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| Severe microcephaly v3.2 | TPR |
Achchuthan Shanmugasundram gene: TPR was added gene: TPR was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPR were set to 34494102 Phenotypes for gene: TPR were set to Microcephaly, MONDO:0001149 Review for gene: TPR was set to RED Added comment: Comment on classification of this gene: This gene should be added with a RED rating as the association of TPR to microcephaly is based on biallelic variants identified from a report of two siblings. Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. The occipitofrontal circumference (OFC) was at 3rd centile for individual 1 and at 10th centile for individual 2 and dropped to below 1st centile at eight months and five months respectively. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution. This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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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 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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