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  3. LINGO1
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Microcephaly

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

5 individuals from two unrelated families reported, limited functional data. 4/5 had microcephaly.
Created: 31 Aug 2020, 8:43 p.m. | Last Modified: 31 Aug 2020, 8:43 p.m.
Panel Version: 0.238

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 64, MIM# 618103

Publications

Created: 31 Aug 2020, 8:43 p.m.
Last Modified: 31 Aug 2020, 8:43 p.m.
Panel version: 0.238

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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

31 Aug 2020, 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).

31 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LINGO1 were changed from to Mental retardation, autosomal recessive 64, MIM# 618103

31 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LINGO1 were set to

31 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LINGO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Aug 2020, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LINGO1 was added gene: LINGO1 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LINGO1 was set to Unknown