1. Genes and Genomic Entities
  2. BHLHA9

BHLHA9

basic helix-loop-helix family member a9
OMIM: 615416, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green BHLHA9 in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
    • Polydactyly
    Green BHLHA9 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
    Green BHLHA9 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ?Camptosynpolydactyly, complex, OMIM:607539
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432
    • SPLIT HAND AND FOOT MALFORMATION
    • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
    Green BHLHA9 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPLIT HAND AND FOOT MALFORMATION 220600
    • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
    Red BHLHA9 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
    Green BHLHA9 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432