ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit
OMIM: 609412
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A 216400
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome type A MIMID, UV-sensitive syndrome 2, confirmed DD gene for Cockayne Syndrome Type A
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COCKAYNE SYNDROME TYPE A 216400
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COCKAYNE SYNDROME TYPE A
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621, COCKAYNE SYNDROME TYPE A (CSA)
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A 216400
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A, 216400 (Microcephaly)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PMID: 26204423, UV-sensitive syndrome, Cockayne syndrome phenotype and UV-sensitive syndrome, Cockayne syndrome, type A, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cockayne Syndrome
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A, Cockayne syndrome phenotype and UV-sensitive syndrome, PMID: 26204423