Thoracic dystrophies
Gene: INTUEnsemblGeneIds (GRCh38): ENSG00000164066
EnsemblGeneIds (GRCh37): ENSG00000164066
OMIM: 610621, Gene2Phenotype
INTU is in 5 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment 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.
Ellen McDonagh (Genomics England Curator)
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.
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
SRPS
Hannah Mitchison (UCL and GOSH)
Phenotypes
SRPS
Details
- Sources
-
- Expert Review Amber
- Phenotypes
-
- SRPS
- OMIM
- 610621
- Clinvar variants
- Variants in INTU
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for INTU were set to SRPS
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INTU were set to 28289185; 25774014;20067783
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for INTU were set to SRPS;Brachydactyly-arterial hypertension syndrome ORPHA:1276
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INTU were set to 28289185; 25774014
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INTU were set to 28289185
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Hannah Mitchison (UCL and GOSH)INTU was added to Thoracic dystrophiespanel. Sources: Expert Review
Created
Hannah Mitchison (UCL and GOSH)INTU was created by hmitchis