Motor Neurone Disease

Gene: ATP7A

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

Red List (low evidence)

Onset is typically in childhood, appropriately included in Hereditary Neuropathy_Isolated panel.

Created: 28 Sep 2020, 5:03 a.m. | Last Modified: 28 Sep 2020, 5:03 a.m.

Panel Version: 0.93

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

Phenotypes
Spinal muscular atrophy, distal, X-linked 3, 300489

Green List (high evidence)

Comment on list classification: Including SMA as a motor neuron disease

Created: 15 Jan 2020, 3:22 a.m. | Last Modified: 15 Jan 2020, 3:22 a.m.

Panel Version: 0.38

Sources: Expert list

Created: 15 Jan 2020, 3:21 a.m.

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

Phenotypes
Spinal muscular atrophy, distal, X-linked 3, 300489