IFT140

intraflagellar transport 140
OMIM: 614620, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green IFT140 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green IFT140 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 MONDO:0009964 Retinitis pigmentosa 80, MIM# 617781 Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant Cranioectodermal dysplasia 5, MIM# 621180
Green IFT140 in Mendeliome Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes IFT140-related recessive ciliopathy MONDO:0100509 Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Retinitis pigmentosa 80, MIM# 617781 {Polycystic kidney disease 9, susceptibility to} MIM#621164 Cranioectodermal dysplasia 5, MIM# 621180
Green IFT140 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 Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Green IFT140 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 9 with or without polydactyly, MIM# 266920 MONDO:0009964
Green IFT140 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 MONDO:0009964 Cranioectodermal dysplasia 5, MIM# 621180 {Polycystic kidney disease 9, susceptibility to} MIM#621164
Green IFT140 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Polycystic kidney disease 9, susceptibility to} MIM#621164
Red IFT140 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920
Green IFT140 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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Green IFT140 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 80, MIM# 617781
Green IFT140 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 80
Green IFT140 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Green IFT140 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 SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY SRTD9
Green IFT140 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Green IFT140 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920)