Haem degradation and bilirubin metabolism defects
Gene: GATA1EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
No new evidence, reviewed information from GEL PanelApp agreed with comments:
"PMID: 25251786 and 17148589 report a total of three unrelated male probands with clinical and haematological features of congenital erythropoietic porphyria, all with the same missense variant (R216W) in GATA1. However, in PMID: 25251786 one of the probands was also heterozygous for a pathogenic variant in UROS (a cause of AR congenital erythropoietic porphyria) and the other had a paternally inherited missense variant in SEC23B (a cause of congenital dyserythropoietic anemia type II)."Created: 25 Jun 2020, 12:41 a.m. | Last Modified: 25 Jun 2020, 12:41 a.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital Erythropoietic Porphyria
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
- Congenital erythropoietic porphyria
- OMIM
- 305371
- Clinvar variants
- Variants in GATA1
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GATA1 was added gene: GATA1 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 25251786; 17148589 Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria