Genes in panel

Hereditary ataxia - adult onset

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 15 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 13 Sep 2020, 8:22 a.m. | Last Modified: 13 Sep 2020, 8:22 a.m.
Panel Version: 2.9

Phenotypes
Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple families reported in the literature - all appear to be LoF
Created: 15 Apr 2019, 10:06 a.m.

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

Phenotypes
Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Pettigrew syndrome, OMIM:304340
Tags
Q2_21_phenotype
OMIM
300629
Clinvar variants
Variants in AP1S2
Penetrance
None
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574 to Pettigrew syndrome, OMIM:304340

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome to Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574

26 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: AP1S2.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome for gene: AP1S2

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AP1S2.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to AP1S2.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: AP1S2 was added gene: AP1S2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)