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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.119 | ZBTB7A | Sarah Leigh Phenotypes for gene: ZBTB7A were changed from intellectual disability; macrocephaly; overgrowth to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.118 | ZBTB7A | Sarah Leigh Publications for gene: ZBTB7A were set to 34515416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.117 | ZBTB7A | Sarah Leigh Classified gene: ZBTB7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.117 | ZBTB7A | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least 11 variants have been reported in 10 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.117 | ZBTB7A | Sarah Leigh Gene: zbtb7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 | ZBTB7A |
Julia Baptista gene: ZBTB7A was added gene: ZBTB7A was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Literature Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB7A were set to 34515416 Phenotypes for gene: ZBTB7A were set to intellectual disability; macrocephaly; overgrowth Review for gene: ZBTB7A was set to GREEN gene: ZBTB7A was marked as current diagnostic Added comment: Syndromic mild ID reported in 12 individuals from 10 families. Additional clinical features included macrocephaly, and overgrowth of adenoid tissue. De novo variants confirmed in eight families. Frameshift, nonsense and missense variants identified throughout the gene. Sources: Literature |
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