Arthrogryposis
Gene: ATAD1
ATAD1 (ATPase family, AAA domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000138138
EnsemblGeneIds (GRCh37): ENSG00000138138
OMIM: 614452, Gene2Phenotype
ATAD1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000138138
EnsemblGeneIds (GRCh37): ENSG00000138138
OMIM: 614452, Gene2Phenotype
ATAD1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least one family where arthrogryposis was a prominent manifestation of this neurological condition.
Sources: Expert listCreated: 11 Jul 2020, 12:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 4, MIM# 618011
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hyperekplexia 4, MIM# 618011
- OMIM
- 614452
- Clinvar variants
- Variants in ATAD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atad1 has been classified as Amber List (Moderate Evidence).
11 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atad1 has been classified as Amber List (Moderate Evidence).
11 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATAD1 was added gene: ATAD1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 29659736; 29390050; 28180185 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM# 618011 Review for gene: ATAD1 was set to AMBER