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Limb disorders

Gene: ERCC4

Green List (high evidence)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 20 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed status from Red to Green due to evidence in the literature
Created: 27 Feb 2017, 9:55 a.m.
Comment on phenotypes: omitted those phenotypes not relevant to this panel ( do not describe anaemia as a clinical outcome), specific mutations in ERCC4 are associated with xeroderma pigmentosum (OMIM: 278760) and XFE progeroid syndrome (OMIM: 610965)
Created: 24 Feb 2017, 3:10 p.m.
Comment on publications: Added PMID: 24027083. In addition to the report of 2 individuals w/FA & biallelic ERCC4 pathogenic variants (PMID:23623386); there was a subsequent paper published a few months later, functional studies identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair (PMID: 24027083). Also the four variants are confirmed in the Leiden Open Variation Database (Fanconi anemia mutation database).
Created: 24 Feb 2017, 3:10 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

A third case has been repoted for fanconi anaemia (PMID: 23623389).
Created: 24 Feb 2017, 3:57 p.m.

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: In biallelic form, sufficient evidence of causation for FA and therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 10:13 a.m.
Comment on list classification: 3 cases and functional data supportive of causation.
Created: 11 May 2017, 10:11 a.m.
Only two unrelated patients with the Fanconi presentation (therefore relevant to this panel) both with compound heterozygous mutations (truncating / missense combination) however paper undertook functional validation including abnormal chromosome breakage but cases were ascertained as having Fanconi for inclusion. Therefore I am not certain this is independent functional evidence.
Created: 16 Feb 2017, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group Q 615272; Xeroderma pigmentosum, group F 278760; Xeroderma pigmentosum, type F/Cockayne syndrome 278760

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Only two unrelated patients wi

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ERCC4. Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4 Publications for gene ERCC4 were changed from to 23623389; 23623386; 24027083

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC4 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ERCC4 was created by Ellen McDonagh