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DDG2P

Gene: LYST

Green List (high evidence)

LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 25 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CHEDIAK-HIGASHI SYNDROME, OMIM:214500 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 9215680;11857544;8751864;10482950;8751863;8896560;9215679).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHEDIAK-HIGASHI SYNDROME, OMIM:214500

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: LYST were updated from 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 to 9215680; 11857544; 8896560; 8751863; 10482950; 9215679; 8751864

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: LYST was added gene: LYST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME 214500