Skeletal ciliopathies
Gene: INTU
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
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
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: LiteratureCreated: 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
Tag Q2_23_promote_green was removed from gene: INTU.
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)
Tag Q2_23_promote_green tag was added to gene: INTU.
Gene: intu has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926
Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926
Phenotypes for gene: INTU were changed from Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926
Publications for gene: INTU were set to 27158779; 29451301; 20067783
gene: INTU was added gene: INTU was added to Skeletal ciliopathies. Sources: Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to 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