Non-acute porphyrias

Gene: GATA1

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

• PMID: 25251786
• 17148589

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.