Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: C17orf53EnsemblGeneIds (GRCh38): ENSG00000125319
EnsemblGeneIds (GRCh37): ENSG00000125319
C17orf53 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: HGNC approved name is HROB.Created: 2 Aug 2024, 6:35 a.m. | Last Modified: 2 Aug 2024, 6:35 a.m.
Panel Version: 0.333
Additional family reported with two sibs and compound het LoF variants.Created: 2 Aug 2024, 6:34 a.m. | Last Modified: 2 Aug 2024, 6:34 a.m.
Panel Version: 0.330
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 11, MIM# 620897
Publications
Elena Tucker (Murdoch Children's Research Institute)
PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency
PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.
Additional publication describing a homozygous LOF variant in an individual with POI and corresponding sensitivity to DNA damage elevates confidence in the gene as a cause of POI:
PMID: 36099812Created: 19 Sep 2022, 4:45 a.m. | Last Modified: 19 Sep 2022, 4:45 a.m.
Panel Version: 0.306
PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency
PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.
Sources: LiteratureCreated: 21 Feb 2022, 2:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ovarian dysgenesis 11, MIM# 620897
- Tags
- Clinvar variants
- Variants in C17orf53
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c17orf53 has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: C17orf53.
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: C17orf53 were changed from Primary ovarian insufficiency to Ovarian dysgenesis 11, MIM# 620897
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c17orf53 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Elena Tucker (Murdoch Children's Research Institute)gene: C17orf53 was added gene: C17orf53 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087 Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency Penetrance for gene: C17orf53 were set to Complete Review for gene: C17orf53 was set to AMBER