Polymicrogyria and Schizencephaly
Gene: HSD17B4EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 18 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.
Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)
Sources: LiteratureCreated: 24 Jan 2022, 3:19 a.m. | Last Modified: 24 Jan 2022, 3:41 a.m.
Panel Version: 0.168
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- D-bifunctional protein deficiency - MIM#261515
- OMIM
- 601860
- Clinvar variants
- Variants in HSD17B4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Deafness_Isolated
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hsd17b4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 to D-bifunctional protein deficiency - MIM#261515
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hsd17b4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: HSD17B4 was added gene: HSD17B4 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 27790638; 32904102 Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 Review for gene: HSD17B4 was set to GREEN