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  2. Lymphoedema_nonsyndromic
  3. CELSR1
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Lymphoedema_nonsyndromic

Gene: CELSR1

Green List (high evidence)
CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000075275
EnsemblGeneIds (GRCh37): ENSG00000075275
OMIM: 604523, Gene2Phenotype
CELSR1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 unrelated families reported.
Created: 16 May 2021, 7:21 a.m. | Last Modified: 16 May 2021, 7:21 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 9, MIM# 619319

Publications

Created: 16 May 2021, 7:19 a.m.
Last Modified: 16 May 2021, 7:19 a.m.
Panel version: 0.22

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

nonsyndromic lymphoedema
LOF variants
Sources: Literature
Created: 27 Jan 2020, 10:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
lymphoedema

Publications

Created: 27 Jan 2020, 10:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 9, MIM# 619319
OMIM
604523
Clinvar variants
Variants in CELSR1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

16 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CELSR1 were set to 31215153

16 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CELSR1 were changed from lymphoedema to Lymphatic malformation 9, MIM# 619319

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: celsr1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: celsr1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: CELSR1 was added gene: CELSR1 was added to Lymphoedema. Sources: Literature Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CELSR1 were set to 31215153 Phenotypes for gene: CELSR1 were set to lymphoedema Penetrance for gene: CELSR1 were set to Incomplete Review for gene: CELSR1 was set to GREEN