Microcephaly
Gene: ERCC5EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 18 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
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.
Sources: LiteratureCreated: 2 Sep 2020, 7:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3 MIM#616570
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cerebrooculofacioskeletal syndrome 3 MIM#616570
- OMIM
- 133530
- Clinvar variants
- Variants in ERCC5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Blepharophimosis
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Photosensitivity Syndromes
- Prepair 500+
- Callosome
- Growth failure
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ERCC5 were set to 32052936
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ERCC5 were set to 32052936; 32052936
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ercc5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ercc5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: ERCC5 was added gene: ERCC5 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 32052936; 32052936 Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3 MIM#616570 Review for gene: ERCC5 was set to AMBER gene: ERCC5 was marked as current diagnostic