Growth failure
Gene: TBCEEnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are associated with multiple phenotypes.
Sanjad-Sakati syndrome comprises congenital hypoparathyroidism, intellectual disability, facial dysmorphism and extreme growth failure. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome. However, note reports of families with overlapping features, hence likely to represent a spectrum rather than two distinct disordersCreated: 15 Aug 2021, 2:38 a.m. | Last Modified: 15 Aug 2021, 2:38 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kenny-Caffey syndrome, type 1, MIM# 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome
Publications
Details
- Mode of Inheritance
- 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
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TBCE were changed from to Kenny-Caffey syndrome, type 1, MIM# 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TBCE were set to
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TBCE was added gene: TBCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal