Activity
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| Ataxia and cerebellar anomalies - childhood onset v9.35 | POLR3K | Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: POLR3K. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.35 | POLR3K | Achchuthan Shanmugasundram Classified gene: POLR3K as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.35 | POLR3K | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases (counting the two cases with potential founder variant as one) reported with three different variants in POLR3K (two cases homozygous for the suggested founder missense variant and one case compound heterozygous for a different missense variant and a ~17.8 kb deletion). All patients had cerebellar atrophy and two of them had ataxia. There is also functional evidence available in support of the association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.35 | POLR3K | Achchuthan Shanmugasundram Gene: polr3k has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.34 | POLR3K | Achchuthan Shanmugasundram Tag watchlist was removed from gene: POLR3K. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.34 | POLR3K | Achchuthan Shanmugasundram Publications for gene: POLR3K were set to 30584594; 33659930 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.33 | POLR3K | Achchuthan Shanmugasundram Phenotypes for gene: POLR3K were changed from Leukodystrophy, hypomyelinating, 21, OMIM:619310 to Leukodystrophy, hypomyelinating, 21, OMIM:619310; leukodystrophy, hypomyelinating, 21, MONDO:0030263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v9.32 | POLR3K | Achchuthan Shanmugasundram reviewed gene: POLR3K: Rating: GREEN; Mode of pathogenicity: None; Publications: 30584594, 40225923; Phenotypes: Leukodystrophy, hypomyelinating, 21, OMIM:619310, leukodystrophy, hypomyelinating, 21, MONDO:0030263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.180 | POLR3K | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.98 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - childhood onset v2.180 | POLR3K |
Ivone Leong gene: POLR3K was added gene: POLR3K was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature,Expert Review Amber watchlist, founder-effect tags were added to gene: POLR3K. Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310 |
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