Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Strong segregation in one family and supporting functional assays. POI has not been mentioned in carriers for Cockayne syndrome. More evidence is required to determine whether dominant POI associated variants in this gene are specific to the exon expressed in the alternate transcript.Created: 26 Jun 2020, 4:52 a.m. | Last Modified: 26 Jun 2020, 4:52 a.m.
Panel Version: 0.15
A missense variant identified in the PGBD3 inserted intron 5 transcript NM_001277058.1 (Gly746Asp), segregated in a Han Chinese family in 4 women over 2 generations with secondary amenorrhea. Another missense in NM_001277058.1 (Val1056Ile) and a p.Glu215Ter in the canonical transcript (NM_000124.4) were identified in 2 sporadic POI cases. In vitro functional assays were supportive for a loss of function. The stopgain has been reported in a case with Cockayne syndrome with no mention of POI (ClinVar).Created: 26 Jun 2020, 4:46 a.m. | Last Modified: 26 Jun 2020, 4:46 a.m.
Panel Version: 0.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure 11 MIM#616946
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Premature ovarian failure 11 616946
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- Blepharophimosis
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Mendeliome
- Photosensitivity Syndromes
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC6 was added gene: ERCC6 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ERCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ERCC6 were set to Premature ovarian failure 11 616946