Familial hypoparathyroidism

Gene: TBCE

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 5 Feb 2019, 2:42 p.m.

I don't know

This gene seems to be associated with severe syndromic hypoparathyroidism - dysmorphism and retardation, rather than isolated hypoparathyroisdism/hypoparathyroidism as the first presenting feature.
Inclusion on familial hypoparathyroidism panels might not be indicated under this panel /test indication.
I have not reviewed the gene extensively.

Created: 9 Jan 2019, 7:08 p.m.

Green List (high evidence)

A single founder mutation identified in 34 families in above PMID (12bp deletion in Israeli / Saudi / Palestinian families). Further case with compound heterozygous truncations also reported. Phenotype is appropriate for this panel. Considered diagnostic grade, although the mutational spectrum/frequency remains to be determined in other populations.

Created: 7 Jun 2017, 7:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460

Publications

• 12389028

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. No reviewer comments. One Hmz terminating variant in >50 Middle Eastern subjects, compound Htz two additional terminating variants.

Created: 3 Jun 2016, 3:16 p.m.