Mitochondrial disorders
Gene: KIAA0391
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
PRORP is the HGNC approved gene name for KIAA0391 https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19958Created: 9 Dec 2021, 5:26 p.m. | Last Modified: 9 Dec 2021, 5:26 p.m.
Panel Version: 2.64
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 9 Dec 2021, 5:24 p.m. | Last Modified: 9 Dec 2021, 5:24 p.m.
Panel Version: 2.64
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID 34715011 reports six variants in four unrelated families with pleiotropic multisystem presentations. The authors of this report that the PRORP should be
considered another as another gene be associated with the Perrault syndrome clinical spectrum.Created: 9 Dec 2021, 5:23 p.m. | Last Modified: 9 Dec 2021, 5:23 p.m.
Panel Version: 2.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome clinical spectrum
Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP, HGNC approved name is KIAA0391. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.
-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.
Sources: LiteratureCreated: 4 Dec 2021, 7:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hearing loss, intellectual disability
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: KIAA0391.
Source NHS GMS was added to KIAA0391. Source Expert Review Green was added to KIAA0391. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: KIAA0391.
Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: KIAA0391.
gene: KIAA0391 was added gene: KIAA0391 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0391 were set to 34715011 Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability Review for gene: KIAA0391 was set to GREEN gene: KIAA0391 was marked as current diagnostic