green List (High Evidence).

28 Apr 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gja1 has been classified as Green List (High Evidence).

11 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: GJA1 was added gene: GJA1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA1 were set to 26444782; 31023660; 31240666 Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, MIM# 164200 Review for gene: GJA1 was set to RED