Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: ZBTB7AComment 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.Created: 19 May 2022, 11:58 a.m. | Last Modified: 19 May 2022, 11:58 a.m.
Panel Version: 1.117
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: LiteratureCreated: 9 May 2022, 2:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; macrocephaly; overgrowth
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ZBTB7A were changed from intellectual disability; macrocephaly; overgrowth to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769
Publications for gene: ZBTB7A were set to 34515416
Gene: zbtb7a has been classified as Green List (High Evidence).
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