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Intellectual disability syndromic and non-syndromic

Gene: LYST

Amber List (moderate evidence)

LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true ID including in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Created: 9 Feb 2020, 9:06 a.m. | Last Modified: 9 Feb 2020, 9:07 a.m.
Panel Version: 0.2080
ID is part of the phenotype.
Created: 6 Dec 2019, 3:13 a.m. | Last Modified: 6 Dec 2019, 3:13 a.m.
Panel Version: 0.600

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chediak-Higashi syndrome, MIM#214500

History Filter Activity

9 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lyst has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500

6 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LYST was added gene: LYST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LYST was set to Unknown