Brain Calcification
Gene: GJA1Comment on list classification: Brain calcification appears to be a variable feature of the ODDD phenotypeCreated: 28 Apr 2023, 7:13 a.m. | Last Modified: 28 Apr 2023, 7:13 a.m.
Panel Version: 1.54
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 listCreated: 11 Apr 2023, 12:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia, MIM# 164200
Publications
Gene: gja1 has been classified as Green List (High Evidence).
Gene: gja1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: gja1 has been classified as Green List (High Evidence).
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