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DDG2P

Gene: L1CAM

Green List (high evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 15 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350
  • SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350
  • HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000
  • PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 for gene: L1CAM Publications for gene L1CAM were changed from 26916325 to 7920659; 7920660; 3460961

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 for gene: L1CAM Publications for gene L1CAM were changed from 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550 to 26916325

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000 for gene: L1CAM Publications for gene L1CAM were changed from 7920659; 7920660; 3460961 to 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: L1CAM was added gene: L1CAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 7920659; 7920660; 3460961 Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350