Thoracic dystrophies

Gene: IFT140

Green List (high evidence)

IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 16 panels

5 reviews

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JATD/MZSDS

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two green reviews, green on the Unexplained skeletal dysplasia Version 1.32 gene panel, and >3 families/cases reported.
Created: 25 May 2017, 10:34 a.m.

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JATD/MZSDS

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mainzer-Saldino Syndrome
  • Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
OMIM
614620
Clinvar variants
Variants in IFT140
Penetrance
Complete
Publications
Panels with this gene

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

Ellen McDonagh (Genomics England Curator)

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

25 May 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IFT140 were set to Mainzer-Saldino Syndrome; Short-rib thoracic dysplasia 9 with of without polydactyly, 266920

25 May 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFT140 were set to 22503633

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

IFT140 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

IFT140 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services