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Fetal anomalies

Gene: TBCE

Green List (high evidence)
TBCE (tubulin folding cofactor E)
EnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 21 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) is a multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism, dysmorphic features, and developmental delay. The same homozygous 12-bp deletion in TBCE gene found in all patients.

Kenny-Caffey syndrome (KCS1) presents with marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroidism, cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull. The same homozygous 12-bp deletion in TBCE gene found in all patients.

Sferra et al. (2016) identified a homozygous/comp.HTZ mutations in the TCBE gene in 6 patients from 4 unrelated families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO). This is a severe neurodegenerative disorder characterized by delayed development, hypotonia apparent in infancy, subsequent motor regression, distal amyotrophy, weakness of all 4 limbs, cognitive impairment, unable to speak, severe dysarthria, optic atrophy, thin corpus callosum, and cerebellar atrophy. Segregated with disease and functional analyses performed.
Created: 21 Feb 2022, 4:33 a.m. | Last Modified: 21 Feb 2022, 4:33 a.m.
Panel Version: 0.3721

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Kenny-Caffey syndrome, type 1, OMIM #244460; Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207

Publications

Created: 21 Feb 2022, 4:33 a.m.
Last Modified: 21 Feb 2022, 4:33 a.m.
Panel version: 0.3721

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbce has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBCE were changed from HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1 to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Kenny-Caffey syndrome, type 1, OMIM #244460; Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207

21 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBCE were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBCE was added gene: TBCE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCE were set to HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1