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Fetal anomalies

Gene: GATAD2B

Red List (low evidence)

GATAD2B (GATA zinc finger domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 5 panels

1 review

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • NONSPECIFIC SEVERE ID
OMIM
614998
Clinvar variants
Variants in GATAD2B
Penetrance
None
Panels with this gene

History Filter Activity

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