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| Mitochondrial disorders v3.6 | KIAA0391 | Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: KIAA0391. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.6 | KIAA0391 | Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.5 | KIAA0391 |
Achchuthan Shanmugasundram 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) |
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| Mitochondrial disorders v2.64 | KIAA0391 | Sarah Leigh commented on gene: KIAA0391: PRORP is the HGNC approved gene name for KIAA0391 https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.64 | KIAA0391 | Sarah Leigh Tag Q4_21_rating tag was added to gene: KIAA0391. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.64 | KIAA0391 | Sarah Leigh Classified gene: KIAA0391 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.64 | KIAA0391 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.64 | KIAA0391 | Sarah Leigh Gene: kiaa0391 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.63 | KIAA0391 | Sarah Leigh reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome clinical spectrum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.63 | KIAA0391 | Sarah Leigh Tag new-gene-name tag was added to gene: KIAA0391. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.63 | KIAA0391 |
Zornitza Stark 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 Added comment: 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: Literature |
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