Cytopenia - NOT Fanconi anaemia
Gene: SMARCAL1EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
Frances Smith (King's College Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert review Red
- North West GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Expert Review Red
- NHS GMS
- London South GLH
- Phenotypes
-
- Schimke immunoosseous dysplasia, OMIM:242900
- OMIM
- 606622
- Clinvar variants
- Variants in SMARCAL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- DDG2P
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Proteinuric renal disease
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Cerebral vascular malformations
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to SMARCAL1.
Added New Source, Added New Source, Added New Source
Louise Daugherty (Genomics England Curator)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.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SMARCAL1 were changed from 242900 Schimke immunoosseous dysplasia to Schimke immunoosseous dysplasia, 242900
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: smarcal1 has been classified as Red List (Low Evidence).
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SMARCAL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1 Publications for gene SMARCAL1 were changed from to 17089404
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SMARCAL1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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