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Early onset or syndromic epilepsy v7.7 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.7 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are five unrelated cases, the epilepsy phenotype is broad and there is contradictory functional evidence. Hence, this gene is currently rated as amber.

The 'watchlist' tag has been added to keep track of any new evidence.
Early onset or syndromic epilepsy v7.7 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: AJAP1.
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene, of which four patients presented with epilepsy.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Hannah Knight, PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene. Although four of these patients presented with seizures, the type of seizures varied across these individuals.

Two of these five cases had a conclusion of either 'benign' or 'unknown' in their evaluation of pathogenicity, where 'benign' was one of the four cases with seizures, where 'unknown' was the fifth case without seizures. One of the cases (Individual 1) has a missense variant that was evaluated as 'pathogenic'. But, functional studies in monoallelic knock in mice was not clearly supportive of this conclusion and the EEG in this mice appeared equivalent to wild type mouse. In addition, all missense variants of this gene in ClinVar are rated as VUS / benign.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram edited their review of gene: AJAP1: Changed rating: AMBER
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AJAP1.
Tag Q3_24_NHS_review was removed from gene: AJAP1.
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.13 AJAP1 Achchuthan Shanmugasundram Phenotypes for gene: AJAP1 were changed from Epileptic seizures; developmental disorder; intellectual disability to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.12 AJAP1 Achchuthan Shanmugasundram Publications for gene: AJAP1 were set to 38985877
Early onset or syndromic epilepsy v6.12 AJAP1 Achchuthan Shanmugasundram Publications for gene: AJAP1 were set to PMID: 38985877
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AJAP1.
Tag Q3_24_NHS_review tag was added to gene: AJAP1.
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram edited their review of gene: AJAP1: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, there are five unrelated individuals reported with monoallelic variants or a deletion in AJAP1 gene, of which four patients presented with epilepsy.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Hannah Knight, PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene, of which four patients presented with epilepsy.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram reviewed gene: AJAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38985877; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.11 AJAP1 Hannah Knight gene: AJAP1 was added
gene: AJAP1 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to PMID: 38985877
Phenotypes for gene: AJAP1 were set to Epileptic seizures; developmental disorder; intellectual disability
Review for gene: AJAP1 was set to GREEN
Added comment: PMID: 38985877 (2024) identified five individuals with monoallelic variants or a deletion in AJAP1, who present with epilepsy, neurodevelopmental problems, or intellectual disability
Also included functional work
Sources: Literature