Renal ciliopathies

Gene: IFT43

Comment on list classification: Updated rating from Amber to Green based on two Green reviews from Penny Clouston and Zornitza Stark. Sufficient cases in the literature to support inclusion on the Ciliopathy panel, including two cases of short-rib thoracic dysplasia with polydactyly from PMID:28400947. Plus confirmed rating in DDG2P for CRANIOECTODERMAL DYSPLASIA TYPE 3; CED3 (also known as Sensenbrenner syndrome) is a rare autosomal recessive heterogeneous ciliopathy. Plus functional role with IFT43 involved in ciliary transport.

Created: 17 Jun 2019, 8:25 a.m. | Last Modified: 20 Jun 2019, 8:21 p.m.

Panel Version: 1.108

Transferring existing information over from Publications field: PMID:26892345 - a case report of a girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms identified a 4q24.2q24.3 microdeletion containing the IFT43 gene could provide some additional evidence: "immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder."
PMID:24027799 (GeneReviews).

Created: 17 Jun 2019, 8:22 a.m.

Green List (high evidence)

Four unrelated families reported in the literature with SRPS or Sensenbrenner syndrome (3/4 cases affect the initiation codon):
21378380 - 2 siblings
28400947 - 2 families, 3 individuals in total
29896747 - 1 individual

Created: 17 Sep 2018, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short rib polydactyly; Sensenbrenner syndrome

Publications

• 21378380
• 28400947
• 29896747

Green List (high evidence)

3 cases from two additional families reported with SRPS, a ciliopathy.

Created: 4 Aug 2018, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib polydactyly syndrome

Publications

• 28400947

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

Red List (low evidence)

Comment on list classification: Recognised on G2P and offered on GOS panel. IFT43 known to be involved in cilia function. IFT43 patient fibroblasts show shorter cilia similar to IFT122 mutated patients

Created: 19 Jan 2017, 2:50 p.m.

Mutations only identified in one family but offered on GOS ciliopathy panel

Created: 19 Jan 2017, 2:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 3 614099

Publications

• 21378380