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  3. AP1S2
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Ataxia - paediatric

Gene: AP1S2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pettigrew syndrome is characterized by ID and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain.

More than 50 individuals reported.
Created: 30 Apr 2022, 7:23 a.m. | Last Modified: 30 Apr 2022, 7:23 a.m.
Panel Version: 0.13469

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

Phenotypes
Pettigrew syndrome, MIM# 304340

Publications

Created: 30 Apr 2022, 7:23 a.m.
Last Modified: 30 Apr 2022, 7:23 a.m.
Panel version: Imported from Mendeliome panel version 0.13469

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ataxia is part of the phenotype
Sources: Expert list
Created: 27 Dec 2019, 4:07 a.m.

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

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

Created: 27 Dec 2019, 4:07 a.m.

Panel version: 0.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pettigrew syndrome, MIM# 304340
OMIM
300629
Clinvar variants
Variants in AP1S2
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

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

27 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ap1s2 has been classified as Green List (High Evidence).

27 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ap1s2 has been classified as Green List (High Evidence).

27 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AP1S2 was added gene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340 Review for gene: AP1S2 was set to GREEN