Cytopenia - NOT Fanconi anaemia
Gene: SMARCAL1
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: Multisystem disorder, skeletal defects seem to be consistently present, has not been associated with a cytopenia as presenting symptom; North West GLH:Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH:no comment submitted; London South GLH: no comment submittedCreated: 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 as syndromicCreated: 22 Jul 2019, 2:55 p.m. | Last Modified: 22 Jul 2019, 2:55 p.m.
Panel Version: 0.116
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: SMARCAL1; 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: 242900 Schimke immunoosseous dysplasia; PMID(s): 17089404Created: 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
242900 Schimke immunoosseous dysplasia
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Source Expert review Red was added to SMARCAL1.
Source Wessex and West Midlands GLH was added to SMARCAL1. Source Yorkshire and North East GLH was added to SMARCAL1. Source North West GLH was added to SMARCAL1.
Phenotypes for gene: SMARCAL1 were changed from 242900 Schimke immunoosseous dysplasia to Schimke immunoosseous dysplasia, 242900
Gene: smarcal1 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to SMARCAL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1
Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1 Publications for gene SMARCAL1 were changed from to 17089404
Source NHS GMS was added to SMARCAL1.
gene: SMARCAL1 was added gene: SMARCAL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: SMARCAL1 was set to