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Congenital Myasthenia v1.10 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Congenital Myasthenia v1.10 Zornitza Stark List of related panels changed from to Fatiguable weakness HP:0003473;Hypotonia HP:0001252
Congenital Myasthenia v1.9 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Congenital Myasthenia v1.9 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Congenital Myasthenia v1.9 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Congenital Myasthenia v1.9 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Congenital Myasthenia v1.9 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Congenital Myasthenia v1.9 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Congenital Myasthenia v1.9 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Congenital Myasthenia v1.8 ALG14 Zornitza Stark Publications for gene: ALG14 were set to 23404334; 28733338
Congenital Myasthenia v1.7 ALG14 Zornitza Stark Classified gene: ALG14 as Amber List (moderate evidence)
Congenital Myasthenia v1.7 ALG14 Zornitza Stark Gene: alg14 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.6 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v1.6 AGRN Zornitza Stark Tag treatable tag was added to gene: AGRN.
Tag clinical trial tag was added to gene: AGRN.
Congenital Myasthenia v1.6 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Congenital Myasthenia v1.6 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.5 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v1.5 TOR1AIP1 Zornitza Stark changed review comment from: Single family plus mouse model.; to: Single family plus mouse model. Variants in this gene also cause a range of other muscle disorders.
Congenital Myasthenia v1.5 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Congenital Myasthenia v1.5 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.5 TOR1AIP1 Zornitza Stark Phenotypes for gene: TOR1AIP1 were changed from to Congenital myasthenic syndrome
Congenital Myasthenia v1.4 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Amber List (moderate evidence)
Congenital Myasthenia v1.4 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.3 TOR1AIP1 Zornitza Stark reviewed gene: TOR1AIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital Myasthenia v1.3 TOR1AIP1 Gina Ravenscroft reviewed gene: TOR1AIP1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33215087; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: None
Congenital Myasthenia v1.3 TOR1AIP1 Gina Ravenscroft gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Congenital Myasthenia. Sources: Expert Review
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to PMID: 34164833
Penetrance for gene: TOR1AIP1 were set to Complete
Congenital Myasthenia v1.3 SYT2 Zornitza Stark Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Congenital Myasthenia v1.2 SYT2 Zornitza Stark edited their review of gene: SYT2: Changed phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040, Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive OMIM#619461
Congenital Myasthenia v1.2 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient to Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; Neonatal congenital myasthenia; Escobar syndrome; Myasthenia gravis, neonatal transient
Congenital Myasthenia v1.0 Zornitza Stark promoted panel to version 1.0
Congenital Myasthenia v0.50 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Congenital Myasthenia v0.50 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Congenital Myasthenia v0.50 CHRNE Zornitza Stark Publications for gene: CHRNE were set to
Congenital Myasthenia v0.49 CHRNE Zornitza Stark edited their review of gene: CHRNE: Changed phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Congenital Myasthenia v0.49 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755487, 8957026, 11030414, 12417530, 32727330, 32070632, 31773638; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.49 CHRND Zornitza Stark Marked gene: CHRND as ready
Congenital Myasthenia v0.49 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Congenital Myasthenia v0.49 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
Congenital Myasthenia v0.48 CHRND Zornitza Stark Publications for gene: CHRND were set to
Congenital Myasthenia v0.47 CHRND Zornitza Stark edited their review of gene: CHRND: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.47 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 16916845, 11435464, 12499478, 18398509, 11782989; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.47 COLQ Zornitza Stark Marked gene: COLQ as ready
Congenital Myasthenia v0.47 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Congenital Myasthenia v0.47 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency to Myasthenic syndrome, congenital, 5, MIM# 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Congenital Myasthenia v0.46 COLQ Zornitza Stark Publications for gene: COLQ were set to
Congenital Myasthenia v0.45 COLQ Zornitza Stark reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.45 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Congenital Myasthenia v0.45 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Congenital Myasthenia v0.45 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient to Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient
Congenital Myasthenia v0.44 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Congenital Myasthenia v0.43 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22167768; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.43 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Congenital Myasthenia v0.43 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Congenital Myasthenia v0.43 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Congenital Myasthenia v0.42 RAPSN Zornitza Stark Tag SV/CNV tag was added to gene: RAPSN.
Tag founder tag was added to gene: RAPSN.
Congenital Myasthenia v0.42 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791205, 14504330, 20930056, 25194721; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.42 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Congenital Myasthenia v0.42 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.42 LRP4 Zornitza Stark Publications for gene: LRP4 were set to
Congenital Myasthenia v0.41 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24234652, 26052878, 24200689; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.41 LAMA5 Zornitza Stark Marked gene: LAMA5 as ready
Congenital Myasthenia v0.41 LAMA5 Zornitza Stark Gene: lama5 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.41 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from muscle weakness, myopia, and facial tics to Presynaptic congenital myasthenic syndrome
Congenital Myasthenia v0.40 LAMA5 Zornitza Stark Publications for gene: LAMA5 were set to 28544784
Congenital Myasthenia v0.39 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: None; Publications: 28544784, 29377152; Phenotypes: Presynaptic congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.39 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Congenital Myasthenia v0.39 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.39 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Congenital Myasthenia v0.38 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22742743, 29356258, 28712839, 28662078; Phenotypes: Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.38 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Congenital Myasthenia v0.38 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.38 GFPT1 Zornitza Stark Publications for gene: GFPT1 were set to
Congenital Myasthenia v0.37 GFPT1 Zornitza Stark reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273, 30635494]; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM# 610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.37 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Congenital Myasthenia v0.37 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Congenital Myasthenia v0.37 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Congenital Myasthenia v0.36 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.36 MUSK Zornitza Stark Marked gene: MUSK as ready
Congenital Myasthenia v0.36 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Congenital Myasthenia v0.36 MUSK Zornitza Stark Publications for gene: MUSK were set to
Congenital Myasthenia v0.35 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 15496425, 19949040, 20371544, 32253145; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.35 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Congenital Myasthenia v0.35 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Congenital Myasthenia v0.35 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Congenital Myasthenia v0.34 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766226, 25707578, 32849172; Phenotypes: Myasthenic syndrome, congenital, 16, MIM# 614198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.34 SLC18A3 Zornitza Stark Marked gene: SLC18A3 as ready
Congenital Myasthenia v0.34 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.34 SLC18A3 Zornitza Stark Publications for gene: SLC18A3 were set to
Congenital Myasthenia v0.33 SLC18A3 Zornitza Stark reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27590285, 20123977, 28188302, 31059209; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.33 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Congenital Myasthenia v0.33 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.33 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Congenital Myasthenia v0.32 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 29189923, 30172469; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.32 SYT2 Zornitza Stark Publications for gene: SYT2 were set to 25192047; 32776697; 32250532
Congenital Myasthenia v0.31 SYT2 Zornitza Stark changed review comment from: Mono-allelic disease, PMID 25192047: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in two families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.

Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.; to: Mono-allelic disease, PMID 25192047 and 30533528: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in two families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.

Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.
Congenital Myasthenia v0.31 SYT2 Zornitza Stark edited their review of gene: SYT2: Changed publications: 25192047, 32776697, 32250532, 30533528
Congenital Myasthenia v0.31 SYT2 Zornitza Stark Marked gene: SYT2 as ready
Congenital Myasthenia v0.31 SYT2 Zornitza Stark Gene: syt2 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.31 SYT2 Zornitza Stark Publications for gene: SYT2 were set to
Congenital Myasthenia v0.30 SYT2 Zornitza Stark Mode of inheritance for gene: SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.29 SYT2 Zornitza Stark reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 32776697, 32250532; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.29 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Congenital Myasthenia v0.29 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.29 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Congenital Myasthenia v0.28 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.28 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Congenital Myasthenia v0.28 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.28 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Congenital Myasthenia v0.27 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302,; Phenotypes: Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.27 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Congenital Myasthenia v0.27 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.27 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Congenital Myasthenia v0.26 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151; Phenotypes: Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.26 CHAT Zornitza Stark Marked gene: CHAT as ready
Congenital Myasthenia v0.26 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Congenital Myasthenia v0.26 CHAT Zornitza Stark Publications for gene: CHAT were set to
Congenital Myasthenia v0.25 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.25 ALG2 Zornitza Stark Tag founder tag was added to gene: ALG2.
Congenital Myasthenia v0.25 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Congenital Myasthenia v0.25 ALG2 Zornitza Stark Gene: alg2 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v0.25 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Congenital Myasthenia v0.24 ALG2 Zornitza Stark Publications for gene: ALG2 were set to
Congenital Myasthenia v0.23 ALG2 Zornitza Stark Classified gene: ALG2 as Amber List (moderate evidence)
Congenital Myasthenia v0.23 ALG2 Zornitza Stark Gene: alg2 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v0.22 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23404334, 24461433; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.22 AGRN Zornitza Stark Marked gene: AGRN as ready
Congenital Myasthenia v0.22 AGRN Zornitza Stark Gene: agrn has been classified as Green List (High Evidence).
Congenital Myasthenia v0.22 AGRN Zornitza Stark Publications for gene: AGRN were set to
Congenital Myasthenia v0.21 AGRN Zornitza Stark reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631309, 22205389, 32221959; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Congenital Myasthenia v0.20 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.20 MYO9A Zornitza Stark Publications for gene: MYO9A were set to 6752647; 27259756
Congenital Myasthenia v0.19 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Congenital Myasthenia v0.19 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Congenital Myasthenia v0.19 MYO9A Zornitza Stark Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome 24, presynaptic 618198 to Congenital myasthenic syndrome 24, presynaptic 618198
Congenital Myasthenia v0.18 MYO9A Zornitza Stark Publications for gene: MYO9A were set to
Congenital Myasthenia v0.17 MYO9A Ain Roesley reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26752647, 27259756; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.17 Zornitza Stark Panel name changed from Congenital Myasthenic Syndrome_RMH to Congenital Myasthenia
Congenital Myasthenia v0.16 PREPL Zornitza Stark Marked gene: PREPL as ready
Congenital Myasthenia v0.16 PREPL Zornitza Stark Gene: prepl has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v0.16 PREPL Zornitza Stark Publications for gene: PREPL were set to
Congenital Myasthenia v0.15 PREPL Zornitza Stark Classified gene: PREPL as Amber List (moderate evidence)
Congenital Myasthenia v0.15 PREPL Zornitza Stark Gene: prepl has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v0.14 PREPL Zornitza Stark reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483676, 28726805, 24610330, 27472506; Phenotypes: Myasthenic syndrome, congenital, 22, MIM# 616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Marked gene: RPH3A as ready
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Gene: rph3a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Classified gene: RPH3A as Red List (low evidence)
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Gene: rph3a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.13 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Congenital Myasthenia v0.13 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.13 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Congenital Myasthenia v0.12 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Congenital Myasthenia v0.12 SNAP25 Zornitza Stark Gene: snap25 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.12 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Congenital Myasthenia v0.11 SNAP25 Zornitza Stark Classified gene: SNAP25 as Red List (low evidence)
Congenital Myasthenia v0.11 SNAP25 Zornitza Stark Gene: snap25 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.10 SNAP25 Kunal Verma reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: None; Publications: 25381298; Phenotypes: ?Myasthenic syndrome, congenital, 18 616330; Mode of inheritance: None
Congenital Myasthenia v0.10 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Congenital Myasthenia v0.10 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.10 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from microcephaly, cortical hyperexcitability, and fatal myasthenia to microcephaly, cortical hyperexcitability, and fatal myasthenia; dyskinesia; autism; developmental delay
Congenital Myasthenia v0.9 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Congenital Myasthenia v0.9 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.8 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.8 SLC25A1 Kunal Verma reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26870663, 31527857; Phenotypes: ?Myasthenic syndrome, congenital, 23, presynaptic 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.8 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Congenital Myasthenia v0.8 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.8 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from presynaptic CMS; Congenital myasthenic syndrome to presynaptic CMS; Myasthenic syndrome, congenital, 25, MIM# 618323
Congenital Myasthenia v0.7 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Congenital Myasthenia v0.6 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.6 PLEC Zornitza Stark Marked gene: PLEC as ready
Congenital Myasthenia v0.6 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Congenital Myasthenia v0.6 PLEC Zornitza Stark Classified gene: PLEC as Green List (high evidence)
Congenital Myasthenia v0.6 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Congenital Myasthenia v0.5 RPH3A Kunal Verma reviewed gene: RPH3A: Rating: RED; Mode of pathogenicity: None; Publications: 29441694; Phenotypes: congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.5 Zornitza Stark Panel name changed from Congenital Myaesthenic Syndrome_RMH to Congenital Myasthenic Syndrome_RMH
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Congenital Myasthenia v0.4 PLEC Kunal Verma gene: PLEC was added
gene: PLEC was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert list
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 31509265; 21263134; 20624679
Phenotypes for gene: PLEC were set to epidermolysis bullosa; congenital myasthenic syndrome
Review for gene: PLEC was set to GREEN
Added comment: 5 patients from three independent families; all had EB, some additionally had muscular dystrophy.
Sources: Expert list
Congenital Myasthenia v0.4 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Congenital Myasthenia v0.4 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.4 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Congenital Myasthenia v0.3 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Congenital Myasthenia v0.3 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.3 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations to Pierson syndrome, MIM# 609049; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Congenital Myasthenia v0.2 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Congenital Myasthenia v0.1 LAMB2 Zornitza Stark Classified gene: LAMB2 as Red List (low evidence)
Congenital Myasthenia v0.1 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.0 ALG14 Kunal Verma reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 23404334, 28733338; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Myasthenia, myopathy, neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.0 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: 19251977; Phenotypes: Pierson syndrome, MIM# 609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome
Congenital Myasthenia v0.0 UNC13A Bryony Thompson gene: UNC13A was added
gene: UNC13A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 19558619; 27648472
Phenotypes for gene: UNC13A were set to microcephaly, cortical hyperexcitability, and fatal myasthenia
Congenital Myasthenia v0.0 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, 616040
Congenital Myasthenia v0.0 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330
Congenital Myasthenia v0.0 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy
Congenital Myasthenia v0.0 SLC25A1 Bryony Thompson gene: SLC25A1 was added
gene: SLC25A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197
Congenital Myasthenia v0.0 SLC18A3 Bryony Thompson gene: SLC18A3 was added
gene: SLC18A3 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239
Congenital Myasthenia v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Myasthenic syndrome, congenital, 16, 614198
Congenital Myasthenia v0.0 RPH3A Bryony Thompson gene: RPH3A was added
gene: RPH3A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPH3A were set to 29441694
Phenotypes for gene: RPH3A were set to Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis
Congenital Myasthenia v0.0 RAPSN Bryony Thompson gene: RAPSN was added
gene: RAPSN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset
Congenital Myasthenia v0.0 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224
Congenital Myasthenia v0.0 MYO9A Bryony Thompson gene: MYO9A was added
gene: MYO9A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to congenital myasthenic syndrome 24, presynaptic 618198
Congenital Myasthenia v0.0 MUSK Bryony Thompson gene: MUSK was added
gene: MUSK was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
Congenital Myasthenia v0.0 LRP4 Bryony Thompson gene: LRP4 was added
gene: LRP4 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304
Congenital Myasthenia v0.0 LAMB2 Bryony Thompson gene: LAMB2 was added
gene: LAMB2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Congenital Myasthenia v0.0 LAMA5 Bryony Thompson gene: LAMA5 was added
gene: LAMA5 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 28544784
Phenotypes for gene: LAMA5 were set to muscle weakness, myopia, and facial tics
Congenital Myasthenia v0.0 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Congenital Myasthenia v0.0 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome
Congenital Myasthenia v0.0 DPAGT1 Bryony Thompson gene: DPAGT1 was added
gene: DPAGT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; Congenital disorder of glycosylation, type Ij, 608093
Congenital Myasthenia v0.0 DOK7 Bryony Thompson gene: DOK7 was added
gene: DOK7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial
Congenital Myasthenia v0.0 COLQ Bryony Thompson gene: COLQ was added
gene: COLQ was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Congenital Myasthenia v0.0 COL13A1 Bryony Thompson gene: COL13A1 was added
gene: COL13A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, 616720
Congenital Myasthenia v0.0 CHRNG Bryony Thompson gene: CHRNG was added
gene: CHRNG was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient
Congenital Myasthenia v0.0 CHRNE Bryony Thompson gene: CHRNE was added
gene: CHRNE was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Congenital Myasthenia v0.0 CHRND Bryony Thompson gene: CHRND was added
gene: CHRND was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
Congenital Myasthenia v0.0 CHRNB1 Bryony Thompson gene: CHRNB1 was added
gene: CHRNB1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Congenital Myasthenia v0.0 CHRNA1 Bryony Thompson gene: CHRNA1 was added
gene: CHRNA1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Congenital Myasthenia v0.0 CHAT Bryony Thompson gene: CHAT was added
gene: CHAT was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210
Congenital Myasthenia v0.0 ALG2 Bryony Thompson gene: ALG2 was added
gene: ALG2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Congenital Myasthenia v0.0 ALG14 Bryony Thompson gene: ALG14 was added
gene: ALG14 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Congenital Myasthenia v0.0 AGRN Bryony Thompson gene: AGRN was added
gene: AGRN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Congenital Myasthenia v0.0 Bryony Thompson Added panel Congenital Myaesthenic Syndrome_RMH