Arthrogryposis
Gene: SCYL2EnsemblGeneIds (GRCh38): ENSG00000136021
EnsemblGeneIds (GRCh37): ENSG00000136021
OMIM: 616365, Gene2Phenotype
SCYL2 is in 3 panels
1 review
Kristin Rigbye (Victorian Clinical Genetics Services)
2 unrelated consanguineous families reported with AMC (PMID: 31960134).
Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146).
Sources: LiteratureCreated: 1 Jun 2020, 4:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita (AMC); Zain syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Arthrogryposis multiplex congenita (AMC)
- Zain syndrome
- OMIM
- 616365
- Clinvar variants
- Variants in SCYL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Kristin Rigbye (Victorian Clinical Genetics Services)gene: SCYL2 was added gene: SCYL2 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL2 were set to 31960134; 26203146 Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome Review for gene: SCYL2 was set to AMBER