Hereditary spastic paraplegia - childhood onset

Gene: C19orf12

Green List (high evidence)

C19orf12 (chromosome 19 open reading frame 12)
EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 18 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Insufficient evidence yet. Only two patients reported with HSP although patients with NBIA do show spasticity. No further patients identified using Sheffield panel.
Created: 8 May 2019, 4:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria: same mutation can present with or without brain iron accumulation. I would tend to put in the list, but so far only one variant was associated with HSP. Most published mutations-Neurodegeneration with brain iron accumulation 4, spasticity can be a feature . 1 HSP related mutation published In 2 sisters, born of consanguineous Malian parents. In Sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298

Arianna Tucci (Genomics England Curator)

onset in the first decade for Neurodegeneration with brain iron accumulation 4
Created: 14 Jan 2019, 4:32 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: C19orf12 were set to 23857908

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to C19orf12.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to C19orf12.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to C19orf12.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: onset in the first decade for

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, 614298 to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043

28 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: C19orf12 were set to Landoure (2013)

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, 614298

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: C19orf12 was added gene: C19orf12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to Landoure (2013)