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Albinism or congenital nystagmus v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2025-04-30
Albinism or congenital nystagmus v4.0 Arina Puzriakova promoted panel to version 4.0
Albinism or congenital nystagmus v3.11 TYR Arina Puzriakova Tag Q4_22_MOI was removed from gene: TYR.
Albinism or congenital nystagmus v3.11 CNGB3 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: CNGB3.
Albinism or congenital nystagmus v3.11 CLDN11 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CLDN11.
Albinism or congenital nystagmus v3.11 TYR Arina Puzriakova edited their review of gene: TYR: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v3.11 CNGB3 Arina Puzriakova commented on gene: CNGB3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v3.11 CLDN11 Arina Puzriakova reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Albinism or congenital nystagmus v3.10 TYR Arina Puzriakova Source NHS GMS was added to TYR.
Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v3.10 CNGB3 Arina Puzriakova Source NHS GMS was added to CNGB3.
Source Expert Review Green was added to CNGB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v3.10 CLDN11 Arina Puzriakova Source NHS GMS was added to CLDN11.
Source Expert Review Green was added to CLDN11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v3.9 DCT Sarah Leigh Publications for gene: DCT were set to 33100333
Albinism or congenital nystagmus v3.8 DCT Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v3.8 DCT Sarah Leigh Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899
Albinism or congenital nystagmus v3.7 AHR Sarah Leigh Publications for gene: AHR were set to 28851966; 31009037; 23301081
Albinism or congenital nystagmus v3.6 AHR Sarah Leigh reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v3.6 AHR Sarah Leigh Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to ?Retinitis pigmentosa 85, OMIM:618345; retinitis pigmentosa 85, MONDO:0032689
Albinism or congenital nystagmus v3.5 ROBO1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (?Nystagmus 8, congenital, autosomal recessive, OMIM:257400). OMIM have only listed the publications already considered (PMID: 35348658) and therefore there is no new evidence to warrant further review.
Albinism or congenital nystagmus v3.5 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from nystagmus, congenital, autosomal recessive, MONDO:0009762 to ?Nystagmus 8, congenital, autosomal recessive, OMIM:257400
Albinism or congenital nystagmus v3.4 CLDN11 Achchuthan Shanmugasundram changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes nystagmus as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.

This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes nystagmus as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature
Albinism or congenital nystagmus v3.4 CLDN11 Achchuthan Shanmugasundram changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes nystagmus as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature
Albinism or congenital nystagmus v3.4 CLDN11 Achchuthan Shanmugasundram Entity copied from Childhood onset hereditary spastic paraplegia v4.34
Albinism or congenital nystagmus v3.4 CLDN11 Achchuthan Shanmugasundram gene: CLDN11 was added
gene: CLDN11 was added to Albinism or congenital nystagmus. Sources: Literature,Expert Review Amber
Q4_23_promote_green tags were added to gene: CLDN11.
Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN11 were set to 33313762
Phenotypes for gene: CLDN11 were set to Leukodystrophy, hypomyelinating, 22, OMIM:619328
Albinism or congenital nystagmus v3.1 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Albinism or congenital nystagmus v3.1 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2.
Albinism or congenital nystagmus v3.1 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Albinism or congenital nystagmus v3.1 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Albinism or congenital nystagmus v3.1 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Albinism or congenital nystagmus v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Albinism or congenital nystagmus v3.1 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v3.1 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Albinism or congenital nystagmus v3.1 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Albinism or congenital nystagmus v3.1 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Albinism or congenital nystagmus v3.1 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Albinism or congenital nystagmus v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Albinism or congenital nystagmus v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Albinism or congenital nystagmus v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Albinism or congenital nystagmus v2.4 ROBO1 Achchuthan Shanmugasundram gene: ROBO1 was added
gene: ROBO1 was added to Albinism or congenital nystagmus. Sources: Literature
Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to 35348658
Phenotypes for gene: ROBO1 were set to nystagmus, congenital, autosomal recessive, MONDO:0009762
Review for gene: ROBO1 was set to RED
Added comment: Comment on classification of gene: This gene should be rated RED as this gene has been associated with nystagmus from only one family.

PMID:35348658 reported three male siblings from the same family with nystagmus and they were identified with a homozygous missense variant p.Ser1522Leu.

This gene has not yet been associated with any phenotypes either in OMIM or Gene2Phenotype.
Sources: Literature
Albinism or congenital nystagmus v2.3 SETX Sarah Leigh Tag Q2_22_MOI was removed from gene: SETX.
Albinism or congenital nystagmus v2.3 SETX Sarah Leigh commented on gene: SETX: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v2.2 SETX Sarah Leigh Source NHS GMS was added to SETX.
Mode of inheritance for gene SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Albinism or congenital nystagmus v2.0 Arina Puzriakova promoted panel to version 2.0
Albinism or congenital nystagmus v1.27 CNGB3 Arina Puzriakova Classified gene: CNGB3 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.27 CNGB3 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update (sufficient number of cases, already green on other panels, phenotypic relevance confirmed by clinician).
Albinism or congenital nystagmus v1.27 CNGB3 Arina Puzriakova Gene: cngb3 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.26 CNGB3 Arina Puzriakova gene: CNGB3 was added
gene: CNGB3 was added to Albinism or congenital nystagmus. Sources: Expert Review
Q4_22_promote_green tags were added to gene: CNGB3.
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGB3 were set to 10888875; 10958649; 35332618
Phenotypes for gene: CNGB3 were set to Achromatopsia 3, OMIM:262300
Review for gene: CNGB3 was set to GREEN
Added comment: Added to this panel following suggestion from Dr Helen Brittain (Genomics England Clinical Team) who highlighted a patient who would have benefitted from inclusion of CNGB3 on R39 Albinism or congenital nystagmus. Biallelic variants cause achromatopsia, featuring total colour blindness, photophobia, reduced visual acuity and nystagmus.
Sources: Expert Review
Albinism or congenital nystagmus v1.25 TYR Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.

Biallelic variants are associated with oculocutaneous albinism. Many cases have been reported in literature (ClinGen Definitive gene-disease classification) and therefore this is appropriate for inclusion on this panel.

SNPs in TYR have been found to influence hair, eye and skin pigmentation and some studies have demonstrated an increased susceptibility to cutaneous melanoma due to certain sequence variants. There is some evidence suggesting ocular albinism may result from digenic inheritance of a TYR SNP (R402Q) alongside a heterozygous variant in the MITF gene. However, neither of these scenarios are within the remit of this panel and therefore should not be included.
Albinism or congenital nystagmus v1.25 TYR Arina Puzriakova Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Albinism or congenital nystagmus v1.24 TYR Arina Puzriakova Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
Albinism or congenital nystagmus v1.23 TYR Arina Puzriakova Tag Q4_22_MOI tag was added to gene: TYR.
Albinism or congenital nystagmus v1.23 SETX Sarah Leigh changed review comment from: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is relevant phenotype for this panel.; to: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is the relevant phenotype for this panel.
Albinism or congenital nystagmus v1.23 SETX Sarah Leigh edited their review of gene: SETX: Added comment: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is relevant phenotype for this panel.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v1.23 SETX Sarah Leigh Tag Q2_22_MOI tag was added to gene: SETX.
Albinism or congenital nystagmus v1.23 SETX Sarah Leigh Added comment: Comment on phenotypes: SETX are also associated with Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433, but this phenotype is not relevant to the Albinism or congenital nystagmus panel
Albinism or congenital nystagmus v1.23 SETX Sarah Leigh Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
Albinism or congenital nystagmus v1.22 LAMA1 Ivone Leong Tag for-review was removed from gene: LAMA1.
Albinism or congenital nystagmus v1.22 BLOC1S6 Ivone Leong Tag for-review was removed from gene: BLOC1S6.
Albinism or congenital nystagmus v1.22 BLOC1S3 Ivone Leong Tag for-review was removed from gene: BLOC1S3.
Albinism or congenital nystagmus v1.22 DCT Ivone Leong Tag for-review was removed from gene: DCT.
Albinism or congenital nystagmus v1.22 BLOC1S5 Ivone Leong Tag for-review was removed from gene: BLOC1S5.
Albinism or congenital nystagmus v1.22 LAMA1 Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 BLOC1S6 Ivone Leong commented on gene: BLOC1S6
Albinism or congenital nystagmus v1.22 BLOC1S3 Ivone Leong commented on gene: BLOC1S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 DCT Ivone Leong commented on gene: DCT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 BLOC1S5 Ivone Leong commented on gene: BLOC1S5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.21 LAMA1 Ivone Leong Source Expert Review Green was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S6 Ivone Leong Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S3 Ivone Leong Source Expert Review Green was added to BLOC1S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 DCT Ivone Leong Source Expert Review Green was added to DCT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S5 Ivone Leong Source Expert Review Green was added to BLOC1S5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.20 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from CACNA1A-Related Episodic Ataxia Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated to Episodic ataxia, type 2, OMIM:108500
Albinism or congenital nystagmus v1.19 CLCN7 Arina Puzriakova Classified gene: CLCN7 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.19 CLCN7 Arina Puzriakova Added comment: Comment on list classification: Rating Amber as two individuals have been reported and with the same variant. Although there is some functional support, an additional independent case would help corroborate this association and indicate whether this is a variant specific phenotype. Different heterozygous CLCN7 variants have been linked to AD osteopetrosis.
Albinism or congenital nystagmus v1.19 CLCN7 Arina Puzriakova Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.18 CLCN7 Arina Puzriakova gene: CLCN7 was added
gene: CLCN7 was added to Albinism or congenital nystagmus. Sources: Literature
watchlist tags were added to gene: CLCN7.
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLCN7 was set to AMBER
Added comment: Nicoli et al., 2019 (PMID: 31155284) reported on two unrelated individuals from different ethnic backgrounds with the same de novo gain-of-function missense variant (c.2144A>G, p.Tyr715Cys) in the CLCN7 gene. Both children had generalised cutaneous hypopigmentation without ocular involvement, delayed myelination and motor development, and organomegaly. Biopsies showed that both probands had cytoplasmic inclusions, characteristic of those seen in lysosomal-storage disorders. Human phenotypes were recapitulated by a mouse model harbouring the knock-in Clcn7 variant.

This gene-disease relationship is listed in OMIM (MIM# 618541) but is not yet in G2P.
Sources: Literature
Albinism or congenital nystagmus v1.17 DCT Ivone Leong Classified gene: DCT as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.17 DCT Ivone Leong Added comment: Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 33100333 describes 2 unrelated patients with variants in DCT. Both patients had mild hair and skin hypopigmentation, and classical ocular features. The paper also describes a mouse model and zebrafish model which replicate the human phenotype.

There is enough evidence to support a gene-disease associaton. Therefore, this gene should be promoted to Green status at the next review.
Albinism or congenital nystagmus v1.17 DCT Ivone Leong Gene: dct has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.16 DCT Ivone Leong Tag for-review tag was added to gene: DCT.
Albinism or congenital nystagmus v1.16 DCT Ivone Leong Publications for gene: DCT were set to PMID 33100333
Albinism or congenital nystagmus v1.15 BLOC1S3 Ivone Leong reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v1.15 BLOC1S3 Ivone Leong Publications for gene: BLOC1S3 were set to
Albinism or congenital nystagmus v1.14 BLOC1S3 Ivone Leong Tag for-review tag was added to gene: BLOC1S3.
Albinism or congenital nystagmus v1.14 BLOC1S3 Ivone Leong Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8 614077 AR to Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Albinism or congenital nystagmus v1.13 BLOC1S5 Ivone Leong Classified gene: BLOC1S5 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.13 BLOC1S5 Ivone Leong Added comment: Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 32565547 describes 2 unrelated cases of patients with homozygous variants in BLOC1S5. Patients had mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules. The paper also includes a mouse model.

Based on the available information there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Albinism or congenital nystagmus v1.13 BLOC1S5 Ivone Leong Gene: bloc1s5 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.12 BLOC1S5 Ivone Leong Tag for-review tag was added to gene: BLOC1S5.
Albinism or congenital nystagmus v1.12 BLOC1S5 Ivone Leong Phenotypes for gene: BLOC1S5 were changed from Hermansky-Pudlak syndrome to Hermansky-Pudlak syndrome, MONDO:0019312
Albinism or congenital nystagmus v1.11 BLOC1S5 Ivone Leong Publications for gene: BLOC1S5 were set to PMID 32565547
Albinism or congenital nystagmus v1.10 BLOC1S5 Simon Ramsden gene: BLOC1S5 was added
gene: BLOC1S5 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to PMID 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky-Pudlak syndrome
Penetrance for gene: BLOC1S5 were set to Complete
Review for gene: BLOC1S5 was set to GREEN
Added comment: This is a newly described gen association and should be considered for inclusion in the Albinism panel
Sources: NHS GMS
Albinism or congenital nystagmus v1.10 DCT Simon Ramsden gene: DCT was added
gene: DCT was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to PMID 33100333
Phenotypes for gene: DCT were set to Ocutaneous albinism
Penetrance for gene: DCT were set to Complete
Review for gene: DCT was set to GREEN
Added comment: This is a newly described gene that should be considered for inclusion in the Albinism panel
Sources: NHS GMS
Albinism or congenital nystagmus v1.10 LAMA1 Ivone Leong Classified gene: LAMA1 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.10 LAMA1 Ivone Leong Gene: lama1 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.9 LAMA1 Ivone Leong gene: LAMA1 was added
gene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Literature
for-review tags were added to gene: LAMA1.
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 25105227; 28283601; 33251915; 29167897; 328840387; 32195884
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960
Review for gene: LAMA1 was set to AMBER
Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of this affected gene in patients who have an eye phenotype, 6 out of 11 cases have nystagmus. There is enough evidence to support a gene-disease association and this gene should be considered for Green status at the next review.
Sources: Literature
Albinism or congenital nystagmus v1.8 SLC38A8 Eleanor Williams Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR to 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
Albinism or congenital nystagmus v1.7 SLC38A8 Eleanor Williams Publications for gene: SLC38A8 were set to 24290379; 29345414; 24045842
Albinism or congenital nystagmus v1.6 SLC38A8 Eleanor Williams reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v1.6 BLOC1S6 Arina Puzriakova Classified gene: BLOC1S6 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.6 BLOC1S6 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Albinism or congenital nystagmus v1.6 BLOC1S6 Arina Puzriakova Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.5 BLOC1S6 Eleanor Williams Classified gene: BLOC1S6 as Green List (high evidence)
Albinism or congenital nystagmus v1.5 BLOC1S6 Eleanor Williams Added comment: Comment on list classification: Promoting from amber to red, as there are now 3 cases reported.
Albinism or congenital nystagmus v1.5 BLOC1S6 Eleanor Williams Gene: bloc1s6 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v1.4 BLOC1S6 Eleanor Williams Tag for-review tag was added to gene: BLOC1S6.
Albinism or congenital nystagmus v1.4 BLOC1S6 Eleanor Williams commented on gene: BLOC1S6
Albinism or congenital nystagmus v1.3 Catherine Snow Panel version has been signed off
Albinism or congenital nystagmus v1.2 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Albinism or congenital nystagmus v1.0 Ivone Leong promoted panel to version 1.0
Albinism or congenital nystagmus v0.21 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Albinism or congenital nystagmus v0.20 Ivone Leong List of related panels changed from to R39
Albinism or congenital nystagmus v0.19 AHR Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28851966, 31009037, 23301081; Phenotypes: Foveal hypoplasia without albinism, Infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.19 AHR Ivone Leong gene: AHR was added
gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 28851966; 31009037; 23301081
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus
Albinism or congenital nystagmus v0.17 TULP1 Jonathan Callaway reviewed gene: TULP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15 613843 AR, Retinitis pigmentosa 14 600132 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MYO5A Jonathan Callaway reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 1 214450 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MLPH Jonathan Callaway reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3 609227 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MANBA Jonathan Callaway reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 DTNBP1 Jonathan Callaway reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 7 614076 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 BLOC1S6 Jonathan Callaway reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-pudlak syndrome 9 614171 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 BLOC1S3 Jonathan Callaway reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 8 614077 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 AP3D1 Jonathan Callaway reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-Pudlak syndrome 10 617050 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 SLC38A8 Jonathan Callaway reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: Poulter el al. 2013 (PMID 24290379), Perez et al. 2014 (PMID 24045842) and Lasseaux et al. 2018 (PMID 29345414).; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.16 TULP1 Ivone Leong Source Expert Review Amber was added to TULP1.
Added phenotypes Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR for gene: TULP1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MYO5A Ivone Leong Source Expert Review Amber was added to MYO5A.
Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MLPH Ivone Leong Source Expert Review Amber was added to MLPH.
Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MANBA Ivone Leong Source Expert Review Amber was added to MANBA.
Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 DTNBP1 Ivone Leong Source Expert Review Amber was added to DTNBP1.
Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 BLOC1S6 Ivone Leong Source Expert Review Amber was added to BLOC1S6.
Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 BLOC1S3 Ivone Leong Source Expert Review Amber was added to BLOC1S3.
Added phenotypes Hermansky-Pudlak syndrome 8 614077 AR for gene: BLOC1S3
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 AP3D1 Ivone Leong Source Expert Review Amber was added to AP3D1.
Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 SLC38A8 Ivone Leong Source Expert Review Green was added to SLC38A8.
Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR for gene: SLC38A8
Rating Changed from Red List (low evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.15 TULP1 Ivone Leong gene: TULP1 was added
gene: TULP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR
Albinism or congenital nystagmus v0.15 MYO5A Ivone Leong gene: MYO5A was added
gene: MYO5A was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR
Albinism or congenital nystagmus v0.15 MLPH Ivone Leong gene: MLPH was added
gene: MLPH was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR
Albinism or congenital nystagmus v0.15 MANBA Ivone Leong gene: MANBA was added
gene: MANBA was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR
Albinism or congenital nystagmus v0.15 DTNBP1 Ivone Leong gene: DTNBP1 was added
gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR
Albinism or congenital nystagmus v0.15 BLOC1S6 Ivone Leong gene: BLOC1S6 was added
gene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR
Albinism or congenital nystagmus v0.15 BLOC1S3 Ivone Leong gene: BLOC1S3 was added
gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8 614077 AR
Albinism or congenital nystagmus v0.15 AP3D1 Ivone Leong gene: AP3D1 was added
gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR
Albinism or congenital nystagmus v0.15 SLC38A8 Ivone Leong gene: SLC38A8 was added
gene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 24290379; 29345414; 24045842
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR
Albinism or congenital nystagmus v0.14 SETX Ivone Leong Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 SACS Ivone Leong Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 RAB27A Ivone Leong Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 PAX6 Ivone Leong Added phenotypes Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD for gene: PAX6
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 HPS6 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 CASK Ivone Leong Added phenotypes Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 for gene: CASK
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 CACNA1F Ivone Leong Added 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 for gene: CACNA1F
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 AP3B1 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.13 PAX6 Jay Self reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v0.13 CACNA1A Jay Self reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v0.13 SETX Ivone Leong Classified gene: SETX as Green List (high evidence)
Albinism or congenital nystagmus v0.13 SETX Ivone Leong Gene: setx has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.12 SACS Ivone Leong Classified gene: SACS as Green List (high evidence)
Albinism or congenital nystagmus v0.12 SACS Ivone Leong Gene: sacs has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.11 RAB27A Ivone Leong Classified gene: RAB27A as Green List (high evidence)
Albinism or congenital nystagmus v0.11 RAB27A Ivone Leong Gene: rab27a has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.10 PAX6 Ivone Leong Classified gene: PAX6 as Green List (high evidence)
Albinism or congenital nystagmus v0.10 PAX6 Ivone Leong Gene: pax6 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.9 HPS6 Ivone Leong Classified gene: HPS6 as Green List (high evidence)
Albinism or congenital nystagmus v0.9 HPS6 Ivone Leong Gene: hps6 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.8 CASK Ivone Leong Classified gene: CASK as Green List (high evidence)
Albinism or congenital nystagmus v0.8 CASK Ivone Leong Gene: cask has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.7 CACNA1F Ivone Leong Classified gene: CACNA1F as Green List (high evidence)
Albinism or congenital nystagmus v0.7 CACNA1F Ivone Leong Gene: cacna1f has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.6 AP3B1 Ivone Leong Classified gene: AP3B1 as Green List (high evidence)
Albinism or congenital nystagmus v0.6 AP3B1 Ivone Leong Gene: ap3b1 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.5 SETX Ivone Leong reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433 AD, Spinocerebellar ataxia, autosomal recessive 1 606002 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 SACS Ivone Leong reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type 270550 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 RAB27A Ivone Leong reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 2 607624 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Coloboma of optic nerve 120430 AD, ?Coloboma, ocular 120200 AD, ?Morning glory disc anomaly 120430 AD, Aniridia 106210 AD, Anterior segment dysgenesis 5, multiple subtypes 604229, Cataract with late-onset corneal dystrophy 106210 AD, Foveal hypoplasia 1 136520 AD, Keratitis 148190 AD, Optic nerve hypoplasia 165550 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Albinism or congenital nystagmus v0.5 HPS6 Ivone Leong reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 6 614075 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 CASK Ivone Leong reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD, Mental retardation, with or without nystagmus 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Albinism or congenital nystagmus v0.5 CACNA1F Ivone Leong reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aland Island eye disease 300600 XL, Cone-rod dystrophy, X-linked, 3 300476 XLR, Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Albinism or congenital nystagmus v0.5 AP3B1 Ivone Leong reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2 608233 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.4 SETX Ivone Leong gene: SETX was added
gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR
Albinism or congenital nystagmus v0.4 SACS Ivone Leong gene: SACS was added
gene: SACS was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR
Albinism or congenital nystagmus v0.4 RAB27A Ivone Leong gene: RAB27A was added
gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR
Albinism or congenital nystagmus v0.4 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD
Albinism or congenital nystagmus v0.4 HPS6 Ivone Leong gene: HPS6 was added
gene: HPS6 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6 614075 AR
Albinism or congenital nystagmus v0.4 CASK Ivone Leong gene: CASK was added
gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422
Albinism or congenital nystagmus v0.4 CACNA1F Ivone Leong gene: CACNA1F was added
gene: CACNA1F was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL
Albinism or congenital nystagmus v0.4 AP3B1 Ivone Leong gene: AP3B1 was added
gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR
Albinism or congenital nystagmus v0.2 TYRP1 Ellen McDonagh gene: TYRP1 was added
gene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 TYR Ellen McDonagh gene: TYR was added
gene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 SLC45A2 Ellen McDonagh gene: SLC45A2 was added
gene: SLC45A2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 SLC24A5 Ellen McDonagh gene: SLC24A5 was added
gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A5 were set to 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 27129268 - functional data to support the phenotypic effects of variants reported; 23364476 - case report of patient of Chinese origin; 26686029 case identified in a cohort South-Italian origin
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI; Non-Syndromic Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 OCA2 Ellen McDonagh gene: OCA2 was added
gene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to 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
Albinism or congenital nystagmus v0.2 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 26448634
Phenotypes for gene: MT-ND6 were set to Nystagmus
Albinism or congenital nystagmus v0.2 MT-ND2 Ellen McDonagh gene: MT-ND2 was added
gene: MT-ND2 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Publications for gene: MT-ND2 were set to 26448634
Phenotypes for gene: MT-ND2 were set to Retinal degeneration and nystagmus
Albinism or congenital nystagmus v0.2 MT-CYB Ellen McDonagh gene: MT-CYB was added
gene: MT-CYB was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Publications for gene: MT-CYB were set to 26448634
Phenotypes for gene: MT-CYB were set to Nystagmus
Albinism or congenital nystagmus v0.2 MT-CO3 Ellen McDonagh gene: MT-CO3 was added
gene: MT-CO3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 26448634
Phenotypes for gene: MT-CO3 were set to Nystagmus
Albinism or congenital nystagmus v0.2 MT-CO1 Ellen McDonagh gene: MT-CO1 was added
gene: MT-CO1 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 26448634
Phenotypes for gene: MT-CO1 were set to Nystagmus; Optic neuropathy
Albinism or congenital nystagmus v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 26448634
Phenotypes for gene: MT-ATP6 were set to Retinal degeneration and nystagmus; Optic neuropathy and nystagmus; Nystagmus
Albinism or congenital nystagmus v0.2 MITF Ellen McDonagh gene: MITF was added
gene: MITF was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MITF were set to Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470; Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
Albinism or congenital nystagmus v0.2 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 8896560; 9215679; 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 10482950
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome; oculo-cutaneous albinism; optic neuropathy with progressive vision loss
Albinism or congenital nystagmus v0.2 LRMDA Ellen McDonagh gene: LRMDA was added
gene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII
Albinism or congenital nystagmus v0.2 HPS5 Ellen McDonagh gene: HPS5 was added
gene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS5 were set to 18182080; 28296950; 12548288; 27593200; 26785811
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Albinism or congenital nystagmus v0.2 HPS4 Ellen McDonagh gene: HPS4 was added
gene: HPS4 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS4 were set to 11836498; 15108212
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Albinism or congenital nystagmus v0.2 HPS3 Ellen McDonagh gene: HPS3 was added
gene: HPS3 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS3 were set to 11455388; 11590544
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Albinism or congenital nystagmus v0.2 HPS1 Ellen McDonagh gene: HPS1 was added
gene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Albinism or congenital nystagmus v0.2 GPR143 Ellen McDonagh gene: GPR143 was added
gene: GPR143 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GPR143 were set to 26160353; 21423867; 26061757; 21541274
Phenotypes for gene: GPR143 were set to Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I; Ocular albinism, type I, Nettleship-Falls type, 300500
Albinism or congenital nystagmus v0.2 GNAI3 Ellen McDonagh gene: GNAI3 was added
gene: GNAI3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene: GNAI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNAI3 were set to 27607449
Phenotypes for gene: GNAI3 were set to Auriculocondylar syndrome 1 602483; Ocular Albinism
Albinism or congenital nystagmus v0.2 FRMD7 Ellen McDonagh gene: FRMD7 was added
gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FRMD7 were set to 24688117; 17013395; 21303855; 17397053; 18431453; 17846367
Phenotypes for gene: FRMD7 were set to 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)
Albinism or congenital nystagmus v0.2 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 12210798; 12205643
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3
Albinism or congenital nystagmus v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 19182766
Phenotypes for gene: CACNA1A were set to CACNA1A-Related Episodic Ataxia Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
Albinism or congenital nystagmus v0.0 Ellen McDonagh Added Panel Albinism or congenital nystagmus
Set panel types to: GMS Rare Disease