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Intellectual disability v7.46 STX1A Arina Puzriakova Tag gene-checked tag was added to gene: STX1A.
Intellectual disability v7.41 STX1A Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: STX1A.
Intellectual disability v7.41 STX1A Achchuthan Shanmugasundram commented on gene: STX1A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.40 STX1A Achchuthan Shanmugasundram Source NHS GMS was added to STX1A.
Source Expert Review Green was added to STX1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.30 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.30 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.30 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.29 STX1A Achchuthan Shanmugasundram gene: STX1A was added
gene: STX1A was added to Intellectual disability. Sources: Literature
Q2_24_promote_green tags were added to gene: STX1A.
Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STX1A were set to 36564538
Phenotypes for gene: STX1A were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Review for gene: STX1A was set to GREEN
Added comment: PMID:36564538 reported the identification of monoallelic STX1A variants in six unrelated individuals (five of them de novo and one unknown) and biallelic variants in two related individuals. All of them presented with a neurodevelopmental disorder and had intellectual disability (Both homozygous individuals had moderate ID, three heterozygous individuals had severe ID. one had profound ID and two had moderate ID).

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but has not yet been associated with phenotypes in OMIM.
Sources: Literature