TBCE

tubulin folding cofactor E
OMIM: 604934, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TBCE in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory
Green TBCE in Familial hypoparathyroidism Level 2: Endocrinology Version 3.5 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 Caffey syndrome, type 1, 244460
Green TBCE in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Kenny-Caffey syndrome, type 1 244460. Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome, type 1 244460
Green TBCE in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME KENNY-CAFFEY SYNDROME TYPE 1 Tags watchlist
No list TBCE in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Disproportionate Short Stature Tags curated_removed
Green TBCE in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
Green TBCE in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Kenny-Caffey syndrome, type 1, OMIM:244460 autosomal recessive Kenny-Caffey syndrome, MONDO:0009486 Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426
Green TBCE in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207
Red TBCE in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red