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Mendeliome

Gene: MDM2

Red List (low evidence)

MDM2 (MDM2 proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000135679
EnsemblGeneIds (GRCh37): ENSG00000135679
OMIM: 164785, Gene2Phenotype
MDM2 is in 2 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

I don't know

Besides PMID:28846075, I couldn't find further reports about germline MDM2 variants in Mendelian diseases.
Created: 22 Apr 2021, 1:15 a.m. | Last Modified: 22 Apr 2021, 1:15 a.m.
Panel Version: 0.7254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Lessel-Kubisch syndrome (MIM#618681)

Publications

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Single report of an individual with with short stature, premature aging, scleroderma-like skin, and renal failure-associated hypertensio, "homozygous antitermination mutation in the MDM2 gene (X498Qext5)".

OMIM: MDM2 PROTOONCOGENE
Created: 20 Apr 2020, 12:18 p.m. | Last Modified: 20 Apr 2020, 12:18 p.m.
Panel Version: 0.2485

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Lessel-Kubisch syndrome 618681

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Lessel-Kubisch syndrome, MIM# 618681
OMIM
164785
Clinvar variants
Variants in MDM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdm2 has been classified as Red List (Low Evidence).

22 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MDM2 were changed from to Lessel-Kubisch syndrome, MIM# 618681

22 Apr 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MDM2 were set to

22 Apr 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MDM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdm2 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: MDM2 was added gene: MDM2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MDM2 was set to Unknown