LYST

lysosomal trafficking regulator
OMIM: 606897, Gene2Phenotype

25 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 25 panels
Green LYST in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes oculo-cutaneous albinism Chediak-Higashi syndrome optic neuropathy with progressive vision loss
Green LYST in Ocular and oculo-cutaneous albinism Version 1.23	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes oculo-cutaneous albinism Chediak-Higashi syndrome optic neuropathy with progressive vision loss
Green LYST in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Parkinsonism albinism peripheral neuropathy Chediak-Higashi syndrome 214500
Green LYST in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Chediak-Higashi syndrome 214500 Chediak Higashi syndrome Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction Diseases of Immune Dysregulation
Green LYST in Vici Syndrome and other autophagy disorders Level 3: Autophagy disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.2	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes chediak-higashi syndrome
Green LYST in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Chediak-Higashi syndrome CHEDIAK-HIGASHI SYNDROME CHS
Amber LYST in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber
Green LYST in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Chediak-Higashi syndrome (CHS)
Green LYST in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chediak-Higashi syndrome oculo-cutaneous albinism optic neuropathy with progressive vision loss
Green LYST in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Chediak-Higashi syndrome 214500 Chediak Higashi syndrome Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction Diseases of Immune Dysregulation Tags age-specific-variation
Amber LYST in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes spastic paraplegia Chediak-Higashi syndrome, 214500
Red LYST in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Red Literature Phenotypes Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome lacking features of ocular albinism
Amber LYST in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Amber NHS GMS London North GLH Literature Phenotypes spastic paraplegia Chediak-Higashi syndrome, 214500
Green LYST in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 214500 Chediak-Higashi syndrome
Red LYST in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert review Red NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Chediak-Higashi syndrome, 214500
Amber LYST in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes spastic paraplegia Chediak-Higashi syndrome, 214500 Spastic paraplegia
Green LYST in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Chediak-Higashi syndrome, OMIM:214500 peripheral neuropathy Parkinsonism spastic paraplegia
Green LYST in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CHEDIAK-HIGASHI SYNDROME
Green LYST in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHEDIAK-HIGASHI SYNDROME 214500
Green LYST in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Chediak-Higashi syndrome, 214500 Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Amber LYST in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert list Phenotypes Chediak-Higashi syndrome 214500
Red LYST in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Chediak-Higashi syndrome, 214500
Green LYST in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Chediak-Higashi syndrome, OMIM:214500
Amber LYST in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Chediak-Higashi syndrome, 214500 Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Green LYST in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Chediak-Higashi syndrome, 214500

LYST

25 panels

Green LYST in Infantile nystagmus

Sources

Phenotypes

Green LYST in Ocular and oculo-cutaneous albinism

Sources

Phenotypes

Green LYST in Parkinson Disease and Complex Parkinsonism

Sources

Phenotypes

Green LYST in COVID-19 research

Sources

Phenotypes

Green LYST in Vici Syndrome and other autophagy disorders

Sources

Phenotypes

Green LYST in Pigmentary skin disorders

Sources

Phenotypes

Amber LYST in Rare genetic inflammatory skin disorders

Sources

Green LYST in Inherited bleeding disorders

Sources

Phenotypes

Green LYST in Albinism or congenital nystagmus

Sources

Phenotypes

Green LYST in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Tags

Amber LYST in Hereditary spastic paraplegia

Sources

Phenotypes

Red LYST in Optic neuropathy

Sources

Phenotypes

Amber LYST in Childhood onset hereditary spastic paraplegia

Sources

Phenotypes

Green LYST in Bleeding and platelet disorders

Sources

Phenotypes

Red LYST in Cytopenia - NOT Fanconi anaemia

Sources

Phenotypes

Amber LYST in Adult onset hereditary spastic paraplegia

Sources

Phenotypes

Green LYST in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green LYST in Fetal anomalies

Sources

Phenotypes

Green LYST in DDG2P

Sources

Phenotypes

Green LYST in Hereditary neuropathy

Sources

Phenotypes

Amber LYST in Early onset or syndromic epilepsy

Sources

Phenotypes

Red LYST in Intellectual disability - microarray and sequencing

Sources

Phenotypes

Green LYST in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Amber LYST in Hereditary neuropathy or pain disorder

Sources

Phenotypes

Green LYST in Severe Paediatric Disorders

Sources

Phenotypes