Pigmentary skin disordersGene: SMARCAL1
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
Created: 21 Oct 2021, 3:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Tag Q4_21_NHS_review tag was added to gene: SMARCAL1.
Tag Q4_21_rating tag was added to gene: SMARCAL1.
Gene: smarcal1 has been classified as Amber List (Moderate Evidence).
Publications for gene: SMARCAL1 were set to 11799392
Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900
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