Thoracic dystrophies
Gene: ICKAdded new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1Created: 25 Sep 2019, 10:03 a.m. | Last Modified: 25 Sep 2019, 10:03 a.m.
Panel Version: 1.7
Comment on list classification: Two green reviews and is green on the Unexplained skeletal dysplasia Version 1.32 gene panels. One family, one case and six infants in an Old Order Amish pedigree reported, with in vitro evidence.Created: 26 May 2017, 12:10 p.m.
Phenotypes
SRPS/ECO
Phenotypes
SRPS/ECO
Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651; ORPHA:199332 Endocrine-cerebro-osteodysplasia syndrome to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tag new-gene-name tag was added to gene: ICK.
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 Green List (High Evidence).
Mode of inheritance for ICK was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for ICK were set to Endocrine-cerebroosteodysplasia 612651;ORPHA:199332 Endocrine-cerebro-osteodysplasia syndrome
This gene has been classified as Amber List (Moderate Evidence).
Publications for ICK were set to 27466187; 27069622;19185282
Publications for ICK were set to 27466187;27069622
Publications for ICK were set to 27466187
This proposed gene was validated and added to this panel
ICK was added to Thoracic dystrophiespanel. Sources: Expert Review
ICK was created by hmitchis