PanelApp
  1. Genes and Genomic Entities
  2. HSD17B4

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4
OMIM: 601860, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green HSD17B4 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • D-bifunctional protein deficiency - MIM#261515

    Green HSD17B4 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Perrault syndrome 1, MIM# 233400

    Green HSD17B4 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • D-bifunctional protein deficiency, AR (MIM#261515)
    • Perrault syndrome 1, AR (MIM#233400)

    Green HSD17B4 in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.56

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • D-bifunctional protein deficiency, AR (MIM#261515)
    • Perrault syndrome 1, AR (MIM#233400)

    Green HSD17B4 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • D-bifunctional protein deficiency, AR (MIM#261515)
    • Perrault syndrome 1, AR (MIM#233400)

    Green HSD17B4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HSD17B4 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HSD17B4 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Perrault syndrome 1, MIM# 233400

    Green HSD17B4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • D-bifunctional protein deficiency, AR (MIM#261515)
    • Perrault syndrome 1, AR (MIM#233400)

    Green HSD17B4 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • D-bifunctional protein deficiency

    Green HSD17B4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • D-bifunctional protein deficiency, 261515 (3)

    Green HSD17B4 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.388

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert List
    • Expert Review Green
    Phenotypes
    • Perrault syndrome 1, #MIM 233400

    Green HSD17B4 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.82

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Perrault syndrome 1, MIM# 233400

    Green HSD17B4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • D-bifunctional protein deficiency

    Green HSD17B4 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • D-bifunctional protein deficiency, AR (MIM#261515)

    Green HSD17B4 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • D-bifunctional protein deficiency, 261515 (3)

    Red HSD17B4 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • D-bifunctional protein deficiency, AR (MIM#261515)
    • Perrault syndrome 1, AR (MIM#233400)

    Green HSD17B4 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • D-bifunctional protein deficiency, MIM#261515

    Green HSD17B4 in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Perrault syndrome 1, #MIM 233400