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Cockayne syndrome

Gene: ERCC4

Red List (low evidence)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 15 panels

1 review

Ellen McDonagh (Genomics England Curator)

Two cases reported in OMIM for Xeroderma pigmentosum, type F/Cockayne syndrome, and it is a confirmed DD gene for Xeroderma pigmentosum, group F.
16 Aug 2016, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, type F Cockayne syndrome, 278760

History

16 Aug 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ERCC4 were set to Xeroderma pigmentosum, type F Cockayne syndrome, 278760

16 Aug 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC4 was added to Cockayne syndromepanel. Sources: Radboud University Medical Center, Nijmegen

16 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERCC4 was created by ellenmcdonagh