Skeletal ciliopathies
Gene: INTU

INTU (inturned planar cell polarity protein)
EnsemblGeneIds (GRCh38): ENSG00000164066
EnsemblGeneIds (GRCh37): ENSG00000164066
OMIM: 610621, Gene2Phenotype
INTU is in 5 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 11:48 a.m. | Last Modified: 11 Oct 2023, 11:48 a.m.

Panel Version: 3.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 11:48 a.m.
Last Modified: 11 Oct 2023, 11:48 a.m.
Panel version: 3.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Zornitza Stark, there are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review.
Created: 25 May 2023, 1:30 p.m. | Last Modified: 25 May 2023, 1:32 p.m.

Panel Version: 3.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926

Publications

Created: 25 May 2023, 1:28 p.m.
Last Modified: 25 May 2023, 1:32 p.m.
Panel version: 3.6

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families and a mouse model:

PMID: 27158779 - 1 hom (PTC) and 1 compound het (PTC/missense) patients with OFD or Short-rib thoracic dysplasia

PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system

PMID: 29451301 - 1 compound het patient (missense/CNV) with OFD and polydactyly
Sources: Literature
Created: 11 Jun 2021, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925

Publications

Created: 11 Jun 2021, 8:28 a.m.

Panel version: 1.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925
?Orofaciodigital syndrome XVII, OMIM:617926

OMIM

610621

Clinvar variants

Variants in INTU

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: INTU.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to INTU. Source NHS GMS was added to INTU. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 May 2023, Gel status: 2