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Arthrogryposis

Gene: SCYL2

No list

SCYL2 (SCY1 like pseudokinase 2)
EnsemblGeneIds (GRCh38): ENSG00000136021
EnsemblGeneIds (GRCh37): ENSG00000136021
OMIM: 616365, Gene2Phenotype
SCYL2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

2 unrelated consanguineous families reported with AMC. Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits.
Sources: Literature
Created: 3 Jun 2020, 10:53 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
Phenotypes
  • Arthrogryposis multiplex congenita (AMC)
  • Zain syndrome
OMIM
616365
Clinvar variants
Variants in SCYL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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