PanelApp (test)
  1. Genes and Genomic Entities
  2. BHLHA9

BHLHA9

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green BHLHA9 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432

Green BHLHA9 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.276

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432

    Green BHLHA9 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432

    Green BHLHA9 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432