CILK1

ciliogenesis associated kinase 1
OMIM: 612325, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CILK1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	2 reviews	Unknown	Sources Expert Review Green Genomics England PanelApp Expert list Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green CILK1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Endocrine-cerebroosteodysplasia (MIM#612651) Cranioectodermal dysplasia 6, MIM# 621337 Tags new gene name
Amber CILK1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Endocrine-cerebroosteodysplasia (MIM#612651)
Green CILK1 in Mendeliome Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Endocrine-cerebroosteodysplasia (MIM#612651) Tags new gene name
Green CILK1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Endocrine-cerebroosteodysplasia, MIM# 612651
Green CILK1 in Skeletal Ciliopathies Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Endocrine-cerebroosteodysplasia (MIM#612651)
Amber CILK1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Endocrine-cerebroosteodysplasia, MIM# 612651 Cranioectodermal dysplasia 6, MIM# 621337
Green CILK1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CILK1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Phenotypes Endocrine-cerebroosteodysplasia 612651
Amber CILK1 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cranioectodermal dysplasia 6, MIM# 621337
Green CILK1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ECO Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)
Green CILK1 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980