Pigmentary skin disorders

Gene: SMARCAL1

Amber List (moderate evidence)

SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1)
EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 17 panels

2 reviews

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)

Green List (high evidence)

Sources: Other
Created: 21 Oct 2021, 3:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SCHIMKE IMMUNOOSSEOUS DYSPLASIA

Publications

History Filter Activity

30 Nov 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: SMARCAL1.

30 Nov 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: SMARCAL1.

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: smarcal1 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SMARCAL1 were set to 11799392

30 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900

21 Oct 2021, Gel status: 0

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