Radial Ray Abnormalities
Gene: GATA1
GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cannot find evidence for association with radial ray abnormalities.Created: 23 Jul 2020, 11:24 p.m. | Last Modified: 23 Jul 2020, 11:24 p.m.
Panel Version: 0.57
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 305371
- Clinvar variants
- Variants in GATA1
- Penetrance
- None
- Panels with this gene
-
- Red cell disorders
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Hydrops fetalis
- Haem degradation and bilirubin metabolism defects
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Photosensitivity Syndromes
- IBMDx study
- Diamond Blackfan anaemia
History Filter Activity
23 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata1 has been classified as Red List (Low Evidence).
23 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata1 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GATA1 was added gene: GATA1 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATA1 was set to Unknown