Non-acute porphyrias
Gene: GATA1
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
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 givenCreated: 7 Jan 2019, 3:53 p.m.
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
Gene: gata1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Publications for gene: GATA1 were set to
Mode of inheritance for gene: GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Tag watchlist tag was added to gene: GATA1.
Gene: gata1 has been classified as Amber List (Moderate Evidence).
Source Expert Review Green was added to GATA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GATA1 was added gene: GATA1 was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: GATA1 was set to