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'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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)


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/511/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (05/08/2019).

This panel will continue to be curated. 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 for the GMS panels.

3 reviewers

  • Jay Self (University of Southampton)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jonathan Callaway (Wessex Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

41 Entities

19 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
41 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)
CACNA1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CACNA1A-Related Episodic Ataxia Type 2
  • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
  • Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
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)
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)
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
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 4, juvenile 602433 AD
  • Spinocerebellar ataxia, autosomal recessive 1 606002 AR
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
1 review
1 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 609218 AR
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
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type IA
  • Waardenburg syndrome/albinism, digenic
  • Albinism, oculocutaneous, type IB
  • Oculocutaneous Albinism
Tags
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)
BLOC1S3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome 8 614077 AR
Tags
Amber Amber List (moderate evidence)
BLOC1S6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Hermansky-pudlak syndrome 9 614171 AR
Tags
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

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