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| Intellectual disability syndromic and non-syndromic v0.5335 | ZFHX4 | Ain Roesley Phenotypes for gene: ZFHX4 were changed from Developmental disorders; intellectual disability, dysmorphic features to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4218 | ZFHX4 | Zornitza Stark Marked gene: ZFHX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4218 | ZFHX4 | Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3174 | ZFHX4 | Zornitza Stark Tag SV/CNV tag was added to gene: ZFHX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3174 | ZFHX4 | Zornitza Stark Classified gene: ZFHX4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3174 | ZFHX4 | Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3173 | ZFHX4 |
Zornitza Stark gene: ZFHX4 was added gene: ZFHX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFHX4 were set to 33057194; 24038936; 21802062 Phenotypes for gene: ZFHX4 were set to Developmental disorders; intellectual disability, dysmorphic features Review for gene: ZFHX4 was set to GREEN Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). PMID: 24038936 - a single case with developmental delay, macrocephaly, ventriculomegaly, hypermetropia, recurrent infections, dysmorphism and a de novo deletion of the last 7 exons of the gene. PMID:21802062 (2011) report 8 individuals with ID and overlapping deletions of 8q21.11 (0.66-13.55 Mb in size); the smallest region of overlap encompasses 3 genes including ZFHX4. Sources: Literature |
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