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Limb disorders

Gene: SLC25A21

Red List (low evidence)

SLC25A21 (solute carrier family 25 member 21)
EnsemblGeneIds (GRCh38): ENSG00000183032
EnsemblGeneIds (GRCh37): ENSG00000183032
OMIM: 607571, Gene2Phenotype
SLC25A21 is in 3 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Agree with Red rating, need more evidence to support gene-disease association to familial synpolydactyly of the hands and feet, a phenotype relvaent to this panel.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial synpolydactyly of the hands and feet

Publications

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with red rating. Single paper found deletion segregating with synpolydactyly in a family; gene function unlikely to explain phenotype but PAX9 regulatory domain in mouse SLC25A21.
Created: 9 Sep 2018, 7:54 p.m.

Rachel Jones (GSTT)

Red List (low evidence)

PMID: 25759628 Single publication of an 81kb deletion within the SLC25A21 gene which apparently segregated with synpolydactyly within a family, consistent with AD inheritance.

Oxodicarboxylate transporter protein; no obvious functional relationship with gene product and phenotype. However, PAX9 regulatory elements have been identified in mouse and zebrafish homologues (PMID: 14504231; PMID: 22011226) which may explain limb phenotype, given PAX9 is believed to play a role in limb development

Synpolydactyly 3 (OMIM 610234) previously mapped to nearby region of 14q (no gene identified)
Created: 24 Apr 2018, 12:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
synpolydactyly

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: PMID: 25759628 - A family report. A deletion within the SLC25A21 gene at 14q13.3 was found in the proband and affected mother.
Created: 9 Apr 2018, 2:58 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial synpolydactyly of the hands and feet
  • familial synpolydactyly of the hands and feet
Tags
deletions
OMIM
607571
Clinvar variants
Variants in SLC25A21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc25a21 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Familial synpolydactyly of the hands and feet for gene: SLC25A21 Publications for gene SLC25A21 were changed from 25759628 to 22011226; 25759628; 14504231

9 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A21 was added to Limb disorders panel. Sources: Literature

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC25A21 was created by Ellen McDonagh