Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: ERCC6
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
Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Gene: ercc6 has been classified as Amber List (Moderate Evidence).
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