Activity
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| Monogenic hearing loss v5.31 | KIAA0391 | Achchuthan Shanmugasundram Classified gene: KIAA0391 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.31 | KIAA0391 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are at least four unrelated families reported with sensorineural hearing loss, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.31 | KIAA0391 | Achchuthan Shanmugasundram Gene: kiaa0391 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.30 | KIAA0391 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: KIAA0391. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.30 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.30 | KIAA0391 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 10 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.30 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.29 | KIAA0391 |
Achchuthan Shanmugasundram gene: KIAA0391 was added gene: KIAA0391 was added to Monogenic hearing loss. Sources: Literature new-gene-name tags were added to gene: KIAA0391. Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0391 were set to 34715011; 37558808 Phenotypes for gene: KIAA0391 were set to Combined oxidative phosphorylation deficiency 54, OMIM:619737 Review for gene: KIAA0391 was set to GREEN Added comment: PMID:34715011 (2021) reported four unrelated families with multisystem disease and identified with biallelic variants (either homozygous or compound heterozygous) in PRORP (KIAA0391) gene. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss (SNHL), primary ovarian insufficiency, developmental delay, and brain white matter changes. SNHL was reported in three of the four families. There is also functional evidence available from fibroblasts from affected individuals in two families. PMID:37558808 (2023) reported three additional unrelated patients with homozygous missense PRORP variants and with pleiotropic phenotypes consistent with the previously reported cases from PMID:34715011. SNHL was reported in one these cases, while another proband did not pass neonatal hearing screening (althoughjt formal hearing test was not performed and patient died at 19 months of age). Sources: Literature |
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