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STRs in panel
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Severe microcephaly

Gene: ERCC5

Red List (low evidence)

ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 14 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

PMID 9096355 identified a homozygous LoF variant in a boy with microcephaly but this publication was later retracted over data in Figure 6. PMID 24700531 describes 4 fetuses from a large consanguineous Pakistani kindred with a homozygous LoF variant. All were said to be microcephalic with no measurements given. PMID 32052936 describes another 3 microcephalic fetuses from 2 families with homozygous LoF variants, again no measurements given. 3 families described in total but head circumference measurements of affected fetuses not provided so rated Amber.
Created: 2 Sep 2020, 9:34 a.m. | Last Modified: 2 Sep 2020, 9:34 a.m.
Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 3 MIM#616570

Publications

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Rebecca Foulger (Genomics England curator)

Comment on list classification: Only 2 cases reported for COFS3 syndrome (including one from a retracted paper), so kept rating as red.
Created: 9 Feb 2017, 2:45 p.m.
In 4 fetuses from a large consanguineous Pakistani kindred with COFS3, Drury et al. (2014, PMID:24700531) identified a homozygous truncating mutation in the ERCC5 gene.
Created: 9 Feb 2017, 2:43 p.m.
In a boy, born of consanguineous Moroccan parents, with cerebrooculofacioskeletal syndrome-3 (COFS3; 616570) originally reported by Hamel et al. (1996), Nouspikel et al. (1997, PMID: 9096355) identified a homozygous truncating mutation in the ERCC5 gene. Note that PMID: 9096355 has since been retracted over Figure 6 data.
Created: 9 Feb 2017, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 3, 616570 (Microcephaly); Xeroderma pigmentosum, group G/Cockayne syndrome, 278780

Publications

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERCC5.

2 Mar 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

9 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

9 Feb 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ERCC5 was created by rfoulger

9 Feb 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ERCC5 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature