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| DDG2P v3.79 | TAF4 | Achchuthan Shanmugasundram Tag curated_removed was removed from gene: TAF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF4 | Achchuthan Shanmugasundram reviewed gene: TAF4: Rating: RED; Mode of pathogenicity: ; Publications: 35904126; Phenotypes: TAF4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAF4 |
Achchuthan Shanmugasundram Source DD-Gene2Phenotype was added to TAF4. Source Expert Review Red was added to TAF4. Mode of inheritance for gene TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes TAF4-related neurodevelopmental disorder for gene: TAF4 Publications for gene: TAF4 were updated from 33875846 to 35904126; 33875846 Rating Changed from No List (delete) to Red List (low evidence) |
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| DDG2P v2.78 | TAF4 | Eleanor Williams commented on gene: TAF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | TAF4 | Eleanor Williams Tag curated_removed tag was added to gene: TAF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | TAF4 | Eleanor Williams Classified gene: TAF4 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | TAF4 | Eleanor Williams Gene: taf4 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | TAF4 |
Dmitrijs Rots gene: TAF4 was added gene: TAF4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF4 were set to 33875846 Phenotypes for gene: TAF4 were set to Developmental delay Penetrance for gene: TAF4 were set to unknown Review for gene: TAF4 was set to GREEN Added comment: From the literature: "A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans." Sources: Literature |
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