1. Panels
  2. Fetal anomalies
  3. GATAD2B
Genes in panel
Prev Next

Fetal anomalies

Gene: GATAD2B

Green List (high evidence)
GATAD2B (GATA zinc finger domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Well-established neurodevelopmental disorder, typically presents in early infancy with global developmental delay and dysmorphism. Descriptions of large case series indicate that polyhydramnios and congenital macrocephaly are common; some patients have structural brain and cardiac abnormalities that might also be detected prenatally. PMID 31949314: Description of 50 patients, clinical findings included macrocephaly (60.4% at birth), hypotonia, intellectual disability, neonatal feeding issues, polyhydramnios (45%), apraxia of speech, epilepsy, and bicuspid aortic valves. Abnormal postnatal brain MRI in 60% including ventriculomegaly (35.6%) and thin corpus callosum (8.9%). PMID 39976362: Polyhydramnios 22/94 (23%), cardiac abnormalities 7/94 (7%), ventriculomegaly 15/43 (35%), thin corpus callosum 3/43 (7%), pontocerebellar hypoplasia 1/43 (2%). PMID 40371175: Frameshift variant in a patient with macrocephaly detected on ultrasound at 21 weeks, also mild polyhydramnios. Postnatal brain MRI showed ventriculomegaly.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GAND syndrome, OMIM:615074

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATAD2B gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for NONSPECIFIC SEVERE ID
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSPECIFIC SEVERE ID
  • GAND syndrome, OMIM:615074
OMIM
614998
Clinvar variants
Variants in GATAD2B
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes GAND syndrome, OMIM:615074 for gene: GATAD2B

9 Mar 2026, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GATAD2B. Mode of inheritance for gene GATAD2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to GATAD2B. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GATAD2B was added gene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID