Hydrocephalus
Gene: AP1S2The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:24 p.m. | Last Modified: 31 Jan 2023, 5:24 p.m.
Panel Version: 3.5
Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.
As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).Created: 18 Oct 2021, 11:49 a.m. | Last Modified: 12 Oct 2022, 2:52 p.m.
Panel Version: 2.132
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Several families with nonsense and splice mutations. Hydrocephalus reported but variableCreated: 9 May 2017, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic 5
Publications
Tag Q4_21_MOI was removed from gene: AP1S2.
Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AP1S2 were set to 17186471
Tag Q4_21_MOI tag was added to gene: AP1S2.
Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, OMIM:304340 to Pettigrew syndrome, OMIM:304340
Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic, OMIM:5 to Mental retardation, X-linked syndromic 5, OMIM:304340
Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 to Mental retardation, X-linked syndromic, OMIM:5
Source NHS GMS was added to AP1S2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
AP1S2 was added to Hydrocephaluspanel. Source: Expert Review Green
AP1S2 was added to Hydrocephaluspanel. Sources: Literature
AP1S2 was created by helen.brittain