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| Severe microcephaly v2.210 | TCF4 | Eleanor Williams Classified gene: TCF4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.210 | TCF4 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to red. After consultation with the Genomics England Clinical Team it was decided that patients with Pitt-Hopkins syndrome are more likely to be following a route for explanation of global developmental delay/intellectual disability than severe microcephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.210 | TCF4 | Eleanor Williams Gene: tcf4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.187 | TCF4 | Eleanor Williams Phenotypes for gene: TCF4 were changed from Pitt-Hopkins syndrome, MIM# 610954 to Pitt-Hopkins syndrome, OMIM:610954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.186 | TCF4 | Eleanor Williams Publications for gene: TCF4 were set to 18728071; 22934316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.185 | TCF4 | Eleanor Williams reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 18728071, 21671391, 29318938; Phenotypes: Pitt-Hopkins syndrome OMIM:610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | TCF4 |
Zornitza Stark gene: TCF4 was added gene: TCF4 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF4 were set to 18728071; 22934316 Phenotypes for gene: TCF4 were set to Pitt-Hopkins syndrome, MIM# 610954 Review for gene: TCF4 was set to GREEN gene: TCF4 was marked as current diagnostic Added comment: Well established gene-disease association. Microcephaly reported in around 60%. Sources: Expert list |
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