Limb disordersGene: SLC25A21
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
Familial synpolydactyly of the hands and feet
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.
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
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.
Ellen McDonagh: Comment on list classification
Gene: slc25a21 has been classified as Red List (Low Evidence).
Added phenotypes Familial synpolydactyly of the hands and feet for gene: SLC25A21 Publications for gene SLC25A21 were changed from 25759628 to 22011226; 25759628; 14504231
This gene has been classified as Red List (Low Evidence).
SLC25A21 was added to Limb disorders panel. Sources: Literature
SLC25A21 was created by Ellen McDonagh