Activity
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11 actions
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| Deafness and congenital structural abnormalities v1.34 | KIAA0391 | Achchuthan Shanmugasundram Classified gene: KIAA0391 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.34 | KIAA0391 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are at least four unrelated families reported with sensorineural hearing loss, this gene has been promoted to green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.34 | KIAA0391 | Achchuthan Shanmugasundram Gene: kiaa0391 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.33 | KIAA0391 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: KIAA0391. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.33 | KIAA0391 | Achchuthan Shanmugasundram commented on gene: KIAA0391: The 'new-gene-name' tag has been added as the official gene symbol for KIAA0391 is PRORP. It is also known as MRPP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.33 | KIAA0391 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 10 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.33 | KIAA0391 | Achchuthan Shanmugasundram Phenotypes for gene: KIAA0391 were changed from Combined oxidative phosphorylation deficiency 54, OMIM:619737 to Combined oxidative phosphorylation deficiency 54, OMIM:619737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.32 | KIAA0391 | Achchuthan Shanmugasundram Phenotypes for gene: KIAA0391 were changed from Sensorineural hearing loss; primary ovarian insufficiency; leukodystrophy to Combined oxidative phosphorylation deficiency 54, OMIM:619737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.31 | KIAA0391 | Achchuthan Shanmugasundram Publications for gene: KIAA0391 were set to PMID:34715011; 37558808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.30 | KIAA0391 | Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: 34715011, 37558808; Phenotypes: Combined oxidative phosphorylation deficiency 54, OMIM:619737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.27 | KIAA0391 |
Bill Newman gene: KIAA0391 was added gene: KIAA0391 was added to Deafness and congenital structural abnormalities. Sources: Literature Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0391 were set to PMID:34715011; 37558808 Phenotypes for gene: KIAA0391 were set to Sensorineural hearing loss; primary ovarian insufficiency; leukodystrophy Penetrance for gene: KIAA0391 were set to Complete Review for gene: KIAA0391 was set to GREEN Added comment: Note this gene should be called PRORP (also known as MRPP3) Biallelic hylomorphic missense variants in the metallonuclease domain associated with this phenotype Sources: Literature |
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