Albinism or congenital nystagmus (Version 3.5)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R39 Albinism or congenital nystagmus' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R39 Albinism or congenital nystagmus'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This gene list was originally created using genes and their overall ratings from the following gene panels:
- Infantile nystagmus (version 1.2, code 246)
- Ocular and oculo-cutaneous albinism (version 1.20, code 128)

Panel Activity

8 reviewers

Simon Ramsden (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Jay Self (University of Southampton)

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Jonathan Callaway (Wessex Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

48 Entities

27 reviewed, 28 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 48 Entitiess
Green Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2 608233 AR Tags
Green Green List (high evidence)	BLOC1S3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560 Tags
Green Green List (high evidence)	BLOC1S5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hermansky-Pudlak syndrome, MONDO:0019312 Tags
Green Green List (high evidence)	BLOC1S6	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Hermansky-pudlak syndrome 9 614171 AR Tags
Green Green List (high evidence)	CACNA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Episodic ataxia, type 2, OMIM:108500 Tags
Green Green List (high evidence)	CACNA1F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL Cone-rod dystrophy, X-linked, 3 300476 XLR Aland Island eye disease 300600 XL Tags
Green Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mental retardation, with or without nystagmus 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD FG syndrome 4 300422 Tags
Green Green List (high evidence)	DCT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ocutaneous albinism Tags
Green Green List (high evidence)	FRMD7	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Nystagmus 1, Congenital, X-Linked Infantile Nystagmus Nystagmus, infantile periodic alternating, X-linked, 310700 Nystagmus 1, congenital, X-linked, 310700 (not relevant if inheritance through paternal line) Tags
Green Green List (high evidence)	GPR143	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Nystagmus 6, congenital, X-linked, 300814 Ocular albinism, type I Ocular albinism, type I, Nettleship-Falls type, 300500 Tags
Green Green List (high evidence)	HPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 1 Tags
Green Green List (high evidence)	HPS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 3 Tags
Green Green List (high evidence)	HPS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 4 Tags
Green Green List (high evidence)	HPS5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 5 Tags
Green Green List (high evidence)	HPS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hermansky-Pudlak syndrome 6 614075 AR Tags
Green Green List (high evidence)	LAMA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Poretti-Boltshauser syndrome, OMIM:615960 Tags
Green Green List (high evidence)	LRMDA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Albinism, oculocutaneous, type VII Tags
Green Green List (high evidence)	LYST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chediak-Higashi syndrome oculo-cutaneous albinism optic neuropathy with progressive vision loss Tags
Green Green List (high evidence)	OCA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Skin/hair/eye pigmentation 1, blue/nonblue eyes Albinism, brown oculocutaneous Albinism, oculocutaneous, type II Skin/hair/eye pigmentation 1, blond/brown hair Oculocutaneous Albinism Tags
Green Green List (high evidence)	PAX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes ?Coloboma of optic nerve 120430 AD Optic nerve hypoplasia 165550 AD Aniridia 106210 AD Cataract with late-onset corneal dystrophy 106210 AD ?Morning glory disc anomaly 120430 AD Anterior segment dysgenesis 5, multiple subtypes 604229 Keratitis 148190 AD Foveal hypoplasia 1 136520 AD ?Coloboma, ocular 120200 AD Tags
Green Green List (high evidence)	RAB27A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Griscelli syndrome, type 2 607624 AR Tags
Green Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR Tags
Green Green List (high evidence)	SETX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Tags
Green Green List (high evidence)	SLC24A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Albinism, oculocutaneous, type VI Non-Syndromic Oculocutaneous Albinism Tags
Green Green List (high evidence)	SLC38A8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Tags
Green Green List (high evidence)	SLC45A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Oculocutaneous albinism type IV,606574 skin/hair/eye pigmentation 5,227240 Albinism, oculocutaneous, type IV Oculocutaneous Albinism Tags
Green Green List (high evidence)	TYR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470 Tags Q4_22_MOI
Green Green List (high evidence)	TYRP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Albinism, oculocutaneous, type III Oculocutaneous Albinism Tags
Amber Amber List (moderate evidence)	AHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Retinitis pigmentosa 85, 618345 Foveal hypoplasia without albinism Infantile nystagmus Tags
Amber Amber List (moderate evidence)	AP3D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR Tags
Amber Amber List (moderate evidence)	CLCN7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist
Amber Amber List (moderate evidence)	CLDN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 22, OMIM:619328 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CNGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Achromatopsia 3, OMIM:262300 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	DTNBP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hermansky-Pudlak syndrome 7 614076 AR Tags
Amber Amber List (moderate evidence)	MANBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mannosidosis, beta 248510 AR Tags
Amber Amber List (moderate evidence)	MLPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Griscelli syndrome, type 3 609227 AR Tags
Amber Amber List (moderate evidence)	MYO5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Griscelli syndrome, type 1 214450 AR Tags
Amber Amber List (moderate evidence)	TULP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Leber congenital amaurosis 15 613843 AR Retinitis pigmentosa 14 600132 AR Tags
Red Red List (low evidence)	DGUOK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 3 Tags
Red Red List (low evidence)	GNAI3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Auriculocondylar syndrome 1 602483 Ocular Albinism Tags
Red Red List (low evidence)	MITF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A) Waardenburg syndrome/ocular albinism, digenic,103470 Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA) Tags
Red Red List (low evidence)	MT-ATP6	0 reviews	MITOCHONDRIAL	Sources Expert Review Red Phenotypes Retinal degeneration and nystagmus Optic neuropathy and nystagmus Nystagmus Tags
Red Red List (low evidence)	MT-CO1	0 reviews	MITOCHONDRIAL	Sources Expert Review Red Phenotypes Nystagmus Optic neuropathy Tags
Red Red List (low evidence)	MT-CO3	0 reviews	MITOCHONDRIAL	Sources Expert Review Red Phenotypes Nystagmus Tags
Red Red List (low evidence)	MT-CYB	0 reviews	MITOCHONDRIAL	Sources Expert Review Red Phenotypes Nystagmus Tags
Red Red List (low evidence)	MT-ND2	0 reviews	MITOCHONDRIAL	Sources Expert Review Red Phenotypes Retinal degeneration and nystagmus Tags
Red Red List (low evidence)	MT-ND6	0 reviews	MITOCHONDRIAL	Sources Expert Review Red Phenotypes Nystagmus Tags
Red Red List (low evidence)	ROBO1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Nystagmus 8, congenital, autosomal recessive, OMIM:257400 Tags

Major version comments

2023-03-22 15:28 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:34 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-08-05 09:16 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.18) was signed off under NHS Genomic Medicine Service governance on (05/08/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Albinism or congenital nystagmus (Version 3.5)

8 reviewers

48 Entities

27 reviewed, 28 green

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