Familial hypoparathyroidism
Gene: TBCEAs 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.
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.
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
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Caffey syndrome, type 1, 244460
Phenotypes for gene TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Caffey syndrome, type 1, 244460
Model of inheritance for gene TBCE was changed to BIALLELIC, autosomal or pseudoautosomal
TBCE was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
TBCE was added to Familial or syndromic hypoparathyroidismpanel. Sources: Radboud University Medical Center, Nijmegen