Cytopenia - NOT Fanconi anaemia
Gene: SLC37A4
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Glycogen storage disorders - other syndromic features (eg hypoglycaemia and splenomegaly) unlikely to present as neutropenia; North West GLH: Syndromic features, neutropenia, not isolated Thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH - other discipline (IEM-GSD) so should be Red on this panelCreated: 22 Jul 2019, 2:54 p.m. | Last Modified: 22 Jul 2019, 2:54 p.m.
Panel Version: 0.115
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC37A4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 232220 Glycogen storage disease Ib; PMID(s): 9428641; 9675154Created: 8 Feb 2019, 1:43 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
232220 Glycogen storage disease Ib
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240
Source Expert review Red was added to SLC37A4.
Source Wessex and West Midlands GLH was added to SLC37A4. Source Yorkshire and North East GLH was added to SLC37A4. Source North West GLH was added to SLC37A4.
Phenotypes for gene: SLC37A4 were changed from 232220 Glycogen storage disease Ib to Glycogen storage disease Ib, 232220
Gene: slc37a4 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to SLC37A4. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene SLC37A4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4
Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4 Publications for gene SLC37A4 were changed from to 9428641; 9675154
Source NHS GMS was added to SLC37A4.
gene: SLC37A4 was added gene: SLC37A4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: SLC37A4 was set to