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  3. FICD
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Hereditary Spastic Paraplegia - paediatric

Gene: FICD

Green List (high evidence)
FICD (FIC domain containing)
EnsemblGeneIds (GRCh38): ENSG00000198855
EnsemblGeneIds (GRCh37): ENSG00000198855
FICD is in 5 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Created: 3 Nov 2022, 3:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary motor neurone disease, FICD-related, MONDO:0024257

Publications

Created: 3 Nov 2022, 3:31 a.m.

Panel version: 1.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, MIM# 620911
Clinvar variants
Variants in FICD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM# 620911

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: ficd has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: ficd has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: FICD was added gene: FICD was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36136088 Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257 Review for gene: FICD was set to GREEN