Microcephaly
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Well established gene-disease association, with microcephaly a reported feature.
Sources: LiteratureCreated: 2 Sep 2020, 6:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800
Publications
- PMID: 20301516
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cockayne syndrome, type B, MIM#133540
- Cerebrooculofacioskeletal syndrome 1, MIM#214150
- De Sanctis-Cacchione syndrome, MIM#278800
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Publications
-
- PMID: 20301516
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- Blepharophimosis
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Mendeliome
- Photosensitivity Syndromes
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ercc6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ercc6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Naomi Baker (Victorian Clinical Genetics Services)gene: ERCC6 was added gene: ERCC6 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6 were set to PMID: 20301516 Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800 Penetrance for gene: ERCC6 were set to Complete Review for gene: ERCC6 was set to GREEN