Arthrogryposis
Gene: ADAMTS15EnsemblGeneIds (GRCh38): ENSG00000166106
EnsemblGeneIds (GRCh37): ENSG00000166106
OMIM: 607509, Gene2Phenotype
ADAMTS15 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 12, MIM# 620545
Naomi Baker (Victorian Clinical Genetics Services)
PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: LiteratureCreated: 1 Sep 2022, 6:34 a.m. | Last Modified: 1 Sep 2022, 6:39 a.m.
Panel Version: 0.350
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis (MONDO:0008779), ADMATS15-related
Publications
- PMID: 35962790
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Arthrogryposis, distal, type 12, MIM# 620545
- OMIM
- 607509
- Clinvar variants
- Variants in ADAMTS15
- Penetrance
- None
- Publications
-
- PMID: 35962790
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts15 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts15 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)gene: ADAMTS15 was added gene: ADAMTS15 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to PMID: 35962790 Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related Review for gene: ADAMTS15 was set to GREEN