Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PEX6
Two published cases of syndromic POI associated with biallelic variants in this gene:
PMID: 31555682 (retinitis pigmentosa, bilateral sensorineural hearing loss, hypotonia, developmental delay, ovarian and enamel dysplasia - "ovarian dysgenesis" likely POI given investigation for Turner syndrome
PMID: 32399598 (Perrault syndrome as initial presentation, followed by neuropathy, ataxia, neurological decline, retinopathy)Created: 22 Feb 2022, 2:48 a.m. | Last Modified: 22 Feb 2022, 2:48 a.m.
Panel Version: 0.287
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
syndromic premature ovarian insufficiency; peroxisomal biogenesis disorders
Publications
Well established gene-disease association for peroxisomal disorders, including milder end of the spectrum (Heimler syndrome). Single case report of Perrault syndrome as presenting phenotype.
Sources: LiteratureCreated: 7 Dec 2020, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome
Publications
PMID: 32399598 (phenotypic expansion) - One patient with compound heterozygous missense variants in PEX6. The initial syndromic presentation of premature ovarian insufficiency and associated hearing loss led to the clinical diagnosis of Perrault syndrome. For the first time, we show that pathogenic variants in PEX6 can present clinically as Perrault syndrome.Created: 7 Dec 2020, 5:23 a.m. | Last Modified: 7 Dec 2020, 5:23 a.m.
Panel Version: 0.5567
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome
Publications
PBD - 4A: more severe disease w/ PTCs, null or minimal activity
HS: less severe, 1 allele w/ residual activity
PBD – 4B: Recurring missense (p.R860W) causes AD disease. Disease depends on if a common UTR variant controlling allelic imbalance is het.Created: 14 Feb 2020, 4:06 a.m. | Last Modified: 14 Feb 2020, 4:06 a.m.
Panel Version: 0.1357
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4B; Heimler syndrome 2; Peroxisome biogenesis disorder 4A (Zellweger)
Publications
Publications for gene: PEX6 were set to 32399598
Gene: pex6 has been classified as Amber List (Moderate Evidence).
Gene: pex6 has been classified as Red List (Low Evidence).
gene: PEX6 was added gene: PEX6 was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 32399598 Phenotypes for gene: PEX6 were set to Perrault syndrome Review for gene: PEX6 was set to RED