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  2. Anophthalmia_Microphthalmia_Coloboma
  3. FBXW11
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Anophthalmia_Microphthalmia_Coloboma

Gene: FBXW11

Green List (high evidence)
FBXW11 (F-box and WD repeat domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000072803
EnsemblGeneIds (GRCh37): ENSG00000072803
OMIM: 605651, Gene2Phenotype
FBXW11 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914

Created: 17 Jun 2020, 1:07 a.m.
Last Modified: 17 Jun 2020, 1:07 a.m.
Panel version: 0.58

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in >unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Created: 29 Jan 2020, 5:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual disability; developmental eye anomalies; digital anomalies

Publications

Created: 29 Jan 2020, 5:12 a.m.

Panel version: 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914
  • Intellectual disability
  • developmental eye anomalies
  • digital anomalies
OMIM
605651
Clinvar variants
Variants in FBXW11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: fbxw11 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: fbxw11 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: fbxw11 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: fbxw11 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: FBXW11 was added gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW11 were set to PMID: 31402090 Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies Review for gene: FBXW11 was set to GREEN