Genetic Epilepsy

Gene: ATP7A

Green List (high evidence)

Well established gene-disease association. Seizures are a feature.

Created: 23 Sep 2022, 2:54 a.m. | Last Modified: 23 Sep 2022, 2:54 a.m.

Panel Version: 0.1668

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

Phenotypes
Menkes disease MIM#309400

Green List (high evidence)

Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism.
Sources: NHS GMS

Created: 1 Feb 2021, 5:13 a.m.

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

Phenotypes
Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism

Publications

• 7842019
• 8981948

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Menkes disease results from complete loss of transcript, while minimal residual transcript causes the milder OHS. Females have been described with the Occipital horn syndrome phenotype (OMIM).

Missense variants usually lead to splicing defects (PMID: 21221114)

Created: 27 Nov 2020, 3:09 a.m. | Last Modified: 27 Nov 2020, 3:09 a.m.

Panel Version: 0.5474

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489

Publications

• PMID: 21221114