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Mendeliome

Gene: FAM20B

Amber List (moderate evidence)

FAM20B (FAM20B, glycosaminoglycan xylosylkinase)
EnsemblGeneIds (GRCh38): ENSG00000116199
EnsemblGeneIds (GRCh37): ENSG00000116199
OMIM: 611063, Gene2Phenotype
FAM20B is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities.
Sources: Other
Created: 10 Oct 2022, 5:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia MONDO:0015426

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Desbuquois dysplasia MONDO:0015426
OMIM
611063
Clinvar variants
Variants in FAM20B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fam20b has been classified as Amber List (Moderate Evidence).

10 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fam20b has been classified as Amber List (Moderate Evidence).

10 Oct 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FAM20B was added gene: FAM20B was added to Mendeliome. Sources: Other Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802 Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426 Review for gene: FAM20B was set to AMBER