Bone Marrow Failure

Gene: SLC37A4

Green List (high evidence)

7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.

Note that although most/all patients had abnormal clotting factors, only one was noted to have a history of bruising/bleeding.
Sources: Literature

Created: 7 Jun 2021, 5:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency

Publications

• 33964207

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Neutropaenia is a significant feature of this GSD, sometimes requiring treatment with colony stimulating factor.

Created: 15 Sep 2020, 3:44 a.m. | Last Modified: 15 Sep 2020, 3:44 a.m.

Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ib, MIM# 232220

Publications

• 31788408
• 31536830