KIAA0753

KIAA0753
OMIM: 617112, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KIAA0753 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479 ?Orofaciodigital syndrome XV - MIM#617127 Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
Green KIAA0753 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XV 617127 Joubert syndrome 38, MIM# 619476 Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479
Green KIAA0753 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome 38, MIM# 619476
Green KIAA0753 in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XV, MIM# 617127 Joubert syndrome 38, MIM# 619476 Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479
Green KIAA0753 in Skeletal Ciliopathies Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479
Red KIAA0753 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib skeletal dysplasia Orofaciodigital syndrome XV, MIM# 617127 Jeune ATD
Green KIAA0753 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Other Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome 38, MIM# 619476 Short-rib skeletal dysplasia
Green KIAA0753 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Orofaciodigital syndrome XV, MONDO:0014932 Orofaciodigital syndrome XV, OMIM:617127 Joubert syndrome