PLXNB2

plexin B2
OMIM: 604293, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green PLXNB2 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.30 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Literature Phenotypes amelogenesis imperfecta, MONDO:0019507 sensorineural hearing loss disorder, MONDO:0020678 intellectual disability, MONDO:0001071 Tags gene-checked
Green PLXNB2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability
Green PLXNB2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes amelogenesis imperfecta, MONDO:0019507 sensorineural hearing loss disorder, MONDO:0020678 intellectual disability, MONDO:0001071 Tags gene-checked
Green PLXNB2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes amelogenesis imperfecta, MONDO:0019507 sensorineural hearing loss disorder, MONDO:0020678 intellectual disability, MONDO:0001071 Tags gene-checked