Genomics England
GMS Panels
Panels
Genes and Entities

HHAT

hedgehog acyltransferase
OMIM: 605743
PanelMode of inheritanceDetails
3 panels
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092