TBCE

tubulin folding cofactor E
OMIM: 604934, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green TBCE in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Green TBCE in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Green TBCE in Osteopetrosis Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Kenny-Caffey syndrome, type 1, MIM# 244460
Red TBCE in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Green TBCE in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Green TBCE in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
Green TBCE in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Green TBCE in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome, type 1 244460. Kenny-Caffey syndrome, type 1 244460
Green TBCE in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
Green TBCE in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kenny-Caffey syndrome, type 1 244460. Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome, type 1 244460
Green TBCE in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Kenny-Caffey syndrome-1, 244460 (3)
Green TBCE in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Kenny-Caffey syndrome, type 1, MIM# 244460 Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome
Green TBCE in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410 Kenny-Caffey syndrome, type 1 MIM#244460
Green TBCE in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426
Red TBCE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hypoparathyroidism retardation dysmorphism syndrome
Green TBCE in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Literature Expert Review Green Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Green TBCE in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410 Kenny-Caffey syndrome, type 1 MIM#244460