Prepair 1000+

Gene: TBCE

Green List (high evidence)

1. Hypoparathyroidism-retardation-dysmorphism characterised by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay. Most cases a recurrent 12-bp deletion

2. Kenny-Caffey syndrome - autosomal recessive bone dysplasia characterized by short stature, osteosclerosis with medullary stenosis of the long bones, episodic hypocalcemia, and ocular abnormalities. Patients usually exhibit microcephaly, normal closure of the fontanels, and psychomotor delay. Most cases a recurrent 12-bp deletion

3. MIM#617207 - PMID: 27666369 - 6 patients (4 unrelated families) with early-onset, progressive neurodegeneration encephalopathy with spinal muscular atrophy, supported by functional studies. Patients present within the first 18 months of life, phenotypes include hypotonia (3/6), dev delay (6/6), signs of regression (6/6, distal amyotrophy, ataxia, spasticity).
Missense variant p.I155N is recurring, very rare in gnomAD. Authors suggest founder effect for this variant - Italian origin.
PMID: 34134906 - case report of a compound het (c.464 T > A; p. (Ile155Asn) and c.924del; p. (Leu309Ter) Southern Italy . Authors describe TBCE-related neurodegeneration characterized by unusual features of early developmental delay followed by progressive neurodegeneration.

Created: 25 Sep 2024, 12:20 p.m. | Last Modified: 25 Sep 2024, 12:20 p.m.

Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 27666369 34134906 17699660 34356170 12389028