Arthrogryposis
Gene: AP1S2

AP1S2 (adaptor related protein complex 1 sigma 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Contractures are mentioned in the OMIM summary for this disorder, but do not appear to be a common/prominent feature.
Created: 10 Jul 2020, 10:51 a.m. | Last Modified: 10 Jul 2020, 10:51 a.m.

Panel Version: 0.73

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked syndromic 5, MIM# 304340

Publications

30714330

Created: 10 Jul 2020, 10:51 a.m.
Last Modified: 10 Jul 2020, 10:51 a.m.
Panel version: 0.73

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Pettigrew syndrome, MIM# 304340

OMIM

300629

Clinvar variants

Variants in AP1S2

Penetrance

None

Publications

30714330

Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340

3 Oct 2024, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340

3 Oct 2024, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM# 304340 to Pettigrew syndrome, MIM# 304340

10 Jul 2020, Gel status: 1