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BabyScreen+ newborn screening

Gene: CUBN

Green List (high evidence)

CUBN (cubilin)
EnsemblGeneIds (GRCh38): ENSG00000107611
EnsemblGeneIds (GRCh37): ENSG00000107611
OMIM: 602997, Gene2Phenotype
CUBN is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Typical age of onset is <5 years.

Non-genetic confirmatory testing: vitamin B12 level
Created: 10 Oct 2022, 7:29 a.m. | Last Modified: 10 Oct 2022, 7:29 a.m.
Panel Version: 0.528

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Imerslund-Grasbeck syndrome 1 MIM#261100

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12
Created: 10 Oct 2022, 12:27 a.m. | Last Modified: 10 Oct 2022, 12:27 a.m.
Panel Version: 0.523
defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12
Created: 10 Oct 2022, 12:27 a.m. | Last Modified: 10 Oct 2022, 12:27 a.m.
Panel Version: 0.523

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
megaloblastic anaemia; sensorimotor neuropathy; failure to thrive; cognitive impairment

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Megaloblastic anaemia-1, Finnish type, MIM#261100
Tags
treatable haematological
OMIM
602997
Clinvar variants
Variants in CUBN
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag haematological tag was added to gene: CUBN.

10 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CUBN.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CUBN was added gene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100