Clefting
Gene: GJA1Comment on list classification: Enough evidence in the literature to support this gene and disorder in the clefting panelCreated: 30 May 2017, 3:16 p.m.
Comment on publications: Paznekas et al. (2009) reported secondary features observed more frequently in these ODDD patients than in the general population included cleft palate (CP), seen in six unrelated ODDDindividuals (3% of 177 ODDD individuals). Also clefting noted in PMID:1057461 (one case) and PMID:12457340 2 cases (1 family) noted as having clefting.Created: 30 May 2017, 3:15 p.m.
Only added phenotypes associated to this gene where clefting is a featureCreated: 30 May 2017, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Oculodentodigital dysplasia,164200
Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia,164200; ODDD to Oculodentodigital dysplasia, OMIM:164200
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for GJA1 were set to Oculodentodigital dysplasia,164200; ODDD
GJA1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Publications for GJA1 were set to 19338053; 12457340;15108203;1057461
GJA1 was added to Cleftingpanel. Sources: Expert list
GJA1 was created by LouiseD