Hereditary spastic paraplegia - adult onset

Gene: SERAC1

Green List (high evidence)

SERAC1 (serine active site containing 1)
EnsemblGeneIds (GRCh38): ENSG00000122335
EnsemblGeneIds (GRCh37): ENSG00000122335
OMIM: 614725, Gene2Phenotype
SERAC1 is in 16 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression, during the infantile or childhood period.

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
Created: 20 Aug 2021, 2:11 p.m. | Last Modified: 20 Aug 2021, 2:11 p.m.
Panel Version: 1.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 22 Sep 2020, 5:17 a.m. | Last Modified: 22 Sep 2020, 5:17 a.m.
Panel Version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. No reports of adult onset.
Created: 10 May 2019, 9:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

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

Green List (high evidence)

several publications were spasticity is mentioned in pt phenotype. PubMed: 28916646 6 members of a large consanguineous Iraqi family with a mild variant of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome. patients also presented with juvenile-onset progressive spastic paraplegia and mild cognitive impairment, although none had deafness. The findings expanded the phenotypic spectrum associated with SERAC1 mutations.. Victoria: GREEN
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome

History Filter Activity

14 Dec 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_phenotype tag was added to gene: SERAC1.

20 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SERAC1 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SERAC1.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SERAC1. Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SERAC1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SERAC1 was added gene: SERAC1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SERAC1 was set to