Structural eye disease
Gene: ERCC2
cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; 601675
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675
Phenotypes for gene: ERCC2 were changed from TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 to TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675; Cerebrooculofacioskeletal syndrome 2, 610756
Source NHS GMS was added to ERCC2. Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675 for gene: ERCC2
gene: ERCC2 was added gene: ERCC2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC2 was set to Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756