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Infantile nystagmus v1.10 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Infantile nystagmus v1.10 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2.
Infantile nystagmus v1.10 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Infantile nystagmus v1.10 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Infantile nystagmus v1.10 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Infantile nystagmus v1.10 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Infantile nystagmus v1.10 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Infantile nystagmus v1.10 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Infantile nystagmus v1.10 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Infantile nystagmus v1.10 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Infantile nystagmus v1.10 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Infantile nystagmus v1.10 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Infantile nystagmus v1.10 DAGLA Achchuthan Shanmugasundram Classified gene: DAGLA as Green List (high evidence)
Infantile nystagmus v1.10 DAGLA Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than three unrelated cases with infantile nystagmus and hence this gene can be promoted to green in this panel.
Infantile nystagmus v1.10 DAGLA Achchuthan Shanmugasundram Gene: dagla has been classified as Green List (High Evidence).
Infantile nystagmus v1.9 DAGLA Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality (nystagmus) to congenital nystagmus, MONDO:0005712
Infantile nystagmus v1.8 DAGLA Achchuthan Shanmugasundram Publications for gene: DAGLA were set to PMID: 35737950
Infantile nystagmus v1.7 DAGLA Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Infantile nystagmus v1.6 DAGLA Achchuthan Shanmugasundram reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35737950; Phenotypes: congenital nystagmus, MONDO:0005712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infantile nystagmus v1.6 DAGLA Irina Ziravecka gene: DAGLA was added
gene: DAGLA was added to Infantile nystagmus. Sources: Literature
Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAGLA were set to PMID: 35737950
Phenotypes for gene: DAGLA were set to developmental delay; ataxia; complex oculomotor abnormality (nystagmus)
Mode of pathogenicity for gene: DAGLA was set to Other
Review for gene: DAGLA was set to GREEN
Added comment: PMID: 35737950 - nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype.
Sources: Literature
Infantile nystagmus v1.6 TYR Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' only.

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.
Infantile nystagmus v1.6 TYR Arina Puzriakova Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Infantile nystagmus v1.5 TYR Arina Puzriakova Phenotypes for gene: TYR were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470
Infantile nystagmus v1.4 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia to Episodic ataxia, type 2, OMIM:108500
Infantile nystagmus C10orf11 Louise Daugherty commented on C10orf11
Infantile nystagmus Ellen McDonagh promoted panel to version 1
Infantile nystagmus GNAI3 Ellen McDonagh marked GNAI3 as ready
Infantile nystagmus GNAI3 Ellen McDonagh classified GNAI3 as red
Infantile nystagmus GNAI3 Ellen McDonagh commented on GNAI3
Infantile nystagmus GNAI3 Ellen McDonagh added GNAI3 to panel
Infantile nystagmus GNAI3 Ellen McDonagh reviewed GNAI3
Infantile nystagmus MT-ND6 Alice Gardham marked MT-ND6 as ready
Infantile nystagmus SLC24A5 Alice Gardham marked SLC24A5 as ready
Infantile nystagmus C10orf11 Alice Gardham marked C10orf11 as ready
Infantile nystagmus SLC45A2 Alice Gardham marked SLC45A2 as ready
Infantile nystagmus LYST Alice Gardham marked LYST as ready
Infantile nystagmus OCA2 Alice Gardham marked OCA2 as ready
Infantile nystagmus TYRP1 Alice Gardham marked TYRP1 as ready
Infantile nystagmus TYR Alice Gardham marked TYR as ready
Infantile nystagmus MT-ND2 Alice Gardham marked MT-ND2 as ready
Infantile nystagmus MT-CYB Alice Gardham marked MT-CYB as ready
Infantile nystagmus MT-CO3 Alice Gardham marked MT-CO3 as ready
Infantile nystagmus MT-CO1 Alice Gardham marked MT-CO1 as ready
Infantile nystagmus MT-ATP6 Alice Gardham marked MT-ATP6 as ready
Infantile nystagmus DGUOK Alice Gardham marked DGUOK as ready
Infantile nystagmus MT-ND6 Alice Gardham marked MT-ND6 as ready
Infantile nystagmus GPR143 Alice Gardham marked GPR143 as ready
Infantile nystagmus GPR143 Alice Gardham classified GPR143 as green
Infantile nystagmus GPR143 Alice Gardham commented on GPR143
Infantile nystagmus CACNA1A Alice Gardham marked CACNA1A as ready
Infantile nystagmus CACNA1A Alice Gardham classified CACNA1A as green
Infantile nystagmus CACNA1A Alice Gardham commented on CACNA1A
Infantile nystagmus FRMD7 Alice Gardham marked FRMD7 as ready
Infantile nystagmus FRMD7 Mervyn Thomas reviewed FRMD7
Infantile nystagmus CACNA1A Mervyn Thomas reviewed CACNA1A
Infantile nystagmus GPR143 Mervyn Thomas reviewed GPR143
Infantile nystagmus MT-CYB Ellen McDonagh added MT-CYB to panel
Infantile nystagmus MT-CYB Ellen McDonagh reviewed MT-CYB
Infantile nystagmus MT-CO3 Ellen McDonagh added MT-CO3 to panel
Infantile nystagmus MT-CO3 Ellen McDonagh reviewed MT-CO3
Infantile nystagmus MT-CO1 Ellen McDonagh added MT-CO1 to panel
Infantile nystagmus MT-CO1 Ellen McDonagh reviewed MT-CO1
Infantile nystagmus MT-ND6 Ellen McDonagh added MT-ND6 to panel
Infantile nystagmus MT-ND6 Ellen McDonagh reviewed MT-ND6
Infantile nystagmus MT-ATP6 Ellen McDonagh added MT-ATP6 to panel
Infantile nystagmus MT-ATP6 Ellen McDonagh reviewed MT-ATP6
Infantile nystagmus MT-ND2 Ellen McDonagh added MT-ND2 to panel
Infantile nystagmus MT-ND2 Ellen McDonagh reviewed MT-ND2
Infantile nystagmus DGUOK Ellen McDonagh added DGUOK to panel
Infantile nystagmus DGUOK Ellen McDonagh reviewed DGUOK