Calcium and Phosphate disorders
Gene: TBCEEnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay
Sources: LiteratureCreated: 28 Nov 2022, 10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Publications
- PMID: 27666369
Elena Savva (Victorian Clinical Genetics Services)
HRDS/KCS - most cases a recurrent 12-bp deletion, but also PTCs (OMIM)
EPAOA - hom miss and chet miss/PTCs (OMIM)
Missense proven LOFCreated: 21 Feb 2020, 4:46 a.m. | Last Modified: 21 Feb 2020, 4:46 a.m.
Panel Version: 0.1415
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1
Publications
- PMID: 27666369
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
- OMIM
- 604934
- Clinvar variants
- Variants in TBCE
- Penetrance
- None
- Publications
-
- PMID: 27666369
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Calcium and Phosphate disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Familial hypoparathyroidism
- Renal Tubulopathies and related disorders
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tbce has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TBCE was added gene: TBCE was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Literature Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to PMID: 27666369 Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Review for gene: TBCE was set to GREEN