Skeletal dysplasia
Gene: AGA
causes skeletal abnormalities as well as connective tissue lesions. Note from panelapp - Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short. Listed in Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Possible short stature in adulthood - easily diagnosed biochemically. patients with AGU excrete large amounts of aspartylglucosamine in urine, biochemical detection is easy by urine chromatography - exclude before WGS? Note added by AW - AGA yes. Listed in Bonafe Am J Med Genet 16 (nosology of skeletal dysplasia). Also: He had a slow psychomotor development and skeletal changes consistent with numerous changes in small bones.- Khaldi, Saudi Med J 97; Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. OMIM; Review on behalf of Tracy Lester/Andrew WilkieCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: AGA; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 8 Jul 2016, 10:03 a.m.
Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)Created: 8 Jul 2016, 10:02 a.m.
Tier 3Created: 15 Jun 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) for gene: AGA
Source NHS GMS was added to AGA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
AGA was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Phenotypes for AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
This gene has been classified as Green List (High Evidence).
AGA was added to Unexplained skeletal dysplasiapanel. Sources:
AGA was created by sleigh