Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: ZBTB7A

Green List (high evidence)

ZBTB7A (zinc finger and BTB domain containing 7A)
EnsemblGeneIds (GRCh38): ENSG00000178951
EnsemblGeneIds (GRCh37): ENSG00000178951
OMIM: 605878, Gene2Phenotype
ZBTB7A is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.
Created: 19 May 2022, 11:58 a.m. | Last Modified: 19 May 2022, 11:58 a.m.
Panel Version: 1.117

Julia Baptista (Faculty of Health, University of Plymouth)

Green List (high evidence)

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
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769
OMIM
605878
Clinvar variants
Variants in ZBTB7A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZBTB7A were changed from intellectual disability; macrocephaly; overgrowth to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769

19 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ZBTB7A were set to 34515416

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: zbtb7a has been classified as Green List (High Evidence).

9 May 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Julia Baptista (Faculty of Health, University of Plymouth)

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