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Non-acute porphyrias

Gene: GATA1

Amber List (moderate evidence)

GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels

2 reviews

Anna de Burca (Genomics England Curator)

I don't know

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: 13 Jan 2019, 11:22 p.m.

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

Phenotypes
Congenital erythropoietic porphyria

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoted from green to amber as there are only 3 cases associated with Non-Fanconi anaemia; however, variants in this gene will be reported with caution for non-acute porphyria. This is agreed upon by the gastrohepatology specialist group WebEx on 14th Jan 2019. Have put "watch list" tag.
Created: 14 Jan 2019, 11:09 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 3:53 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367
  • thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Tags
watchlist
OMIM
305371
Clinvar variants
Variants in GATA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367; thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308

24 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria

14 Jan 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GATA1 were set to

14 Jan 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

14 Jan 2019, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: GATA1.

14 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to GATA1. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: GATA1 was added gene: GATA1 was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: GATA1 was set to