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 4.21
Latest signed off version: v4.20 (6 May 2026)

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 9.3
Latest signed off version: v9.0 (6 May 2026)

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 9.13
Latest signed off version: v9.0 (6 May 2026)

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 7.11
    Latest signed off version: v7.0 (6 May 2026)

    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 5.6
    Latest signed off version: v5.0 (6 May 2026)

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