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Skeletal dysplasia

Gene: IFT81

Amber List (moderate evidence)

IFT81 (intraflagellar transport 81)
EnsemblGeneIds (GRCh38): ENSG00000122970
EnsemblGeneIds (GRCh37): ENSG00000122970
OMIM: 605489, Gene2Phenotype
IFT81 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported.
Created: 3 Jan 2020, 9:33 a.m. | Last Modified: 3 Jan 2020, 9:33 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly -617895
  • Short-Rib Polydactyly Syndrome
OMIM
605489
Clinvar variants
Variants in IFT81
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift81 has been classified as Amber List (Moderate Evidence).

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT81 was added gene: IFT81 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418 Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly -617895; Short-Rib Polydactyly Syndrome