Familial tumoral calcinosis
Gene: GALNT3EnsemblGeneIds (GRCh38): ENSG00000115339
EnsemblGeneIds (GRCh37): ENSG00000115339
OMIM: 601756, Gene2Phenotype
GALNT3 is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
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, 3:08 p.m.
Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM.Created: 17 Jan 2019, 9:37 a.m.
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
- OMIM
- 601756
- Clinvar variants
- Variants in GALNT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Multiple monogenic benign skin tumours
- Familial tumoral calcinosis
- Fetal anomalies
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GALNT3 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: galnt3 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Created, Added New Source, Set mode of inheritance, Set publications
Ivone Leong (Genomics England Curator)gene: GALNT3 was added gene: GALNT3 was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 15133511