Mosaic skin disorders - deep sequencing

Gene: NOD2

No list

NOD2 (nucleotide binding oligomerization domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000167207
EnsemblGeneIds (GRCh37): ENSG00000167207
OMIM: 605956, Gene2Phenotype
NOD2 is in 10 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Blau syndrome

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: NOD2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

History Filter Activity

10 Jan 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NOD2 were changed from Blau syndrome to Blau syndrome, OMIM:186580

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: NOD2.

5 Dec 2019, Gel status: 0

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Removed was added to NOD2. Rating Changed from Green List (high evidence) to No List (delete)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to NOD2.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NOD2 was added gene: NOD2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOD2 were set to Blau syndrome