Genomics England
GMS Panels
Panels
Genes and Entities

HHAT

hedgehog acyltransferase
OMIM: 605743
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092