Pigmentary skin disorders
Gene: SMARCAL1EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There are >3 unrelated cases and PMID:20301550 reports that ~70% of patients have hyperpigmented macules. Therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 30 Nov 2021, 10:55 a.m. | Last Modified: 30 Nov 2021, 10:55 a.m.
Panel Version: 1.32
Tom Cullup (Great Ormond Street Hospital)
Sources: OtherCreated: 21 Oct 2021, 3:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Schimke immunoosseous dysplasia, OMIM:242900
- OMIM
- 606622
- Clinvar variants
- Variants in SMARCAL1
- Penetrance
- Complete
- 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
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: SMARCAL1. Tag Q4_21_NHS_review was removed from gene: SMARCAL1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SMARCAL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_NHS_review tag was added to gene: SMARCAL1.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: SMARCAL1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: smarcal1 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SMARCAL1 were set to 11799392
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)gene: SMARCAL1 was added gene: SMARCAL1 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 11799392 Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA Penetrance for gene: SMARCAL1 were set to Complete Review for gene: SMARCAL1 was set to GREEN