Gene Symbol:
TBCE
HGNC:11582
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q42.3
Filters:

Definitive classifications

hypoparathyroidism-retardation-dysmorphism syndrome
Submitted as: OMIM:241410
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

hypoparathyroidism-retardation-dysmorphism syndrome
Submitted as: OMIM:241410
AR
03/06/2020
Evaluated
11/30/2023
Submitted
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Submitted as: OMIM:617193
AR
03/06/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

autosomal recessive Kenny-Caffey syndrome
Submitted as: OMIM:244460
AR
03/25/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

hypoparathyroidism-retardation-dysmorphism syndrome
Submitted as: Orphanet:2323
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive Kenny-Caffey syndrome
Submitted as: Orphanet:93324
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

encephalopathy, progressive, with amyotrophy and optic atrophy
Submitted as: OMIM:617207
AR
03/28/2022
Evaluated
08/19/2023
Submitted

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