IFT81

intraflagellar transport 81
OMIM: 605489, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green IFT81 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Green IFT81 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Green IFT81 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Green IFT81 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 Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Red IFT81 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 KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly OMIM #617895
Green IFT81 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly -617895 Short-Rib Polydactyly Syndrome
Amber IFT81 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Green IFT81 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485 Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895