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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. RELN
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Cerebellar and Pontocerebellar Hypoplasia

Gene: RELN

Green List (high evidence)
RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional families with bi-allelic variants reported. Cerebellar hypoplasia is a feature.
Created: 14 Jul 2022, 12:40 a.m. | Last Modified: 14 Jul 2022, 12:40 a.m.
Panel Version: 1.53
Bi-allelic variants in this gene are classically associated with lissencephaly. One report of PCH but also in context of lissencephaly.
Created: 14 Feb 2021, 7:03 a.m. | Last Modified: 14 Feb 2021, 7:03 a.m.
Panel Version: 0.194

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 2 (Norman-Roberts type), MIM# 257320

Publications

Created: 14 Feb 2021, 7:03 a.m.
Last Modified: 14 Feb 2021, 7:03 a.m.
Panel version: 1.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), MIM# 257320
OMIM
600514
Clinvar variants
Variants in RELN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RELN were set to 27000652

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: reln has been classified as Red List (Low Evidence).

14 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320

14 Feb 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RELN were set to

14 Feb 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: reln has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RELN was added gene: RELN was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RELN was set to Unknown