Limb disorders

Gene: SLC25A21

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

• 25759628
• 14504231
• 22011226

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.

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

• PMID: 25759628

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.