SEMA3A

semaphorin 3A
OMIM: 603961, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red SEMA3A in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Alder Hey - Erasmus MC Phenotypes susceptibility to Hirschsprung disease
Green SEMA3A in Hypogonadotropic hypogonadism Level 3: Hypothalamic and pituitary disorders Level 2: Endocrine disorders Version 1.47	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Other Expert list OMIM Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia, MONDO:0013961 Tags monogenic-polygenic
Amber SEMA3A in Hypogonadotropic hypogonadism (GMS) Level 2: Endocrinology Version 5.10 Latest signed off version: v5.3 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897 hypogonadotropic hypogonadism 16 with or without anosmia, MONDO:0013961 Tags Q4_26_promote_green watchlist_moi
Amber SEMA3A in Skeletal dysplasia Level 2: Musculoskeletal Version 10.35 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes skeletal dysplasia, MONDO:0018230 Tags Q4_26_promote_green
Green SEMA3A in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897 congenital heart disease skeletal anomalies
Green SEMA3A in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEMA3A-related skeletal dysplasia