PanelApp
  1. Genes and Genomic Entities
  2. TBCE

TBCE

tubulin folding cofactor E
OMIM: 604934, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green TBCE in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410

    Green TBCE in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.91

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207

    Green TBCE in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalopathy, progressive, with amyotrophy and optic atrophy
    • Hypoparathyroidism-retardation-dysmorphism syndrome
    • Kenny-Caffey syndrome, type 1

    Red TBCE in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


    Level 2: Endocrine disorders
    Version 0.33

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410

    Green TBCE in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.29

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410

    Green TBCE in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Encephalopathy, progressive, with amyotrophy and optic atrophy 617207

    Green TBCE in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410

    Green TBCE in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207
    • Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410

    Green TBCE in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome 241410
    • Kenny-Caffey syndrome, type 1 244460.
    • Kenny-Caffey syndrome, type 1 244460

    Green TBCE in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207

    Green TBCE in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.102

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    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 0.29

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    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 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Kenny-Caffey syndrome-1, 244460 (3)

    Red TBCE in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Hypoparathyroidism retardation dysmorphism syndrome

    Green TBCE in Growth failure


    Version 1.83

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Kenny-Caffey syndrome, type 1, MIM# 244460
    • Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome

    Green TBCE in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
    • Kenny-Caffey syndrome, type 1, OMIM #244460
    • Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207

    Green TBCE in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    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 1.7

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426

    Red TBCE in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hypoparathyroidism retardation dysmorphism syndrome

    Green TBCE in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410

    Green TBCE in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207
    • Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410
    • Kenny-Caffey syndrome, type 1 MIM#244460