1. Panels
  2. BabyScreen+ newborn screening
  3. NOTCH2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: NOTCH2

Red List (low evidence)
NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)

Created: 6 Oct 2022, 2:50 a.m.
Last Modified: 6 Oct 2022, 2:50 a.m.
Panel version: 0.446

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies

Severity: moderate to severe

Age of onset: birth

Non-molecular confirmatory testing:

Treatment: symptomatic only therefore exclude
Created: 5 Oct 2022, 12:55 a.m. | Last Modified: 5 Oct 2022, 12:55 a.m.
Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hajdu-Cheney syndrome

Created: 5 Oct 2022, 12:55 a.m.
Last Modified: 5 Oct 2022, 12:55 a.m.
Panel version: 0.274

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: notch2 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOTCH2 were changed from Hajdu-Cheney syndrome to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: notch2 has been classified as Red List (Low Evidence).

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: NOTCH2 was added gene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome