Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: LINGO1

Amber List (moderate evidence)

LINGO1 (leucine rich repeat and Ig domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000169783
EnsemblGeneIds (GRCh37): ENSG00000169783
OMIM: 609791, Gene2Phenotype
LINGO1 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

5 individuals reported from 2 families. 4 out of the 5 individuals had microcephaly. ID, developmentatl delay, spasticity, hypertonia, feeding problems also reported features. No antenatal information or birth growth parameters provided, but it is possible that microcephaly was antenatal/congenital in onset based on other phenotypic features reported.
Sources: Literature
Created: 1 Mar 2022, 4:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 64 - MIM#618103

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 64 - MIM#618103
OMIM
609791
Clinvar variants
Variants in LINGO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lingo1 has been classified as Amber List (Moderate Evidence).

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lingo1 has been classified as Amber List (Moderate Evidence).

1 Mar 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: LINGO1 was added gene: LINGO1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO1 were set to 28837161; 31668702 Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 - MIM#618103 Review for gene: LINGO1 was set to AMBER