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Fetal anomalies

Gene: INTU

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926.
Created: 25 Jul 2019, 8:15 a.m. | Last Modified: 25 Jul 2019, 8:15 a.m.
Panel Version: 0.316
This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. PMID:28289185 (1 case), PMID:29451301 (1 case).
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
OMIM
610621
Clinvar variants
Variants in INTU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: INTU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: INTU was added gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to 28289185; 30266093; 29451301 Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925