Thoracic dystrophies
Gene: INTUComment when marking as ready: Considered amber, unless further evidence of a thoracic phenotype is identified in humans.Created: 30 May 2017, 12:11 p.m.
Comment on list classification: Expert review green, however not associated with phenotype in OMIM or Orphanet. One case reported for Oral-facial-digital syndromes with Cardiac defects.Created: 30 May 2017, 8:53 a.m.
Comment on publications: 28289185 - One case represented in Table 1, with Oral-facial-digital syndromes with Cardiac defects.Created: 30 May 2017, 8:48 a.m.
Comment on publications: PMID: 25774014 - INTU mouse model showing importance in skeletal developmentCreated: 30 May 2017, 8:41 a.m.
Phenotypes
SRPS
Phenotypes
SRPS
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for INTU were set to SRPS
Publications for INTU were set to 28289185; 25774014;20067783
Phenotypes for INTU were set to SRPS;Brachydactyly-arterial hypertension syndrome ORPHA:1276
Publications for INTU were set to 28289185; 25774014
Publications for INTU were set to 28289185
This proposed gene was validated and added to this panel
INTU was added to Thoracic dystrophiespanel. Sources: Expert Review
INTU was created by hmitchis