1. Panels
  2. Skeletal Dysplasia_Fetal
  3. SMARCAL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal Dysplasia_Fetal

Gene: SMARCAL1

Green List (high 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 14 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

IUGR with disproportionately short trunk and neck described.
Sources: Expert list, Literature
Created: 27 Sep 2022, 3:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immunoosseous dysplasia (MIM#242900)

Publications

Created: 27 Sep 2022, 3:40 a.m.

Panel version: 0.121

History Filter Activity

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcal1 has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcal1 has been classified as Green List (High Evidence).

27 Sep 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: SMARCAL1 was added gene: SMARCAL1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 15523612; 20301550; 20301550; 17089404; 20036229 Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia (MIM#242900) Review for gene: SMARCAL1 was set to GREEN