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Date	Panel	Item	Activity
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16 Jul 2026	Mendeliome v2.229	SEMA6A	chirag patel changed review comment from: PMID 42336675 reports 11 unrelated individuals with developmental delay, intellectual disability, autism spectrum disorder, ODD, ADHD, hypotonia, and brain anomalies. 5 individuals had small deletions (≤ 1.25 Mb) involving SEMA6A and 6 individuals had rare heterozygous SEMA6A variants (4 loss‑of‑function and 2 missense). The variants were de novo in 3 families (2 missense, 1 nonsense), inherited from a parent who was unaffected or had unknown clinical status in 5 families (1 nonsense, 1 frameshift, 1 splice, 2 deletions), or had unknown inheritance in 3 families (3 deletions). SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. No functional studies performed in PMID 42336675, but Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory (PMID 22132072). Sources: Literature; to: PMID 42336675 reports 11 unrelated individuals with developmental delay, intellectual disability, autism spectrum disorder, ODD, ADHD, hypotonia, and brain anomalies. 5 individuals had small deletions (≤ 1.25 Mb) involving SEMA6A and 6 individuals had rare heterozygous SEMA6A variants (4 loss‑of‑function and 2 missense). The variants were de novo in 3 families (2 missense, 1 nonsense), inherited from a parent who was unaffected or had unknown clinical status in 5 families (1 nonsense, 1 frameshift, 1 splice, 2 deletions) suggesting incomplete penetrance, or had unknown inheritance in 3 families (3 deletions). SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. No functional studies performed in PMID 42336675, but Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory (PMID 22132072). Sources: Literature
16 Jul 2026	Mendeliome v2.229	SEMA6A	chirag patel Marked gene: SEMA6A as ready
16 Jul 2026	Mendeliome v2.229	SEMA6A	chirag patel Gene: sema6a has been classified as Green List (High Evidence).
16 Jul 2026	Mendeliome v2.229	SEMA6A	chirag patel Classified gene: SEMA6A as Green List (high evidence)
16 Jul 2026	Mendeliome v2.229	SEMA6A	chirag patel Gene: sema6a has been classified as Green List (High Evidence).
16 Jul 2026	Mendeliome v2.228	SEMA6A	chirag patel gene: SEMA6A was added gene: SEMA6A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SEMA6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA6A were set to 38062045,22132072 Phenotypes for gene: SEMA6A were set to Neurodevelopmental disorder, MONDO:0700092; SEMA6A-related Review for gene: SEMA6A was set to GREEN Added comment: PMID 42336675 reports 11 unrelated individuals with developmental delay, intellectual disability, autism spectrum disorder, ODD, ADHD, hypotonia, and brain anomalies. 5 individuals had small deletions (≤ 1.25 Mb) involving SEMA6A and 6 individuals had rare heterozygous SEMA6A variants (4 loss‑of‑function and 2 missense). The variants were de novo in 3 families (2 missense, 1 nonsense), inherited from a parent who was unaffected or had unknown clinical status in 5 families (1 nonsense, 1 frameshift, 1 splice, 2 deletions), or had unknown inheritance in 3 families (3 deletions). SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. No functional studies performed in PMID 42336675, but Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory (PMID 22132072). Sources: Literature