1. Panels
  2. DDG2P
  3. AMFR
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: AMFR

Green List (high evidence)
AMFR (autocrine motility factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000159461
EnsemblGeneIds (GRCh37): ENSG00000159461
OMIM: 603243, Gene2Phenotype
AMFR is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease AMFR-related spastic paraplegia with/without neurodevelopmental delay is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37119330).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AMFR-related spastic paraplegia with/without neurodevelopmental delay

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMFR-related spastic paraplegia with/without neurodevelopmental delay
OMIM
603243
Clinvar variants
Variants in AMFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: AMFR was added gene: AMFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 AMFR-related spastic paraplegia with/without neurodevelopmental delay