Skeletal dysplasia

Gene: TOPORS

I don't know

PMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele.

Further search did not identify any additional publications.

Created: 7 Jan 2022, 3:34 a.m. | Last Modified: 7 Jan 2022, 3:34 a.m.

Panel Version: 0.10552

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Postaxial polydactyly:multiple lingual hamartomas:dysmorphic features

Publications

• PMID:34132027

Green List (high evidence)

TOPORS is a ciliopathy protein localized to the base of the primary cilium (OMIM). No inheritance pattern noted in OMIM however AD appears to be consistent between 5 families currently reported.

PMID: 17924349; Chakarova 2007: Reported different het variants in 2 families. Haploinsufficiency suggested meechanism. Variants not present in gnomAD.

PMID: 28453362; Latasiewicz 2017: Het variant reported in one family.

PMID: 18509552; Bowne 2008: 2 additional adRP families reported.

Green in 'Retinal disorders' panel - PanelApp UK
Sources: Expert Review

Created: 20 May 2020, 4:26 a.m.

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

Phenotypes
Retinitis pigmentosa 31 (MIM#609923)

Publications

• 21159800
• 17924349
• 28453362
• 18509552