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Intellectual disability

Gene: AP1S1

Green List (high evidence)

AP1S1 (adaptor related protein complex 1 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: extended phenotype description, added OMIM MIMid
Created: 17 Sep 2018, 10:11 a.m.
Comment on list classification: New gene added by external reviewer. Rated green based on external review comment, internal assessment (supportive functional data) and further publications to support gene-disease association.
Created: 17 Sep 2018, 10:05 a.m.
New gene added by external expert review, who notes French Canadian (founder effect); however, Sephardic Jewish family also reported with a different variant. ID is part of the phenotype, added publication to support gene-disease association.
The patients cases described in the literature to date are likely to be linked to a founder effect. 5 children from 3 families all from Quebec, Canada (with the same mutation) and 1 patient from a consanguineous Sephardic-Jewish background has been described (a different mutation in AP1S1).
However, this gene was rated Green on the Vici Syndrome and other autophagy disorders panel for MEDNIK syndrome after discussion with Emma Baple (South West GMC and Genomics England); as there is a second, independent case with a different variant, plus functional data, so this gene can be green on the ID panel, since intellectual disability is part of the phenotype
Created: 17 Sep 2018, 10:02 a.m.
Comment on publications: Additional publications to support upgrading of the gene to Green
Created: 17 Sep 2018, 9:44 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Most reported families are French Canadian (founder effect); however, Sephardic Jewish family also reported with a different variant. ID is part of the phenotype. Merits at least Amber.
Created: 22 Jun 2018, 10:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MEDNIK syndrome

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • MEDNIK syndrome, 609313
  • MEDNIK syndrome
  • mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
OMIM
603531
Clinvar variants
Variants in AP1S1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AP1S1.

17 Sep 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome to MEDNIK syndrome, 609313; MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ap1s1 has been classified as Green List (High Evidence).

17 Sep 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: AP1S1 were set to 23423674

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

AP1S1 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

AP1S1 was created by Zornitza Stark