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 4.23
Latest signed off version: v4.22 (12 Aug 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 9.26
Latest signed off version: v9.13 (12 Aug 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 10.5
Latest signed off version: v10.0 (12 Aug 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 8.5
    Latest signed off version: v8.0 (12 Aug 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 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

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