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Photosensitivity Syndromes

Gene: GATA1

Amber List (moderate evidence)
GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 15 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis

PMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis
Sources: Expert list
Created: 22 Jul 2020, 3:21 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Erythropoietic porphyria

Publications

Created: 22 Jul 2020, 3:21 a.m.

Panel version: 0.9

History Filter Activity

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata1 has been classified as Amber List (Moderate Evidence).

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata1 has been classified as Amber List (Moderate Evidence).

22 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: GATA1 was added gene: GATA1 was added to Photosensitivity Syndromes. Sources: Expert list 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 PMID: 17148589; 25251786 Phenotypes for gene: GATA1 were set to Erythropoietic porphyria Review for gene: GATA1 was set to AMBER