1. Panels
  2. Macrocephaly_Megalencephaly
  3. ZBTB7A
STRs in panel
Prev Next
Regions in panel
Prev Next

Macrocephaly_Megalencephaly

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 34515416. Monoallelic ZBTB7A variants identified in 12 individuals from 11 families, with macrocephaly (11/12), some degree of ID (12/12), autistic features (7/12) and hypertrophy of pharyngeal lymphoid tissue (12/12). Variants included LoF variants and missense, 8 variants were de novo.

PMID: 31645653. De novo ZBTB7A missense identified in a boy with macrocephaly, intellectual disability, and sleep apnea.
Sources: Expert list
Created: 3 Mar 2022, 12:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)

Publications

Created: 3 Mar 2022, 12:54 a.m.

Panel version: 0.100

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: ZBTB7A was added gene: ZBTB7A was added to Macrocephaly_Megalencephaly. Sources: Expert list Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB7A were set to 34515416; 31645653 Phenotypes for gene: ZBTB7A were set to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Review for gene: ZBTB7A was set to GREEN