HHAT

hedgehog acyltransferase
OMIM: 605743, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber HHAT in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • 46,XY DSD with chondrodysplasia
  • Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Green HHAT in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Green HHAT in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Nivelon-Nivelon-Mabille syndrome, OMIM:600092
    Green HHAT in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Nivelon-Nivelon-Mabille syndrome, OMIM:600092
    Green HHAT in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nivelon-Nivelon-Mabille syndrome, OMIM:600092