Brain Calcification
Gene: TBCEEnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Yetong Chen (University of Melbourne)
PMID 35935360 reports a total of 63 patients with hypoparathyroidism-retardation-dysmorphism (HRD) Syndrome, of which 32 had brain calcifications. Although the paper states that 25 of 63 patients had genetic diagnoses, the number of patients with brain calcification carrying TBCE variants is unclear.
Sources: Expert listCreated: 7 May 2023, 11:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
- OMIM
- 604934
- Clinvar variants
- Variants in TBCE
- Penetrance
- None
- Publications
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbce has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbce has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: TBCE was added gene: TBCE was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 28138323; 35935360 Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Review for gene: TBCE was set to AMBER