Thoracic dystrophies

Gene: IFT172

Green List (high evidence)

IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels

3 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases. Expert review green.
Created: 25 May 2017, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY SRTD10 #615630

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for IFT172 was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

IFT172 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen