1. Panels
  2. Ciliopathies
  3. INTU
STRs in panel
Prev Next
Regions in panel
Prev Next

Ciliopathies

Gene: INTU

Green List (high evidence)
INTU (inturned planar cell polarity protein)
EnsemblGeneIds (GRCh38): ENSG00000164066
EnsemblGeneIds (GRCh37): ENSG00000164066
OMIM: 610621, Gene2Phenotype
INTU is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient 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 chet patient (missense/CNV) with OFD and polydactyly
Sources: Literature
Created: 10 May 2021, 11:44 p.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: 10 May 2021, 11:44 p.m.

Panel version: 0.277

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Orofaciodigital syndrome XVII MIM#617926
  • ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
OMIM
610621
Clinvar variants
Variants in INTU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: intu has been classified as Green List (High Evidence).

11 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: intu has been classified as Green List (High Evidence).

10 May 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: INTU was added gene: INTU was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to PMID: 27158779; 29451301; 20067783 Phenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 Review for gene: INTU was set to GREEN