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  2. Hereditary Spastic Paraplegia - paediatric
  3. AMFR
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Hereditary Spastic Paraplegia - paediatric

Gene: AMFR

Green List (high evidence)
AMFR (autocrine motility factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000159461
EnsemblGeneIds (GRCh37): ENSG00000159461
OMIM: 603243, Gene2Phenotype
AMFR is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 89, autosomal recessive, MIM# 620379

Created: 27 May 2023, 2:50 a.m.
Last Modified: 27 May 2023, 2:50 a.m.
Panel version: 1.61

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 37119330 reports 20 individuals harbouring AMFR variants from 8 unrelated, consanguineous families. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia.
Sources: Literature
Created: 6 May 2023, 3:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia, MONDO:0019064

Publications

Created: 6 May 2023, 3:19 a.m.

Panel version: 1.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 89, autosomal recessive, MIM# 620379
OMIM
603243
Clinvar variants
Variants in AMFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMFR were changed from Hereditary spastic paraplegia, MONDO:0019064 to Spastic paraplegia 89, autosomal recessive, MIM# 620379

27 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 May 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: AMFR was added gene: AMFR was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMFR were set to 37119330 Phenotypes for gene: AMFR were set to Hereditary spastic paraplegia, MONDO:0019064 Review for gene: AMFR was set to GREEN