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Intellectual disability syndromic and non-syndromic

Gene: AJAP1

Green List (high evidence)

AJAP1 (adherens junctions associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000196581
EnsemblGeneIds (GRCh37): ENSG00000196581
OMIM: 610972, Gene2Phenotype
AJAP1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available.
Sources: Literature
Created: 24 Oct 2024, 5:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092, AJAP1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092, AJAP1-related
OMIM
610972
Clinvar variants
Variants in AJAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ajap1 has been classified as Green List (High Evidence).

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ajap1 has been classified as Green List (High Evidence).

24 Oct 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AJAP1 was added gene: AJAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AJAP1 were set to 38985877 Phenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related Review for gene: AJAP1 was set to GREEN