Genomics England
GMS Panels
Panels
Genes and Entities

BHLHA9

basic helix-loop-helix family member a9
OMIM: 615416
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPLIT HAND AND FOOT MALFORMATION 220600, MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
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
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432, Polydactyly
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432