Differences of Sex Development
Gene: POLR3BEnsemblGeneIds (GRCh38): ENSG00000013503
EnsemblGeneIds (GRCh37): ENSG00000013503
OMIM: 614366, Gene2Phenotype
POLR3B is in 15 panels
1 review
Chirag Patel (Genetic Health Queensland)
Hypomyelinating leukodystrophy-8 (HLD8) is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability.
Multiples families reported with compound heterozygous mutations in POL3RB gene.
Wolf et al. (2014) performed a cross-sectional observational study of 105 patients with 4H syndrome, including 43 with mutations in the POLR3A gene and 62 with mutations in the POLR3B gene. Delayed puberty/HH, in those old enough to assess, occurred in 81% of patients with POLR3A mutations and in 69% of those with POLR3B mutations.
Sources: LiteratureCreated: 5 Dec 2024, 4:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; OMIM #614381
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- OMIM #614381
- OMIM
- 614366
- Clinvar variants
- Variants in POLR3B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Mendeliome
- Prepair 500+
- Callosome
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polr3b has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POLR3B were set to PubMed: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: polr3b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: POLR3B was added gene: POLR3B was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3B were set to PubMed: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961 Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; OMIM #614381 Review for gene: POLR3B was set to GREEN