PanelApp (staging)
  1. Genes and Genomic Entities
  2. DOHH

DOHH

deoxyhypusine hydroxylase
OMIM: 611262, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DOHH in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066

Green DOHH in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066

Green DOHH in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066

Green DOHH in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, DOHH-related (MONDO#0700092)

    Green DOHH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066

    Green DOHH in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066

    Green DOHH in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066