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Skeletal dysplasia

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 16 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

spondylo-epi-(meta)-physeal dysplasias gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immunoosseous dysplasia 242900

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMARCAL1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:09 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immunoosseous dysplasia 242900

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Schimke immunoosseous dysplasia 242900 for gene: SMARCAL1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SMARCAL1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SMARCAL1 were set to Schimke immunoosseous dysplasia 242900

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SMARCAL1 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SMARCAL1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SMARCAL1 was created by sleigh