Activity
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7 actions
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| Severe microcephaly v2.193 | TPRKB | Eleanor Williams Phenotypes for gene: TPRKB were changed from Galloway-Mowat syndrome 5, MIM# 617731 to Galloway-Mowat syndrome 5, OMIM:617731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.192 | TPRKB | Eleanor Williams Publications for gene: TPRKB were set to 28805828; 30053862 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.191 | TPRKB | Eleanor Williams Classified gene: TPRKB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.191 | TPRKB | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to red. 2 unrelated cases reported but the degree of microcephaly is not reported, so can't confirm it is in the severe range. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.191 | TPRKB | Eleanor Williams Gene: tprkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.190 | TPRKB | Eleanor Williams reviewed gene: TPRKB: Rating: RED; Mode of pathogenicity: None; Publications: 28805828; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | TPRKB |
Zornitza Stark gene: TPRKB was added gene: TPRKB was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 28805828; 30053862 Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731 Review for gene: TPRKB was set to GREEN gene: TPRKB was marked as current diagnostic Added comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly. Sources: Expert list |
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