GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ATP7A

ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Neither gene nor any of the OMIM disorders are listed in the SD nosology paper. Occipital horn syndrome is associated with hyperestensible joints and multiple skeletal abnormlaities (OMIM) - at least 3 cases reported. Green if fits SD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, 300489

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
NHS GMS

Phenotypes

Spinal muscular atrophy, distal, 300489
Menkes disease 309400
Occipital horn syndrome 304150

OMIM

300011

Clinvar variants

Variants in ATP7A

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ATP7A was added gene: ATP7A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ATP7A