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  3. AP1S2
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Brain Calcification

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

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification.
Created: 27 Mar 2023, 7:10 p.m. | Last Modified: 30 Mar 2023, 5:18 a.m.
Panel Version: 1.43

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

Phenotypes
Pettigrew syndrome; Fried syndrome; PG5

Publications

Created: 27 Mar 2023, 7:10 p.m.
Last Modified: 30 Mar 2023, 5:18 a.m.
Panel version: 1.43

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Iron and calcium deposition in the brain is a feature of this condition.
Sources: Expert list
Created: 14 Jan 2020, 10:40 p.m.

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

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

Created: 14 Jan 2020, 10:40 p.m.

Panel version: 0.5

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pettigrew syndrome, MIM# 304340
OMIM
300629
Clinvar variants
Variants in AP1S2
Penetrance
None
Publications
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 Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340

3 Oct 2024, Gel status: 3

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: 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

28 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP1S2 were set to

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP1S2 was added gene: AP1S2 was added to Brain calcification_VCGS. 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