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Pigmentary skin disorders v2.5 LTV1 Achchuthan Shanmugasundram Gene: ltv1 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v2.4 LTV1 Achchuthan Shanmugasundram gene: LTV1 was added
gene: LTV1 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: LTV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTV1 were set to 34999892
Phenotypes for gene: LTV1 were set to Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199
Review for gene: LTV1 was set to AMBER
Added comment: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies.

PMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK).

Both in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast.

This gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype.
Sources: Literature
Pigmentary skin disorders v2.4 LTV1 Achchuthan Shanmugasundram gene: LTV1 was added
gene: LTV1 was added to Pigmentary skin disorders. Sources: Literature
Mode of inheritance for gene: LTV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTV1 were set to 34999892
Phenotypes for gene: LTV1 were set to Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199
Review for gene: LTV1 was set to AMBER
Added comment: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies.

PMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK).

Both in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast.

This gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype.
Sources: Literature
Early onset or syndromic epilepsy v3.52 FGFR3 Sarah Leigh Publications for gene: FGFR3 were set to 28551036; 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6; http://www.ashg.org/genetics/ashg07s/f20570.htm; https://jicna.org/index.php/journal/article/view/100
Early onset or syndromic epilepsy v3.51 FGFR3 Sarah Leigh Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome, 602849; Epilepsy to Hypochondroplasia, OMIM:146000; hypochondroplasia, MONDO:0007793; Muenke syndrome, OMIM:602849; Muenke syndrome, MONDO:0011274; SADDAN, OMIM:616482; severe achondroplasia-developmental delay-acanthosis nigricans syndrome, MONDO:0014658
Early onset or syndromic epilepsy v3.50 GABRB1 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: GABRB1.
Early onset or syndromic epilepsy v3.50 GABRB1 Sarah Leigh edited their review of gene: GABRB1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in unrelated cases with epilepsy (PMID: 26950270, 27273810, 31618474).; Changed rating: GREEN
Early onset or syndromic epilepsy v3.50 GABRB1 Sarah Leigh Classified gene: GABRB1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v3.50 GABRB1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v3.50 GABRB1 Sarah Leigh Gene: gabrb1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v3.49 GABRB1 Sarah Leigh Phenotypes for gene: GABRB1 were changed from Epileptic encephalopathy, early infantile, 45, 617153 to Epileptic encephalopathy, early infantile, 45, OMIM:617153; developmental and epileptic encephalopathy, 45, MONDO:0014942
Early onset or syndromic epilepsy v3.48 GABRB1 Sarah Leigh Publications for gene: GABRB1 were set to 26950270; 27273810
Early onset or syndromic epilepsy v3.47 NEDD4L Sarah Leigh Tag Q1_23_promote_green tag was added to gene: NEDD4L.
Early onset or syndromic epilepsy v3.47 NEDD4L Sarah Leigh edited their review of gene: NEDD4L: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least five variants have been reported in cases where seizures are reported (PMIDs:28515470, 27694961, 32117442).; Changed rating: GREEN; Changed publications to: 32117442
Early onset or syndromic epilepsy v3.47 NEDD4L Sarah Leigh Classified gene: NEDD4L as Amber List (moderate evidence)
Early onset or syndromic epilepsy v3.47 NEDD4L Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v3.47 NEDD4L Sarah Leigh Gene: nedd4l has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.33 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from non-syndromic congeital hyperinsulinism; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979 to non-syndromic congeital hyperinsulinism; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; CACNA1C-related disorder
Early onset or syndromic epilepsy v3.46 CACNA1C Eleanor Williams Added comment: Comment on phenotypes: Adding back the phenotype of 'CACNA1C-related disorder' as this was specifically asked to be added by NHSE.
Early onset or syndromic epilepsy v3.46 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome OMIM:601005 to Timothy syndrome OMIM:601005; CACNA1C-related disorder
Cytopenias and congenital anaemias v1.111 RAD51 Øystein Holla gene: RAD51 was added
gene: RAD51 was added to Cytopenias and congenital anaemias. Sources: Literature
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAD51 were set to 26681308; 30907510; 26253028
Phenotypes for gene: RAD51 were set to Fanconi anemia, atypical
Penetrance for gene: RAD51 were set to unknown
Review for gene: RAD51 was set to GREEN
Added comment: Three cases published, all with de novo variants and atypical Fanconi phenotype. Dominant negative effect. RAD51 haploinsufficiency cause mirror movements.
Sources: Literature
Cytopenias and congenital anaemias v1.111 RFWD3 Øystein Holla changed review comment from: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature; to: Only one compound heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature
Cytopenias and congenital anaemias v1.111 RFWD3 Øystein Holla changed review comment from: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929)
Sources: Literature; to: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature
Hereditary ataxia, adult onset v3.12 FGF14_GAA Philip Twiss STR: FGF14_GAA was added
STR: FGF14_GAA was added to Hereditary ataxia - adult onset. Sources: Literature
Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FGF14_GAA were set to PMID: 36516086
Phenotypes for STR: FGF14_GAA were set to Late-onset cerebellar ataxia; Episodic features; Nystagmus
Penetrance for STR: FGF14_GAA were set to Complete
Review for STR: FGF14_GAA was set to AMBER
Added comment: New STR disease loci reported to account for significant number of dominant late onset ataxia cases. Not current standard of care therefore no diagnostic accredited PCR assays available currently in UK.
Sources: Literature
Cytopenias and congenital anaemias v1.111 RFWD3 Øystein Holla gene: RFWD3 was added
gene: RFWD3 was added to Cytopenias and congenital anaemias. Sources: Literature
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia
Penetrance for gene: RFWD3 were set to unknown
Review for gene: RFWD3 was set to RED
Added comment: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929)
Sources: Literature
Hereditary spastic paraplegia, adult onset v2.12 SPAST Achchuthan Shanmugasundram Publications for gene: SPAST were set to 16240363; 15248095
Early onset or syndromic epilepsy v3.45 ARX Achchuthan Shanmugasundram Publications for gene: ARX were set to Tsurusaki et al (2002) Nature 30: 441-445; Kato et al (2004) Hum Mut 23: 147-159; Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991; Partington et al (1998) Am J Med Genet 30: 251-262; 35094084
Early onset or syndromic epilepsy v3.44 ARX Achchuthan Shanmugasundram Publications for gene: ARX were set to Tsurusaki et al (2002) Nature 30: 441-445; Kato et al (2004) Hum Mut 23: 147-159; Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991; Partington et al (1998) Am J Med Genet 30: 251-262
Hereditary spastic paraplegia v1.298 SPAST Achchuthan Shanmugasundram Publications for gene: SPAST were set to Hazan et al (1999)
Osteogenesis imperfecta v3.7 WNT11 Achchuthan Shanmugasundram changed review comment from: Comment on gene classification: The rating of this gene can be added as green as this gene has been implicated in early-onset osteoporosis from three unrelated cases and was supported by evidence from functional studies. All three patients harboured heterozygous variants in WNT11 gene.

Three unrelated cases are reported in PMID: 34875064. A four year-old boy harbouring de novo heterozygous loss-of-function variant c.677_678dupGG (p.Leu227Glyfs*22) was reported with low BMD, osteopenia and several fractures.

A 51 year-old woman and her 69 year-old mother were identified with a heterozygous missense variant c.217G>A (p.Ala73Thr). The woman was reported with bone fragility, several fractures, osteoarthritis and osteoporosis, while her mother also had several osteoporotic fractures.

A 61 year-old woman that was reported with lumbar spine osteoarthritis had several fractures since 55 years of age was identified with a heterozygous missense variant c.865G>A (p.Val289Met).

This was also supported by results from functional studies, where cell lines with the loss-of-function variant generated by CRISPR-Cas9 showed reduced cell proliferation and osteoblast differentiation in comparison to wild-type. The expression of genes in the Wnt canonical and non-canonical pathways was inhibited in these mutant cells.
Sources: Literature; to: Comment on gene classification: The rating of this gene can be added as green as this gene has been implicated in early-onset osteoporosis from three unrelated cases and was supported by evidence from functional studies. All three patients harboured heterozygous variants in WNT11 gene.

Three unrelated cases are reported in PMID: 34875064. A four year-old boy harbouring de novo heterozygous loss-of-function variant c.677_678dupGG (p.Leu227Glyfs*22) was reported with low BMD, osteopenia and several fractures.

A 51 year-old woman and her 69 year-old mother were identified with a heterozygous missense variant c.217G>A (p.Ala73Thr). The woman was reported with bone fragility, several fractures, osteoarthritis and osteoporosis, while her mother also had several osteoporotic fractures.

A 61 year-old woman that was reported with lumbar spine osteoarthritis had several fractures since 55 years of age was identified with a heterozygous missense variant c.865G>A (p.Val289Met).

This was also supported by results from functional studies, where cell lines with the loss-of-function variant generated by CRISPR-Cas9 showed reduced cell proliferation and osteoblast differentiation in comparison to wild-type. The expression of genes in the Wnt canonical and non-canonical pathways was inhibited in these mutant cells.

This gene has not yet been reported with any phenotypes either in OMIM or in G2P.
Sources: Literature
Osteogenesis imperfecta v3.7 WNT11 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: WNT11.
Osteogenesis imperfecta v3.7 WNT11 Achchuthan Shanmugasundram Classified gene: WNT11 as Amber List (moderate evidence)
Osteogenesis imperfecta v3.7 WNT11 Achchuthan Shanmugasundram Gene: wnt11 has been classified as Amber List (Moderate Evidence).
Osteogenesis imperfecta v3.6 WNT11 Achchuthan Shanmugasundram gene: WNT11 was added
gene: WNT11 was added to Osteogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: WNT11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WNT11 were set to 34875064
Phenotypes for gene: WNT11 were set to osteoporosis, MONDO:0005298; osteoarthritis, MONDO:0005178; recurrent fractures
Review for gene: WNT11 was set to GREEN
Added comment: Comment on gene classification: The rating of this gene can be added as green as this gene has been implicated in early-onset osteoporosis from three unrelated cases and was supported by evidence from functional studies. All three patients harboured heterozygous variants in WNT11 gene.

Three unrelated cases are reported in PMID: 34875064. A four year-old boy harbouring de novo heterozygous loss-of-function variant c.677_678dupGG (p.Leu227Glyfs*22) was reported with low BMD, osteopenia and several fractures.

A 51 year-old woman and her 69 year-old mother were identified with a heterozygous missense variant c.217G>A (p.Ala73Thr). The woman was reported with bone fragility, several fractures, osteoarthritis and osteoporosis, while her mother also had several osteoporotic fractures.

A 61 year-old woman that was reported with lumbar spine osteoarthritis had several fractures since 55 years of age was identified with a heterozygous missense variant c.865G>A (p.Val289Met).

This was also supported by results from functional studies, where cell lines with the loss-of-function variant generated by CRISPR-Cas9 showed reduced cell proliferation and osteoblast differentiation in comparison to wild-type. The expression of genes in the Wnt canonical and non-canonical pathways was inhibited in these mutant cells.
Sources: Literature
Early onset or syndromic epilepsy v3.43 NEDD4L Sarah Leigh Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia 7, 617201 to Periventricular nodular heterotopia 7, OMIM:617201; periventricular nodular heterotopia 7, MONDO:0014966
Early onset or syndromic epilepsy v3.42 NEDD4L Sarah Leigh Publications for gene: NEDD4L were set to 28515470; 23934111; 28212375; 27694961
Early onset or syndromic epilepsy v3.41 NEDD4L Sarah Leigh Publications for gene: NEDD4L were set to 27694961; 23934111
Skeletal dysplasia v3.7 WNT1 Achchuthan Shanmugasundram Publications for gene: WNT1 were set to 23499309; 23499310; 23434763; 23656646
Skeletal dysplasia v3.7 WNT1 Achchuthan Shanmugasundram Publications for gene: WNT1 were set to 34875064
Skeletal dysplasia v3.6 WNT1 Achchuthan Shanmugasundram Publications for gene: WNT1 were set to 34875064
Skeletal dysplasia v3.6 WNT1 Achchuthan Shanmugasundram Publications for gene: WNT1 were set to
Neurological segmental overgrowth v2.5 Catherine Snow Panel signed off version 2.2 has been removed
Neurological segmental overgrowth v2.3 Catherine Snow Panel version 2.2 has been signed off on 2023-02-13
Severe early-onset obesity v3.4 ADCY3 Dmitrijs Rots gene: ADCY3 was added
gene: ADCY3 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: ADCY3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADCY3 were set to 29311637; 35026759
Phenotypes for gene: ADCY3 were set to Monogenic severe obesity
Penetrance for gene: ADCY3 were set to unknown
Review for gene: ADCY3 was set to GREEN
Added comment: Multiple idependet cases reported with early onset severe obesity and LoF variants ir ADCY3.
Sources: Literature
Congenital myopathy v3.124 ZC4H2 Anna Sarkozy reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v3.124 TRDN Anna Sarkozy reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:25922419, 28202702, 30649896; Phenotypes: skeletal myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v3.40 NPRL2 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:34965576 describes conditional knockout mouse model of NPRL2-related epilepsy.
Early onset or syndromic epilepsy v3.40 NPRL2 Achchuthan Shanmugasundram Publications for gene: NPRL2 were set to 26505888; 27173016; 30093711
Early onset or syndromic epilepsy v3.39 NPRL3 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:34965576 describes conditional knockout mouse model of NPRL3-related epilepsy.
Early onset or syndromic epilepsy v3.39 NPRL3 Achchuthan Shanmugasundram Publications for gene: NPRL3 were set to 26505888; 26285051; 27173016; 34965576
Early onset or syndromic epilepsy v3.38 NPRL3 Achchuthan Shanmugasundram Publications for gene: NPRL3 were set to 26505888; 26285051; 27173016
Intellectual disability v4.66 HIST1H1E Achchuthan Shanmugasundram Publications for gene: HIST1H1E were set to 28475857
Intellectual disability v4.65 RAB39B Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases diagnosed with intellectual disability, autism, macrocephaly and poor motor coordination reported in PMIDs 29152164, 32873259 & 34761259. There are also ample functional evidence including studies from animal models described in these and other publications.
Intellectual disability v4.65 RAB39B Achchuthan Shanmugasundram Publications for gene: RAB39B were set to 20159109; 25434005; 11050621; 29152164; 32873259; 34761259
Intellectual disability v4.64 RAB39B Achchuthan Shanmugasundram Publications for gene: RAB39B were set to
Intellectual disability v4.63 RAB39B Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from Mental retardation, X-linked 72, 300271; Mental Retardation, X-linked; MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510
Fetal anomalies v2.11 RAB39B Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510
Neurodegenerative disorders, adult onset v3.50 RAB39B Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from early-onset parkinsonism and intellectual disability; ?Waisman syndrome to early-onset parkinsonism and intellectual disability; Waisman syndrome, OMIM:311510
Parkinson Disease and Complex Parkinsonism v1.111 RAB39B Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from ?Waisman syndrome; early-onset parkinsonism and intellectual disability to Waisman syndrome, OMIM:311510; early-onset parkinsonism and intellectual disability
Renal ciliopathies v2.9 ANKS6 Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Renal ciliopathies v2.9 ANKS6 Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Renal ciliopathies v2.8 ANKS6 Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382 to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Renal ciliopathies v2.8 ANKS6 Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, 615382; Nephronophthisis to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel; Nephronophthisis 16, OMIM:615382
Renal ciliopathies v2.7 ANKS6 Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to 34740236
Renal ciliopathies v2.6 ANKS6 Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236.
Renal ciliopathies v2.6 ANKS6 Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to 34740236
Renal ciliopathies v2.5 ANKS6 Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236.
Renal ciliopathies v2.5 ANKS6 Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to
Cystic kidney disease v3.7 ANKS6 Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases (two affected siblings identified with biallelic ANKS6 variants and reported with late-onset chronic kidney disease) and functional studies in PMID:34740236.
Cystic kidney disease v3.7 ANKS6 Achchuthan Shanmugasundram Publications for gene: ANKS6 were set to
Cystic kidney disease v3.6 ANKS6 Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16, OMIM:615382 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16, OMIM:615382
Cystic kidney disease v3.5 ANKS6 Achchuthan Shanmugasundram Phenotypes for gene: ANKS6 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 16, OMIM:615382
Ehlers Danlos syndrome with a likely monogenic cause v2.69 COL5A1 Achchuthan Shanmugasundram Publications for gene: COL5A1 were set to 28306229; 28192633; 22696272; 15264295; 9042913
Hereditary neuropathy or pain disorder v2.20 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 26392352
Hereditary neuropathy v1.460 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 26392352
Paediatric motor neuronopathies v2.11 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to 34726235
Paediatric motor neuronopathies v2.10 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were set to
Retinal disorders v3.32 CWC27 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:34726245 reports functional studies from mouse model in support of the association of this gene to retinal abnormalities.
Retinal disorders v3.32 CWC27 Achchuthan Shanmugasundram Publications for gene: CWC27 were set to 28285769
Retinal disorders v3.31 RDH5 Achchuthan Shanmugasundram changed review comment from: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).; to: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).

In addition, a review of the database of patients with inherited retinal disease at Moorfields Eye Hospital London and The Hospital for Sick Children Toronto identified 17 patients with confirmed biallelic mutations in RDH5. Of these, seven patients (from six families) had macular atrophy evident on SD-OCT and/or fundus autofluorescence imaging.
Retinal disorders v3.31 RDH5 Achchuthan Shanmugasundram Added comment: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).
Retinal disorders v3.31 RDH5 Achchuthan Shanmugasundram Publications for gene: RDH5 were set to 21529959
Palmoplantar keratodermas v2.7 KDSR Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
Palmoplantar keratodermas v2.7 KDSR Achchuthan Shanmugasundram Publications for gene: KDSR were set to
Ichthyosis and erythrokeratoderma v2.13 KDSR Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
Ichthyosis and erythrokeratoderma v2.13 KDSR Achchuthan Shanmugasundram Publications for gene: KDSR were set to 28575652
Palmoplantar keratoderma and erythrokeratodermas v1.28 KDSR Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
Palmoplantar keratoderma and erythrokeratodermas v1.28 KDSR Achchuthan Shanmugasundram Publications for gene: KDSR were set to 28575652; 34686882
Palmoplantar keratoderma and erythrokeratodermas v1.27 KDSR Achchuthan Shanmugasundram Deleted their comment
Palmoplantar keratoderma and erythrokeratodermas v1.27 KDSR Achchuthan Shanmugasundram Added comment: Comment on publications: Additional patient reported in PMID:34686882.
Palmoplantar keratoderma and erythrokeratodermas v1.27 KDSR Achchuthan Shanmugasundram Publications for gene: KDSR were set to 28575652
Retinal disorders v3.30 KCNV2 Achchuthan Shanmugasundram reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23221069, 31960170, 34535971, 34652420; Phenotypes: Retinal cone dystrophy 3B, OMIM:610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.62 TRPM3 Eleanor Williams Phenotypes for gene: TRPM3 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224
Intellectual disability v4.61 TRPM3 Eleanor Williams Tag gene-checked was removed from gene: TRPM3.
Early onset or syndromic epilepsy v3.37 TRPM3 Eleanor Williams Tag gene-checked was removed from gene: TRPM3.
Early onset or syndromic epilepsy v3.37 TRPM3 Eleanor Williams Phenotypes for gene: TRPM3 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224
Unexplained death in infancy and sudden unexplained death in childhood v3.45 Eleanor Williams Panel name changed from Unexplained death in infancy and childhood to Unexplained death in infancy and sudden unexplained death in childhood
Cerebral vascular malformations v2.68 COL3A1 Eleanor Williams Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Cerebral vascular malformations v2.68 COL3A1 Eleanor Williams commented on gene: COL3A1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Early onset or syndromic epilepsy v3.36 FAR1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: FAR1.
Tag Q2_21_MOI was removed from gene: FAR1.
Tag Q3_22_NHS_review was removed from gene: FAR1.
Early onset or syndromic epilepsy v3.36 FAR1 Eleanor Williams commented on gene: FAR1
Early onset or syndromic epilepsy v3.36 FAR1 Eleanor Williams Classified gene: FAR1 as Green List (high evidence)
Early onset or syndromic epilepsy v3.36 FAR1 Eleanor Williams Gene: far1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v3.35 MED12 Eleanor Williams Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Clefting v3.6 MED12 Eleanor Williams commented on gene: MED12: The mode of inheritance has been left as 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' with agreement from the Genomics Unit at NHSE.
Hypophosphataemia or rickets v3.1 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1
Hypophosphataemia or rickets v3.1 SLC9A3R1 Eleanor Williams Tag new-gene-name tag was added to gene: SLC9A3R1.
Renal tubulopathies v3.3 SLC9A3R1 Eleanor Williams Tag new-gene-name tag was added to gene: SLC9A3R1.
Renal tubulopathies v3.3 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1: Added new-gene-name tag, new approved HGNC gene symbol for SLC9A3R1 (HGNC:11075) is NHERF1.
Nephrocalcinosis or nephrolithiasis v3.4 SLC9A3R1 Eleanor Williams Tag new-gene-name tag was added to gene: SLC9A3R1.
Nephrocalcinosis or nephrolithiasis v3.4 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1: Added new-gene-name tag, new approved HGNC gene symbol for SLC9A3R1 (HGNC:11075) is NHERF1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 RNU12 Eleanor Williams Tag gene-checked tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v2.3 RNU12 Eleanor Williams Tag gene-checked tag was added to gene: RNU12.
Neonatal diabetes v3.3 ZNF808 Eleanor Williams Tag gene-checked tag was added to gene: ZNF808.
Intellectual disability v4.61 TMEM63C Eleanor Williams Tag gene-checked tag was added to gene: TMEM63C.
Hereditary spastic paraplegia, childhood onset v3.12 TMEM63C Eleanor Williams Tag gene-checked tag was added to gene: TMEM63C.
White matter disorders and cerebral calcification - childhood onset v2.9 TMEM63A Eleanor Williams Tag gene-checked tag was added to gene: TMEM63A.
Dystonia, chorea or related movement disorder, childhood onset v2.11 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Intellectual disability v4.61 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Early onset or syndromic epilepsy v3.35 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Monogenic hearing loss v3.8 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Hereditary spastic paraplegia, childhood onset v3.12 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Severe microcephaly v3.7 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Pituitary hormone deficiency v2.106 RNPC3 Eleanor Williams Tag gene-checked tag was added to gene: RNPC3.
Optic neuropathy v3.10 DNAJC30 Eleanor Williams Phenotypes for gene: DNAJC30 were changed from to Leber hereditary optic neuropathy, MONDO:0010788
Optic neuropathy v3.9 DNAJC30 Eleanor Williams Publications for gene: DNAJC30 were set to
Optic neuropathy v3.8 DNAJC30 Eleanor Williams Tag gene-checked tag was added to gene: DNAJC30.
Intellectual disability v4.61 CCDC32 Eleanor Williams Tag gene-checked tag was added to gene: CCDC32.
Mitochondrial disorders v3.7 NAXD Eleanor Williams Added comment: Comment on mode of inheritance: Setting the mode of inheritance to Biallelic as per OMIM and the expert reviewer.
Mitochondrial disorders v3.7 NAXD Eleanor Williams Mode of inheritance for gene: NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v4.8 KIF21A Achchuthan Shanmugasundram edited their review of gene: KIF21A: Changed phenotypes to: arthrogryposis, MONDO:0008779, fetal akinesia
Arthrogryposis v4.8 KIF21A Achchuthan Shanmugasundram Phenotypes for gene: KIF21A were changed from Arthrogryposis; fetal akinesia to arthrogryposis, MONDO:0008779; fetal akinesia
Arthrogryposis v4.7 KIF21A Achchuthan Shanmugasundram Publications for gene: KIF21A were set to 34740919
Arthrogryposis v4.6 KIF21A Achchuthan Shanmugasundram Classified gene: KIF21A as Amber List (moderate evidence)
Arthrogryposis v4.6 KIF21A Achchuthan Shanmugasundram Gene: kif21a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v4.5 KIF21A Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: KIF21A.
Arthrogryposis v4.5 KIF21A Achchuthan Shanmugasundram reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32686171, 34740919; Phenotypes: arthrogryposis, MONDO:0008779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.10 WNT7B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNT7B.
Intellectual disability v4.61 WNK3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNK3.
Malformations of cortical development v3.11 WNK3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNK3.
Early onset or syndromic epilepsy v3.35 WNK3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNK3.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 TPSAB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TPSAB1.
Skeletal ciliopathies v2.5 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Neurological ciliopathies v2.6 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Structural eye disease v2.3 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Thoracic dystrophies v1.18 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Pituitary hormone deficiency v2.106 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Intellectual disability v4.61 SRRM2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SRRM2.
Pituitary hormone deficiency v2.106 SLC20A1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC20A1.
Fetal anomalies v2.10 SLC20A1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC20A1.
Paediatric disorders - additional genes v2.7 SIX2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SIX2.
Paediatric pseudo-obstruction syndrome v0.217 SEMA3F Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SEMA3F.
Hypogonadotropic hypogonadism (GMS) v2.5 SEMA3F Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SEMA3F.
Intellectual disability v4.61 SCAMP5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SCAMP5.
Early onset or syndromic epilepsy v3.35 SCAMP5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SCAMP5.
Intellectual disability v4.61 SCAF4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SCAF4.
Early onset or syndromic epilepsy v3.35 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
DDG2P v3.1 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
Fetal anomalies v2.10 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
Intellectual disability v4.61 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
Paediatric pseudo-obstruction syndrome v0.217 PROKR1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PROKR1.
Paediatric pseudo-obstruction syndrome v0.217 PROK1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PROK1.
Hypogonadotropic hypogonadism (GMS) v2.5 PLXNA3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PLXNA3.
Ataxia and cerebellar anomalies - childhood onset v3.38 MTCL1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MTCL1.
Hypogonadotropic hypogonadism (GMS) v2.5 KLB Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KLB.
Intellectual disability v4.61 HMGB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HMGB1.
Limb disorders v3.6 HMGB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HMGB1.
Severe microcephaly v3.7 HMGB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HMGB1.
Severe microcephaly v3.7 GINS3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GINS3.
Intellectual disability v4.61 FOXP4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4.
Fetal anomalies v2.10 FOXP4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4.
Paediatric disorders - additional genes v2.7 FOXP4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4.
Monogenic hearing loss v3.8 DVL2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DVL2.
Limb disorders v3.6 DVL2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DVL2.
Skeletal dysplasia v3.5 DVL2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DVL2.
Intellectual disability v4.61 DROSHA Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DROSHA.
Early onset or syndromic epilepsy v3.35 DROSHA Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DROSHA.
Skeletal dysplasia v3.5 DROSHA Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DROSHA.
Severe microcephaly v3.7 DROSHA Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DROSHA.
DDG2P v3.1 CRIM1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CRIM1.
Structural eye disease v2.3 CRIM1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CRIM1.
Intellectual disability v4.61 CDK9 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CDK9.
Bilateral congenital or childhood onset cataracts v3.3 CDK9 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CDK9.
Intellectual disability v4.61 BLOC1S1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
Early onset or syndromic epilepsy v3.35 BLOC1S1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
Hereditary spastic paraplegia, childhood onset v3.12 BLOC1S1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
Optic neuropathy v3.8 BLOC1S1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
White matter disorders and cerebral calcification - childhood onset v2.9 BLOC1S1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram Deleted their review
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram Classified gene: RPS27 as Amber List (moderate evidence)
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram Gene: rps27 has been classified as Amber List (Moderate Evidence).
Rare anaemia v2.4 RPS27 Achchuthan Shanmugasundram Deleted their comment
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram Deleted their review
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram Classified gene: RPL27 as Amber List (moderate evidence)
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram Gene: rpl27 has been classified as Amber List (Moderate Evidence).
Rare anaemia v2.3 RPL27 Achchuthan Shanmugasundram Deleted their comment
Cytopenia - NOT Fanconi anaemia v2.4 RPL27 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. The GMS reviewers note that this gene should be demoted to amber as there is only one case, but supported by functional studies and mutation of multiple other ribosomal genes results in the same phenotype.; to: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. The GMS reviewers note that this gene should be demoted to amber as there is only one case, but supported by functional studies and mutation of multiple other ribosomal genes results in the same phenotype.
Cytopenia - NOT Fanconi anaemia v2.4 RPL27 Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cytopenia - NOT Fanconi anaemia v2.4 RPL27 Achchuthan Shanmugasundram Deleted their review
Cytopenia - NOT Fanconi anaemia v2.4 RPL27 Achchuthan Shanmugasundram Deleted their comment
Cytopenia - NOT Fanconi anaemia v2.4 RPL27 Achchuthan Shanmugasundram Classified gene: RPL27 as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v2.4 RPL27 Achchuthan Shanmugasundram Gene: rpl27 has been classified as Amber List (Moderate Evidence).
Intellectual disability v4.61 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
DDG2P v3.1 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
Congenital myopathy v3.124 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
Cerebral vascular malformations v2.68 ANGPTL6 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ANGPTL6.
Arthrogryposis v4.5 ADAMTS15 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ADAMTS15.
Intellectual disability v4.61 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.61 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Early onset or syndromic epilepsy v3.35 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Early onset or syndromic epilepsy v3.34 PGM2L1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PGM2L1.
Intellectual disability v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability v4.59 PGM2L1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PGM2L1.
Severe early-onset obesity v3.4 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
COVID-19 research v1.136 DCLRE1B Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DCLRE1B.
COVID-19 research v1.136 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 DCLRE1B Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DCLRE1B.
Intellectual disability v4.59 THUMPD1 Eleanor Williams Added comment: Comment on mode of inheritance: Adding the mode of inheritance of biallelic as this was missing. Autosomal recessive MOI in OMIM for a relevant phenotype.
Intellectual disability v4.59 THUMPD1 Eleanor Williams Mode of inheritance for gene: THUMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.58 THUMPD1 Eleanor Williams Phenotypes for gene: THUMPD1 were changed from THUMPD1 neurodevelopment disorder to Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from Hoyeraal-Hreidarsson syndrome; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Non-syndromic hypotrichosis v1.12 C3orf52 Achchuthan Shanmugasundram Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis 15, OMIM:620177
Ectodermal dysplasia v2.6 C3orf52 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: C3orf52.
Ectodermal dysplasia v2.6 C3orf52 Achchuthan Shanmugasundram Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis 15, OMIM:620177
Iron metabolism disorders - NOT common HFE mutations v1.40 BMP6 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: BMP6.
Iron metabolism disorders - NOT common HFE mutations v1.40 BMP6 Achchuthan Shanmugasundram Phenotypes for gene: BMP6 were changed from {Iron overload, susceptibility to}, OMIM:620121; Hemochromatosis type 5 ORPHA:447792 to {Iron overload, susceptibility to}, OMIM:620121
Iron metabolism disorders - NOT common HFE mutations v1.39 BMP6 Achchuthan Shanmugasundram Phenotypes for gene: BMP6 were changed from Hemochromatosis type 5 ORPHA:447792 to {Iron overload, susceptibility to}, OMIM:620121; Hemochromatosis type 5 ORPHA:447792
Early onset or syndromic epilepsy v3.34 CAPRIN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CAPRIN1.
Early onset or syndromic epilepsy v3.34 CAPRIN1 Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 35979925; 35977029; 28135719; 31398340; https://doi.org/10.1101/2021.12.20.21267194
Early onset or syndromic epilepsy v3.33 CAPRIN1 Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v3.33 CAPRIN1 Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v3.32 CAPRIN1 Achchuthan Shanmugasundram reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35979925; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, Epilepsy, MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v4.57 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from Wolf-Hirschhorn syndrome, OMIM:194190 to Wolf-Hirschhorn syndrome, OMIM:194190
Intellectual disability v4.57 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
Early onset or syndromic epilepsy v3.32 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
Paediatric motor neuronopathies v2.9 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
IUGR and IGF abnormalities v1.58 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
Congenital myopathy v3.124 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
Paediatric motor neuronopathies v2.8 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from Koolen-de Vries/KANSL haploinsufficiency syndrome. to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Intellectual disability v4.56 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
IUGR and IGF abnormalities v1.57 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Intellectual disability v4.55 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Paediatric motor neuronopathies v2.7 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Congenital myopathy v3.123 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
IUGR and IGF abnormalities v1.56 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Congenital myopathy v3.123 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features
Intellectual disability v4.55 ISCA-37408-Loss Arina Puzriakova commented on Region: ISCA-37408-Loss
Paediatric motor neuronopathies v2.7 ISCA-37408-Loss Arina Puzriakova commented on Region: ISCA-37408-Loss
Severe microcephaly v3.7 ISCA-37408-Loss Arina Puzriakova commented on Region: ISCA-37408-Loss
Intellectual disability v4.55 ISCA-37408-Loss Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Paediatric motor neuronopathies v2.7 ISCA-37408-Loss Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Severe microcephaly v3.7 ISCA-37408-Loss Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Congenital myopathy v3.122 ISCA-37408-Loss Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Congenital myopathy v3.121 ISCA-37408-Loss Arina Puzriakova commented on Region: ISCA-37408-Loss
Hereditary spastic paraplegia, adult onset v2.11 SPTAN1 Achchuthan Shanmugasundram Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, adult onset v2.10 SPTAN1 Achchuthan Shanmugasundram Publications for gene: SPTAN1 were set to 18065176; 20493457; 22656320; 35150594; 36331550
Hereditary spastic paraplegia, adult onset v2.9 SPTAN1 Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies.

OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.

In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP.
Sources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) reported with spastic paraplegia and supported by functional studies. Both autosomal dominant and autosomal recessive variants of this gene are implicated in spastic paraplegia and at least three cases are reported for both disorders.

Autosomal dominant disorder:

OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.

In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP.

Autosomal recessive disorder:

PMID:31515523 reported two cases of juvenile/ adult-onset spastic paraplegia caused by compound heterozygous variants (p.Ala858Ser/ p.Ala1428Gly & p.Ala858Ser/ Met2330Ile). PMID:34526651 reported a female patient with juvenile/ adult-onset spastic paraplegia and was identified with homozygous missense variant p.Ile1388Val.
Sources: Literature
Hereditary spastic paraplegia, adult onset v2.9 SPTAN1 Achchuthan Shanmugasundram edited their review of gene: SPTAN1: Changed publications to: 18065176, 20493457, 22656320, 31515523, 34526651, 35150594, 36331550; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v3.38 NPTX1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: NPTX1.
Ataxia and cerebellar anomalies - childhood onset v3.38 NPTX1 Achchuthan Shanmugasundram Phenotypes for gene: NPTX1 were changed from Ataxia to Spinocerebellar ataxia 50, OMIM:620158
Ataxia and cerebellar anomalies - childhood onset v3.37 NPTX1 Achchuthan Shanmugasundram Publications for gene: NPTX1 were set to 34788392; 35285082; 35560436
Ataxia and cerebellar anomalies - childhood onset v3.36 NPTX1 Achchuthan Shanmugasundram Classified gene: NPTX1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - childhood onset v3.36 NPTX1 Achchuthan Shanmugasundram Gene: nptx1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - childhood onset v3.35 NPTX1 Achchuthan Shanmugasundram reviewed gene: NPTX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34788392, 35285082, 35288776, 35560436; Phenotypes: Spinocerebellar ataxia 50, OMIM:620158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia, adult onset v3.12 SPTAN1 Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence)
Hereditary ataxia, adult onset v3.12 SPTAN1 Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia, adult onset v3.11 SPTAN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SPTAN1.
Hereditary ataxia, adult onset v3.11 SPTAN1 Achchuthan Shanmugasundram gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 33790315; 35150594; 36331550; 36408834
Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064
Review for gene: SPTAN1 was set to GREEN
Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with adult-onset ataxia and was also supported by functional studies including results from mouse model.

Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, four unrelated patients displaying p.Lys2083del variant were reported with cerebellar ataxia, of these two had early-onset, one had juvenile-onset and one had adult-onset.

In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (from three families) were presented with complex HA/HSP and two were presented with pure HA. The two patients presented with pure ataxia had adult-onset.

A 33-year old Korean woman identified with SPTAN1 variant (p.Lys2083del) was reported with cerebellar ataxia in PMID:36408834, being the first reported case of SPTAN1-related cerebellar ataxia.

In addition, a strain of C57BL/6J mice harbouring a single point mutation in Sptan1 (c.3293G > A/ p.Arg1098Gln) with reduced CaM affinity and intrinsically enhanced sensitivity to calpain proteolysis was reported in PMID:33790315. Homozygotes are embryonically lethal and heterozygotes develop a progressive ataxia.
Sources: Literature
Hereditary spastic paraplegia, childhood onset v3.12 SPTAN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SPTAN1.
Hereditary spastic paraplegia, childhood onset v3.12 SPTAN1 Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v3.12 SPTAN1 Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v3.11 SPTAN1 Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence.
Sources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence (2 cases with congenital, 11 with childhood and 2 with adolescence-onset).
Sources: Literature
Hereditary spastic paraplegia, childhood onset v3.11 SPTAN1 Achchuthan Shanmugasundram gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 20493457; 22656320; 35150594
Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064
Review for gene: SPTAN1 was set to GREEN
Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence.
Sources: Literature
Congenital muscular dystrophy v3.95 SYNE2 Arina Puzriakova Source was removed from SYNE2.
Congenital muscular dystrophy v3.94 DAG1 Arina Puzriakova Source was removed from DAG1.
Congenital myopathy v3.121 ZC4H2 Arina Puzriakova Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Congenital myopathy v3.120 YARS2 Arina Puzriakova Phenotypes for gene: YARS2 were changed from Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 to Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
Congenital myopathy v3.119 VPS33B Arina Puzriakova Phenotypes for gene: VPS33B were changed from vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Congenital myopathy v3.118 VMA21 Arina Puzriakova Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to Myopathy, X-linked, with excessive autophagy, OMIM:310440
Congenital myopathy v3.117 VCP Arina Puzriakova Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
Hereditary spastic paraplegia, adult onset v2.9 SPTAN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SPTAN1.
Hereditary spastic paraplegia, adult onset v2.9 SPTAN1 Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, adult onset v2.9 SPTAN1 Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, adult onset v2.8 SPTAN1 Achchuthan Shanmugasundram gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 18065176; 20493457; 22656320; 35150594; 36331550
Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064
Review for gene: SPTAN1 was set to GREEN
Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with spastic paraplegia and supported by functional studies.

OMIM reports Developmental and epileptic encephalopathy 5 (OMIM #613477) as a phenotype for SPTAN1 variants. Spastic quadriplegia is one of the clinical manifestations that has been reported as part of this phenotype.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia, while it has also been reported in one year old male from PMID:22656320 and two patients from PMID:18065176. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.

In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (three families) were presented with complex HA/HSP, two were presented with complex HSP and one with pure HSP.
Sources: Literature
Congenital myopathy v3.116 UNC45B Arina Puzriakova Phenotypes for gene: UNC45B were changed from Myofibrillar myopathy 11, OMIM:619178; myofibrillar myopathy 11, MONDO:0030927 to Myofibrillar myopathy 11, OMIM:619178
Ataxia and cerebellar anomalies - childhood onset v3.35 SPTAN1 Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with ataxia and was also supported by functional studies including results from mouse model.

One patient each was identified with SPTAN1 variants and was reported with ataxia from PMID:29050398 and PMID:30548380. Out of three patients identified with SPTAN1 variants and reported with Developmental and epileptic encephalopathy 5 in PMID:34590414, one patient had ataxia and another had mild ataxia. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, four unrelated patients displaying p.Lys2083del variant were reported with cerebellar ataxia, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.

In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, 3 were presented with complex HA/HSP and two were presented with pure HA.

A 33-year old Korean woman identified with SPTAN1 variant was reported with cerebellar ataxia in PMID:36408834, being the first reported case of SPTAN1-related cerebellar ataxia.

In addition, a strain of C57BL/6J mice harbouring a single point mutation in Sptan1 (c.3293G > A/ p.Arg1098Gln) with reduced CaM affinity and intrinsically enhanced sensitivity to calpain proteolysis was reported in PMID:33790315. Homozygotes are embryonically lethal and heterozygotes develop a progressive ataxia.; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (many more than three cases identified with different variants) from multiple ethnicities reported with ataxia and was also supported by functional studies including results from mouse model.

One patient each was identified with SPTAN1 variants and was reported with ataxia from PMID:29050398 and PMID:30548380. Out of three patients identified with SPTAN1 variants and reported with Developmental and epileptic encephalopathy 5 in PMID:34590414, one patient had ataxia and another had mild ataxia. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, four unrelated patients displaying p.Lys2083del variant were reported with cerebellar ataxia, while three other patients displaying other variants (p.Arg1624Cys, p.Arg1098Cys & p.Gln2205Pro) displayed different extremes of spastic ataxia spectrum.

In PMID:36331550, authors carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Statistically significant enrichment of rare probably damaging SPTAN1 variants were identified in families with hereditary ataxia (HA) or spastic paraplegia (HSP). Out of 31 individuals identified with SPTAN1 variants, five (from three families) were presented with complex HA/HSP and two were presented with pure HA.

A 33-year old Korean woman identified with SPTAN1 variant was reported with cerebellar ataxia in PMID:36408834, being the first reported case of SPTAN1-related cerebellar ataxia.

In addition, a strain of C57BL/6J mice harbouring a single point mutation in Sptan1 (c.3293G > A/ p.Arg1098Gln) with reduced CaM affinity and intrinsically enhanced sensitivity to calpain proteolysis was reported in PMID:33790315. Homozygotes are embryonically lethal and heterozygotes develop a progressive ataxia.
Congenital myopathy v3.115 TTN Arina Puzriakova Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy, 611705 to Salih myopathy, OMIM:611705
Congenital myopathy v3.114 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 to Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
Congenital myopathy v3.113 TRDN Arina Puzriakova Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441
Congenital muscular dystrophy v3.93 TRAPPC11 Arina Puzriakova Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Congenital myopathy v3.112 TPM3 Arina Puzriakova Phenotypes for gene: TPM3 were changed from CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284 to CAP myopathy 1, OMIM:609284; Myopathy, congenital, with fiber-type disproportion, OMIM:255310; Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
Congenital myopathy v3.111 TPM2 Arina Puzriakova Phenotypes for gene: TPM2 were changed from CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Congenital myopathy, MONDO:0019952; Multiple pterygium syndrome, MONDO:0017415 to CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285
Congenital myopathy v3.110 TPM2 Arina Puzriakova Tag watchlist_moi tag was added to gene: TPM2.
Congenital myopathy v3.110 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750 to Arthrogryposis, distal, type 2B2, OMIM:618435
Congenital myopathy v3.109 TNNT1 Arina Puzriakova Publications for gene: TNNT1 were set to 26296490; 25430424
Congenital myopathy v3.108 TNNT1 Arina Puzriakova Phenotypes for gene: TNNT1 were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 5, Amish type, 605355 to Nemaline myopathy 5, Amish type, OMIM:605355
Congenital myopathy v3.107 TNNI2 Arina Puzriakova Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B1, OMIM:601680
Congenital myopathy v3.106 TNNC2 Arina Puzriakova Phenotypes for gene: TNNC2 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161
Congenital muscular dystrophy v3.92 TMEM5 Arina Puzriakova Source was removed from TMEM5.
Congenital muscular dystrophy v3.91 TMEM43 Arina Puzriakova Source was removed from TMEM43.
Congenital muscular dystrophy v3.91 TMEM5 Arina Puzriakova Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Congenital muscular dystrophy v3.90 TMEM43 Arina Puzriakova Phenotypes for gene: TMEM43 were changed from Emery-Dreifuss muscular dystrophy 7, AD 614302 to Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302
Unexplained death in infancy and sudden unexplained death in childhood v3.38 Eleanor Williams Panel status changed from internal to public
Congenital myopathy v3.105 TIA1 Arina Puzriakova Phenotypes for gene: TIA1 were changed from Welander distal myopathy, 604454 to Welander distal myopathy, OMIM:604454
Congenital muscular dystrophy v3.89 TCAP Arina Puzriakova Source was removed from TCAP.
Congenital muscular dystrophy v3.88 TCAP Arina Puzriakova Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
Congenital muscular dystrophy v3.87 SYNE2 Arina Puzriakova Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
Ataxia and cerebellar anomalies - childhood onset v3.35 SPTAN1 Achchuthan Shanmugasundram Phenotypes for gene: SPTAN1 were changed from Ataxia; hereditary spastic paraplegia to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064
Ataxia and cerebellar anomalies - childhood onset v3.34 SPTAN1 Achchuthan Shanmugasundram Publications for gene: SPTAN1 were set to 36331550; 35150594
Ataxia and cerebellar anomalies - childhood onset v3.33 SPTAN1 Achchuthan Shanmugasundram edited their review of gene: SPTAN1: Changed phenotypes to: Developmental and epileptic encephalopathy 5, OMIM:613477, Cerebellar ataxia, MONDO:0000437, Hereditary spastic paraplegia, MONDO:0019064
Ataxia and cerebellar anomalies - childhood onset v3.33 SPTAN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SPTAN1.
Ataxia and cerebellar anomalies - childhood onset v3.33 SPTAN1 Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - childhood onset v3.33 SPTAN1 Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - childhood onset v3.32 SPTAN1 Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050398, 30548380, 33790315, 34590414, 35150594, 36331550, 36408834; Phenotypes: Developmental and epileptic encephalopathy 5, OMIM:613477, Cerebellar ataxia, MONDO:0000437; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v3.86 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998; complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998; Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
Congenital myopathy v3.104 SVIL Arina Puzriakova Phenotypes for gene: SVIL were changed from Myopathy to Myofibrillar myopathy 10, OMIM:619040
Congenital myopathy v3.103 STIM2 Arina Puzriakova Mode of inheritance for gene: STIM2 was changed from to Unknown
Congenital myopathy v3.102 STIM1 Arina Puzriakova Phenotypes for gene: STIM1 were changed from Myopathy, tubular aggregate, 160565 to Myopathy, tubular aggregate, 1, OMIM:160565
Congenital myopathy v3.101 STAC3 Arina Puzriakova Phenotypes for gene: STAC3 were changed from Myopathy, congenital, Baily-Bloch, 255995 to Myopathy, congenital, Baily-Bloch, OMIM:255995
Congenital myopathy v3.100 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from Nemaline myopathy to Nemaline myopathy, MONDO:0018958
Congenital myopathy v3.99 SPTBN4 Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: SPTBN4.
Congenital myopathy v3.99 SPTBN4 Arina Puzriakova Publications for gene: SPTBN4 were set to 28540413; 29861105; 33772159
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Classified gene: SPTBN4 as Amber List (moderate evidence)
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Added comment: Comment on list classification: Overall there is evidence to support inclusion of this gene with a green rating on this panel. Given the phenotype features severe muscular hypotonia and weakness with relevant age of onset, it is plausible that patients may be tested under the congenital myopathy clinical indication.
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Gene: sptbn4 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v3.97 SPTBN4 Arina Puzriakova reviewed gene: SPTBN4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v3.97 SPTBN4 Arina Puzriakova Publications for gene: SPTBN4 were set to 28540413
Congenital myopathy v3.96 SPTBN4 Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from ?Myopathy, congenital, with neuropathy and deafness, 617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Congenital myopathy v3.95 SPEG Arina Puzriakova Publications for gene: SPEG were set to PMID 25087613
Congenital myopathy v3.94 SPEG Arina Puzriakova Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5 615959 to Centronuclear myopathy 5, OMIM:615959
Congenital muscular dystrophy v3.85 SMCHD1 Arina Puzriakova Source was removed from SMCHD1.
Mode of inheritance for gene SMCHD1 was changed from to Other
Congenital muscular dystrophy v3.84 SMCHD1 Arina Puzriakova Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901
Congenital myopathy v3.93 SLC25A4 Arina Puzriakova Publications for gene: SLC25A4 were set to PMID:25732997; 27693233
Congenital myopathy v3.92 SLC25A4 Arina Puzriakova Phenotypes for gene: SLC25A4 were changed from itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Congenital muscular dystrophy v3.83 SIL1 Arina Puzriakova Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome, 248800 to Marinesco-Sjogren syndrome, OMIM:248800
Congenital myopathy v3.91 SELENON Arina Puzriakova Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310
Congenital myopathy v3.90 SELENON Arina Puzriakova Publications for gene: SELENON were set to 26780752; 16365872
Congenital myopathy v3.89 SCN4A Arina Puzriakova Phenotypes for gene: SCN4A were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Congenital myopathy v3.88 RYR3 Arina Puzriakova Phenotypes for gene: RYR3 were changed from childhood-onset nemaline myopathy to Nemaline myopathy, MONDO:0018958
Congenital myopathy v3.87 RYR1 Arina Puzriakova Phenotypes for gene: RYR1 were changed from Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600 to Central core disease, OMIM:117000; Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000; Minicore myopathy with external ophthalmoplegia, OMIM:255320; King-Denborough syndrome, OMIM:619542
Congenital myopathy v3.86 PYROXD1 Arina Puzriakova Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization to Myopathy, myofibrillar, 8, OMIM:617258
Congenital myopathy v3.85 PUS1 Arina Puzriakova Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia to Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462
Congenital myopathy v3.84 PPA2 Arina Puzriakova Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile, 617222 to Sudden cardiac failure, infantile, OMIM:617222
Congenital muscular dystrophy v3.82 POMT2 Arina Puzriakova Source was removed from POMT2.
Congenital muscular dystrophy v3.81 POMT2 Arina Puzriakova Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156
Congenital muscular dystrophy v3.80 POMT1 Arina Puzriakova Source was removed from POMT1.
Congenital muscular dystrophy v3.79 POMT1 Arina Puzriakova Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308
Congenital muscular dystrophy v3.78 POMK Arina Puzriakova Source was removed from POMK.
Congenital muscular dystrophy v3.77 POMK Arina Puzriakova Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Congenital muscular dystrophy v3.76 POMGNT2 Arina Puzriakova Source was removed from POMGNT2.
Congenital muscular dystrophy v3.75 POMGNT2 Arina Puzriakova Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
Congenital muscular dystrophy v3.74 POMGNT1 Arina Puzriakova Source was removed from POMGNT1.
Congenital muscular dystrophy v3.73 POMGNT1 Arina Puzriakova Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151
Congenital muscular dystrophy v3.72 POGLUT1 Arina Puzriakova Phenotypes for gene: POGLUT1 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 to Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232
Congenital myopathy v3.83 PNPLA2 Arina Puzriakova Phenotypes for gene: PNPLA2 were changed from Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717 to Neutral lipid storage disease with myopathy, OMIM:610717
Congenital muscular dystrophy v3.71 PLEC Arina Puzriakova Source was removed from PLEC.
Congenital myopathy v3.82 PIEZO2 Arina Puzriakova Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146 to Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146
Congenital myopathy v3.81 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578 to Myopathy, congenital, progressive, with scoliosis, OMIM:618578
Congenital muscular dystrophy v3.70 PABPN1 Arina Puzriakova Source was removed from PABPN1.
Congenital muscular dystrophy v3.69 PABPN1 Arina Puzriakova Phenotypes for gene: PABPN1 were changed from Oculopharyngeal muscular dystrophy, 164300; Oculopharyngeal muscular dystrophy to Oculopharyngeal muscular dystrophy, OMIM:164300
Ataxia and cerebellar anomalies - childhood onset v3.32 CAPRIN1 Achchuthan Shanmugasundram Phenotypes for gene: CAPRIN1 were changed from Infantile-onset ataxia to Cerebellar ataxia, MONDO:0000437; Early-onset ataxia
Ataxia and cerebellar anomalies - childhood onset v3.31 CAPRIN1 Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - childhood onset v3.31 CAPRIN1 Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - childhood onset v3.30 CAPRIN1 Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Amber as the two confirmed patients were identified with the same variant, despite additional functional evidence.

PMID:36136249 reports two unrelated cases with early-onset ataxia – one with Turkish and another with Italian descent. Both harboured the same heterozygous variant c.1535C>T (p.Pro512Leu). The authors also mention that they were notified by GeneMatcher of a 14 years old female patient with exactly the same de-novo variant and an identical phenotype (cerebellar atrophy, ataxia and motor > sensory axonal neuropathy) as the other two patients.

In silico analyses predict an increased aggregation propensity of the mutated protein. Overexpression of CAPRIN1 protein harbouring P512L variant forms insoluble aggregates and sequester ataxia-related proteins. CAPRIN1 with P512L variant in isogenic iPSC-derived cortical neurons causes reduced neuronal activity and altered stress granule dynamics.

These functional evidences also suggest a gain-of-function mechanism for P512L variant.; to: Comment on classification: This gene should be rated Amber as the two confirmed patients were identified with the same variant, despite additional functional evidence. The 'watchlist' tag has been added to look out for new evidence in order to promote this gene to green.

PMID:36136249 reports two unrelated cases with early-onset ataxia – one with Turkish and another with Italian descent. Both harboured the same heterozygous variant c.1535C>T (p.Pro512Leu). The authors also mention that they were notified by GeneMatcher of a 14 years old female patient with exactly the same de-novo variant and an identical phenotype (cerebellar atrophy, ataxia and motor > sensory axonal neuropathy) as the other two patients.

In silico analyses predict an increased aggregation propensity of the mutated protein. Overexpression of CAPRIN1 protein harbouring P512L variant forms insoluble aggregates and sequester ataxia-related proteins. CAPRIN1 with P512L variant in isogenic iPSC-derived cortical neurons causes reduced neuronal activity and altered stress granule dynamics.

These functional evidences also suggest a gain-of-function mechanism for P512L variant.
Ataxia and cerebellar anomalies - childhood onset v3.30 CAPRIN1 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: CAPRIN1.
Ataxia and cerebellar anomalies - childhood onset v3.30 CAPRIN1 Achchuthan Shanmugasundram reviewed gene: CAPRIN1: Rating: AMBER; 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: 36136249; Phenotypes: Cerebellar ataxia, MONDO:0000437, Early-onset ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v3.30 COL9A3 Achchuthan Shanmugasundram commented on gene: COL9A3: 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.
Retinal disorders v3.30 COL9A3 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.30 COL11A1 Achchuthan Shanmugasundram Classified gene: COL11A1 as Green List (high evidence)
Retinal disorders v3.30 COL11A1 Achchuthan Shanmugasundram Gene: col11a1 has been classified as Green List (High Evidence).
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL11A1.
Tag Q1_23_promote_green was removed from gene: COL11A1.
Tag Q1_23_expert_review was removed from gene: COL11A1.
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram edited their review of gene: COL11A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.29 COL9A3 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A3.
Tag Q1_23_promote_green was removed from gene: COL9A3.
Tag Q1_23_expert_review was removed from gene: COL9A3.
Retinal disorders v3.29 COL9A3 Achchuthan Shanmugasundram Classified gene: COL9A3 as Green List (high evidence)
Retinal disorders v3.29 COL9A3 Achchuthan Shanmugasundram Gene: col9a3 has been classified as Green List (High Evidence).
Retinal disorders v3.28 COL9A3 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.28 COL9A3 Achchuthan Shanmugasundram edited their review of gene: COL9A3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A2.
Tag Q1_23_promote_green was removed from gene: COL9A2.
Tag Q1_23_expert_review was removed from gene: COL9A2.
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Classified gene: COL9A2 as Green List (high evidence)
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Gene: col9a2 has been classified as Green List (High Evidence).
Retinal disorders v3.27 COL9A2 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.27 COL9A2 Achchuthan Shanmugasundram edited their review of gene: COL9A2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A1.
Tag Q1_23_promote_green was removed from gene: COL9A1.
Tag Q1_23_expert_review was removed from gene: COL9A1.
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram edited their review of gene: COL9A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram Classified gene: COL9A1 as Green List (high evidence)
Retinal disorders v3.27 COL9A1 Achchuthan Shanmugasundram Gene: col9a1 has been classified as Green List (High Evidence).
Retinal disorders v3.26 COL9A1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.26 COL2A1 Achchuthan Shanmugasundram Deleted their comment
Unexplained death in infancy and sudden unexplained death in childhood v3.37 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Super Panel
Dystonia, chorea or related movement disorder, childhood onset v2.11 CACNB4 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene was proposed to be changed to Both mono and biallelic in 2022 but since there is no new evidence since it was last considered by the GMS, it has been decided to keep it as just monoallelic.
Dystonia, chorea or related movement disorder, childhood onset v2.11 CACNB4 Eleanor Williams Mode of inheritance for gene: CACNB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - childhood onset v3.30 TGM6 Eleanor Williams Tag Q2_21_rating was removed from gene: TGM6.
Tag Q2_21_expert_review was removed from gene: TGM6.
Ataxia and cerebellar anomalies - childhood onset v3.30 SPG7 Eleanor Williams Tag Q3_22_rating was removed from gene: SPG7.
Tag Q3_22_expert_review was removed from gene: SPG7.
Ataxia and cerebellar anomalies - childhood onset v3.30 XRCC1 Eleanor Williams Tag Q2_21_rating was removed from gene: XRCC1.
Ataxia and cerebellar anomalies - childhood onset v3.30 UCHL1 Eleanor Williams Tag Q2_21_rating was removed from gene: UCHL1.
Ataxia and cerebellar anomalies - childhood onset v3.30 UBTF Eleanor Williams Tag Q2_21_rating was removed from gene: UBTF.
Ataxia and cerebellar anomalies - childhood onset v3.30 TDP2 Eleanor Williams Tag Q2_21_rating was removed from gene: TDP2.
Ataxia and cerebellar anomalies - childhood onset v3.30 TBC1D23 Eleanor Williams Tag Q2_21_rating was removed from gene: TBC1D23.
Ataxia and cerebellar anomalies - childhood onset v3.30 SQSTM1 Eleanor Williams Tag Q2_21_rating was removed from gene: SQSTM1.
Ataxia and cerebellar anomalies - childhood onset v3.30 SPR Eleanor Williams Tag Q2_21_rating was removed from gene: SPR.
Ataxia and cerebellar anomalies - childhood onset v3.30 SNX14 Eleanor Williams Tag Q3_21_MOI was removed from gene: SNX14.
Ataxia and cerebellar anomalies - childhood onset v3.30 SNAP25 Eleanor Williams Tag Q2_21_rating was removed from gene: SNAP25.
Ataxia and cerebellar anomalies - childhood onset v3.30 SLC9A1 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC9A1.
Ataxia and cerebellar anomalies - childhood onset v3.30 SLC44A1 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC44A1.
Ataxia and cerebellar anomalies - childhood onset v3.30 SLC17A5 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC17A5.
Ataxia and cerebellar anomalies - childhood onset v3.30 SCYL1 Eleanor Williams Tag Q2_21_rating was removed from gene: SCYL1.
Ataxia and cerebellar anomalies - childhood onset v3.30 SCN8A Eleanor Williams Tag Q2_21_rating was removed from gene: SCN8A.
Ataxia and cerebellar anomalies - childhood onset v3.30 SCN1A Eleanor Williams Tag Q2_21_rating was removed from gene: SCN1A.
Ataxia and cerebellar anomalies - childhood onset v3.30 SAR1B Eleanor Williams Tag Q2_21_rating was removed from gene: SAR1B.
Ataxia and cerebellar anomalies - childhood onset v3.30 RORA Eleanor Williams Tag Q2_21_rating was removed from gene: RORA.
Ataxia and cerebellar anomalies - childhood onset v3.30 RNF220 Eleanor Williams Tag Q4_21_rating was removed from gene: RNF220.
Ataxia and cerebellar anomalies - childhood onset v3.30 PRDX3 Eleanor Williams Tag Q1_22_rating was removed from gene: PRDX3.
Ataxia and cerebellar anomalies - childhood onset v3.30 POU4F1 Eleanor Williams Tag Q2_21_rating was removed from gene: POU4F1.
Ataxia and cerebellar anomalies - childhood onset v3.30 POLR3B Eleanor Williams Tag Q2_21_rating was removed from gene: POLR3B.
Ataxia and cerebellar anomalies - childhood onset v3.30 PMPCB Eleanor Williams Tag Q2_21_rating was removed from gene: PMPCB.
Ataxia and cerebellar anomalies - childhood onset v3.30 PITRM1 Eleanor Williams Tag Q2_21_rating was removed from gene: PITRM1.
Ataxia and cerebellar anomalies - childhood onset v3.30 PI4KA Eleanor Williams Tag Q3_21_rating was removed from gene: PI4KA.
Ataxia and cerebellar anomalies - childhood onset v3.30 PEX6 Eleanor Williams Tag Q2_22_rating was removed from gene: PEX6.
Ataxia and cerebellar anomalies - childhood onset v3.30 OPA1 Eleanor Williams Tag Q2_21_rating was removed from gene: OPA1.
Ataxia and cerebellar anomalies - childhood onset v3.30 NKX2-1 Eleanor Williams Tag Q2_21_rating was removed from gene: NKX2-1.
Ataxia and cerebellar anomalies - childhood onset v3.30 NAXE Eleanor Williams Tag Q2_21_rating was removed from gene: NAXE.
Ataxia and cerebellar anomalies - childhood onset v3.30 MVK Eleanor Williams Tag Q2_21_rating was removed from gene: MVK.
Ataxia and cerebellar anomalies - childhood onset v3.30 MTFMT Eleanor Williams Tag Q2_21_rating was removed from gene: MTFMT.
Ataxia and cerebellar anomalies - childhood onset v3.30 MTCL1 Eleanor Williams Tag Q2_21_rating was removed from gene: MTCL1.
Ataxia and cerebellar anomalies - childhood onset v3.30 MSTO1 Eleanor Williams Tag Q2_21_rating was removed from gene: MSTO1.
Ataxia and cerebellar anomalies - childhood onset v3.30 MINPP1 Eleanor Williams Tag Q2_21_rating was removed from gene: MINPP1.
Ataxia and cerebellar anomalies - childhood onset v3.30 MAPK8IP3 Eleanor Williams Tag Q4_21_rating was removed from gene: MAPK8IP3.
Ataxia and cerebellar anomalies - childhood onset v3.30 LAMA1 Eleanor Williams Tag Q2_21_rating was removed from gene: LAMA1.
Ataxia and cerebellar anomalies - childhood onset v3.30 KIF1A Eleanor Williams Tag Q3_21_rating was removed from gene: KIF1A.
Ataxia and cerebellar anomalies - childhood onset v3.30 KCNN2 Eleanor Williams Tag Q2_21_rating was removed from gene: KCNN2.
Ataxia and cerebellar anomalies - childhood onset v3.30 KCNA2 Eleanor Williams Tag Q2_21_rating was removed from gene: KCNA2.
Ataxia and cerebellar anomalies - childhood onset v3.30 IRF2BPL Eleanor Williams Tag Q2_21_rating was removed from gene: IRF2BPL.
Ataxia and cerebellar anomalies - childhood onset v3.30 GEMIN5 Eleanor Williams Tag Q2_21_rating was removed from gene: GEMIN5.
Ataxia and cerebellar anomalies - childhood onset v3.30 FBXL4 Eleanor Williams Tag Q2_21_rating was removed from gene: FBXL4.
Ataxia and cerebellar anomalies - childhood onset v3.30 FA2H Eleanor Williams Tag Q2_21_rating was removed from gene: FA2H.
Ataxia and cerebellar anomalies - childhood onset v3.30 EBF3 Eleanor Williams Tag Q2_21_rating was removed from gene: EBF3.
Ataxia and cerebellar anomalies - childhood onset v3.30 DPYSL5 Eleanor Williams Tag Q3_21_rating was removed from gene: DPYSL5.
Ataxia and cerebellar anomalies - childhood onset v3.30 DOCK3 Eleanor Williams Tag Q2_21_rating was removed from gene: DOCK3.
Ataxia and cerebellar anomalies - childhood onset v3.30 DHDDS Eleanor Williams Tag Q4_21_rating was removed from gene: DHDDS.
Ataxia and cerebellar anomalies - childhood onset v3.30 CSTB Eleanor Williams Tag Q2_21_rating was removed from gene: CSTB.
Ataxia and cerebellar anomalies - childhood onset v3.30 COA7 Eleanor Williams Tag Q2_21_rating was removed from gene: COA7.
Ataxia and cerebellar anomalies - childhood onset v3.30 CLP1 Eleanor Williams Tag Q2_21_rating was removed from gene: CLP1.
Ataxia and cerebellar anomalies - childhood onset v3.30 CLN5 Eleanor Williams Tag Q2_21_rating was removed from gene: CLN5.
Ataxia and cerebellar anomalies - childhood onset v3.30 CLCN2 Eleanor Williams Tag Q4_21_MOI was removed from gene: CLCN2.
Ataxia and cerebellar anomalies - childhood onset v3.30 CAD Eleanor Williams Tag Q2_21_rating was removed from gene: CAD.
Ataxia and cerebellar anomalies - childhood onset v3.30 BBS1 Eleanor Williams Tag Q2_21_rating was removed from gene: BBS1.
Ataxia and cerebellar anomalies - childhood onset v3.30 B4GAT1 Eleanor Williams Tag Q3_21_rating was removed from gene: B4GAT1.
Ataxia and cerebellar anomalies - childhood onset v3.30 ATP8A2 Eleanor Williams Tag Q2_21_rating was removed from gene: ATP8A2.
Ataxia and cerebellar anomalies - childhood onset v3.30 ATAD3A Eleanor Williams Tag Q2_21_rating was removed from gene: ATAD3A.
Ataxia and cerebellar anomalies - childhood onset v3.30 ALDH5A1 Eleanor Williams Tag Q3_21_rating was removed from gene: ALDH5A1.
Ataxia and cerebellar anomalies - childhood onset v3.30 ADPRHL2 Eleanor Williams Tag Q2_21_rating was removed from gene: ADPRHL2.
Ataxia and cerebellar anomalies - childhood onset v3.30 ACO2 Eleanor Williams Tag Q2_21_rating was removed from gene: ACO2.
Tag Q2_22_MOI was removed from gene: ACO2.
Ataxia and cerebellar anomalies - childhood onset v3.30 ABCB7 Eleanor Williams Tag Q3_21_MOI was removed from gene: ABCB7.
Ataxia and cerebellar anomalies - childhood onset v3.30 STUB1 Eleanor Williams Tag Q3_22_MOI was removed from gene: STUB1.
Ataxia and cerebellar anomalies - childhood onset v3.30 PRDM13 Eleanor Williams Tag Q3_22_rating was removed from gene: PRDM13.
Ataxia and cerebellar anomalies - childhood onset v3.30 OGDHL Eleanor Williams Tag Q3_22_rating was removed from gene: OGDHL.
Ataxia and cerebellar anomalies - childhood onset v3.30 CYP2U1 Eleanor Williams Tag Q3_22_rating was removed from gene: CYP2U1.
Tag Q3_22_expert_review was removed from gene: CYP2U1.
Ataxia and cerebellar anomalies - childhood onset v3.30 CACNA1A Eleanor Williams Tag Q3_22_MOI was removed from gene: CACNA1A.
Tag Q3_22_NHS_review was removed from gene: CACNA1A.
Ataxia and cerebellar anomalies - childhood onset v3.30 ATP6V0A1 Eleanor Williams Tag Q3_22_rating was removed from gene: ATP6V0A1.
Ataxia and cerebellar anomalies - childhood onset v3.30 ATG7 Eleanor Williams Tag Q3_22_rating was removed from gene: ATG7.
Ataxia and cerebellar anomalies - childhood onset v3.30 TGM6 Eleanor Williams reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SPG7 Eleanor Williams edited their review of gene: SPG7: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. The reviewers note that the age of onset includes under 16. Gene should be included in a diagnostic test for ataxia. At least 2 patients with age of onset of 15 years in 30588500; further 2 patients with onset 11 and 14 in 14985266.; Changed rating: GREEN
Ataxia and cerebellar anomalies - childhood onset v3.30 SAR1B Eleanor Williams commented on gene: SAR1B: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - childhood onset v3.30 CYP2U1 Eleanor Williams edited their review of gene: CYP2U1: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED
Ataxia and cerebellar anomalies - childhood onset v3.30 XRCC1 Eleanor Williams reviewed gene: XRCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 UCHL1 Eleanor Williams reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 UBTF Eleanor Williams reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 TDP2 Eleanor Williams reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 TBC1D23 Eleanor Williams reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SQSTM1 Eleanor Williams reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SPR Eleanor Williams reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SNAP25 Eleanor Williams reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SLC9A1 Eleanor Williams reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SLC44A1 Eleanor Williams reviewed gene: SLC44A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SLC17A5 Eleanor Williams reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SCYL1 Eleanor Williams reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SCN8A Eleanor Williams reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 SCN1A Eleanor Williams reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 RORA Eleanor Williams reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 RNF220 Eleanor Williams reviewed gene: RNF220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 PRDX3 Eleanor Williams reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 POU4F1 Eleanor Williams reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 POLR3B Eleanor Williams reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 PMPCB Eleanor Williams reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 PITRM1 Eleanor Williams reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 PI4KA Eleanor Williams reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 OPA1 Eleanor Williams reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 NKX2-1 Eleanor Williams reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 NAXE Eleanor Williams reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 MVK Eleanor Williams reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 MTFMT Eleanor Williams reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 MTCL1 Eleanor Williams reviewed gene: MTCL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 MSTO1 Eleanor Williams reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 MINPP1 Eleanor Williams reviewed gene: MINPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 MAPK8IP3 Eleanor Williams edited their review of gene: MAPK8IP3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Ataxia and cerebellar anomalies - childhood onset v3.30 LAMA1 Eleanor Williams reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 KIF1A Eleanor Williams reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 KCNN2 Eleanor Williams reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 KCNA2 Eleanor Williams reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 IRF2BPL Eleanor Williams reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 GEMIN5 Eleanor Williams reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 FBXL4 Eleanor Williams reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 FA2H Eleanor Williams reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 EBF3 Eleanor Williams reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 DPYSL5 Eleanor Williams reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 DOCK3 Eleanor Williams reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 DHDDS Eleanor Williams reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 CSTB Eleanor Williams reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 COA7 Eleanor Williams reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 CLP1 Eleanor Williams reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 CLN5 Eleanor Williams reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 CAD Eleanor Williams reviewed gene: CAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 BBS1 Eleanor Williams reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 B4GAT1 Eleanor Williams reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ATP8A2 Eleanor Williams reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ATAD3A Eleanor Williams reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ALDH5A1 Eleanor Williams reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ADPRHL2 Eleanor Williams reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ATP6V0A1 Eleanor Williams reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 PEX6 Eleanor Williams reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ACO2 Eleanor Williams reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 PRDM13 Eleanor Williams reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 OGDHL Eleanor Williams reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ATG7 Eleanor Williams reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - childhood onset v3.30 ABCB7 Eleanor Williams commented on gene: ABCB7
Ataxia and cerebellar anomalies - childhood onset v3.30 STUB1 Eleanor Williams commented on gene: STUB1
Ataxia and cerebellar anomalies - childhood onset v3.30 CACNA1A Eleanor Williams commented on gene: CACNA1A
Ataxia and cerebellar anomalies - childhood onset v3.30 SNX14 Eleanor Williams commented on gene: SNX14
Ataxia and cerebellar anomalies - childhood onset v3.30 CLCN2 Eleanor Williams commented on gene: CLCN2
Ataxia and cerebellar anomalies - childhood onset v3.29 TGM6 Eleanor Williams Source NHS GMS was added to TGM6.
Source Expert Review Amber was added to TGM6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 XRCC1 Eleanor Williams Source Expert Review Green was added to XRCC1.
Source NHS GMS was added to XRCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 UCHL1 Eleanor Williams Source Expert Review Green was added to UCHL1.
Source NHS GMS was added to UCHL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 UBTF Eleanor Williams Source Expert Review Green was added to UBTF.
Source NHS GMS was added to UBTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 TDP2 Eleanor Williams Source Expert Review Green was added to TDP2.
Source NHS GMS was added to TDP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 TBC1D23 Eleanor Williams Source Expert Review Green was added to TBC1D23.
Source NHS GMS was added to TBC1D23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 STUB1 Eleanor Williams Source NHS GMS was added to STUB1.
Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v3.29 SQSTM1 Eleanor Williams Source Expert Review Green was added to SQSTM1.
Source NHS GMS was added to SQSTM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SPR Eleanor Williams Source Expert Review Green was added to SPR.
Source NHS GMS was added to SPR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SNX14 Eleanor Williams Source NHS GMS was added to SNX14.
Mode of inheritance for gene SNX14 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v3.29 SNAP25 Eleanor Williams Source Expert Review Green was added to SNAP25.
Source NHS GMS was added to SNAP25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SLC9A1 Eleanor Williams Source Expert Review Green was added to SLC9A1.
Source NHS GMS was added to SLC9A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SLC44A1 Eleanor Williams Source Expert Review Green was added to SLC44A1.
Source NHS GMS was added to SLC44A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SLC17A5 Eleanor Williams Source Expert Review Green was added to SLC17A5.
Source NHS GMS was added to SLC17A5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SCYL1 Eleanor Williams Source Expert Review Green was added to SCYL1.
Source NHS GMS was added to SCYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SCN8A Eleanor Williams Source Expert Review Green was added to SCN8A.
Source NHS GMS was added to SCN8A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SCN1A Eleanor Williams Source Expert Review Green was added to SCN1A.
Source NHS GMS was added to SCN1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 SAR1B Eleanor Williams Source Expert Review Red was added to SAR1B.
Source NHS GMS was added to SAR1B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 RORA Eleanor Williams Source Expert Review Green was added to RORA.
Source NHS GMS was added to RORA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 RNF220 Eleanor Williams Source Expert Review Green was added to RNF220.
Source NHS GMS was added to RNF220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 PRDX3 Eleanor Williams Source Expert Review Green was added to PRDX3.
Source NHS GMS was added to PRDX3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 PRDM13 Eleanor Williams Source Expert Review Green was added to PRDM13.
Source NHS GMS was added to PRDM13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 POU4F1 Eleanor Williams Source Expert Review Green was added to POU4F1.
Source NHS GMS was added to POU4F1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 POLR3B Eleanor Williams Source Expert Review Green was added to POLR3B.
Source NHS GMS was added to POLR3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 PMPCB Eleanor Williams Source Expert Review Green was added to PMPCB.
Source NHS GMS was added to PMPCB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 PITRM1 Eleanor Williams Source Expert Review Green was added to PITRM1.
Source NHS GMS was added to PITRM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 PI4KA Eleanor Williams Source Expert Review Green was added to PI4KA.
Source NHS GMS was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 PEX6 Eleanor Williams Source Expert Review Green was added to PEX6.
Source NHS GMS was added to PEX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 OPA1 Eleanor Williams Source Expert Review Green was added to OPA1.
Source NHS GMS was added to OPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 OGDHL Eleanor Williams Source Expert Review Green was added to OGDHL.
Source NHS GMS was added to OGDHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 NKX2-1 Eleanor Williams Source Expert Review Green was added to NKX2-1.
Source NHS GMS was added to NKX2-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 NAXE Eleanor Williams Source Expert Review Green was added to NAXE.
Source NHS GMS was added to NAXE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 MVK Eleanor Williams Source Expert Review Green was added to MVK.
Source NHS GMS was added to MVK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 MTFMT Eleanor Williams Source Expert Review Green was added to MTFMT.
Source NHS GMS was added to MTFMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 MTCL1 Eleanor Williams Source Expert Review Green was added to MTCL1.
Source NHS GMS was added to MTCL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 MSTO1 Eleanor Williams Source Expert Review Green was added to MSTO1.
Source NHS GMS was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 MINPP1 Eleanor Williams Source Expert Review Green was added to MINPP1.
Source NHS GMS was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 MAPK8IP3 Eleanor Williams Source Expert Review Green was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 LAMA1 Eleanor Williams Source Expert Review Green was added to LAMA1.
Source NHS GMS was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 KIF1A Eleanor Williams Source Expert Review Green was added to KIF1A.
Source NHS GMS was added to KIF1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 KCNN2 Eleanor Williams Source Expert Review Green was added to KCNN2.
Source NHS GMS was added to KCNN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 KCNA2 Eleanor Williams Source Expert Review Green was added to KCNA2.
Source NHS GMS was added to KCNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 IRF2BPL Eleanor Williams Source Expert Review Green was added to IRF2BPL.
Source NHS GMS was added to IRF2BPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 GEMIN5 Eleanor Williams Source Expert Review Green was added to GEMIN5.
Source NHS GMS was added to GEMIN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 FBXL4 Eleanor Williams Source Expert Review Green was added to FBXL4.
Source NHS GMS was added to FBXL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 FA2H Eleanor Williams Source Expert Review Green was added to FA2H.
Source NHS GMS was added to FA2H.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 EBF3 Eleanor Williams Source Expert Review Green was added to EBF3.
Source NHS GMS was added to EBF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 DPYSL5 Eleanor Williams Source Expert Review Green was added to DPYSL5.
Source NHS GMS was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 DOCK3 Eleanor Williams Source Expert Review Green was added to DOCK3.
Source NHS GMS was added to DOCK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 DHDDS Eleanor Williams Source Expert Review Green was added to DHDDS.
Source NHS GMS was added to DHDDS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 CYP2U1 Eleanor Williams Source Expert Review Red was added to CYP2U1.
Source NHS GMS was added to CYP2U1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 CSTB Eleanor Williams Source Expert Review Green was added to CSTB.
Source NHS GMS was added to CSTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 COA7 Eleanor Williams Source Expert Review Green was added to COA7.
Source NHS GMS was added to COA7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 CLP1 Eleanor Williams Source Expert Review Green was added to CLP1.
Source NHS GMS was added to CLP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 CLN5 Eleanor Williams Source Expert Review Green was added to CLN5.
Source NHS GMS was added to CLN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 CLCN2 Eleanor Williams Source NHS GMS was added to CLCN2.
Mode of inheritance for gene CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v3.29 CAD Eleanor Williams Source Expert Review Green was added to CAD.
Source NHS GMS was added to CAD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 CACNA1A Eleanor Williams Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v3.29 BBS1 Eleanor Williams Source Expert Review Green was added to BBS1.
Source NHS GMS was added to BBS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 B4GAT1 Eleanor Williams Source Expert Review Green was added to B4GAT1.
Source NHS GMS was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ATP8A2 Eleanor Williams Source Expert Review Green was added to ATP8A2.
Source NHS GMS was added to ATP8A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ATP6V0A1 Eleanor Williams Source Expert Review Green was added to ATP6V0A1.
Source NHS GMS was added to ATP6V0A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ATG7 Eleanor Williams Source Expert Review Green was added to ATG7.
Source NHS GMS was added to ATG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ATAD3A Eleanor Williams Source Expert Review Green was added to ATAD3A.
Source NHS GMS was added to ATAD3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ALDH5A1 Eleanor Williams Source Expert Review Green was added to ALDH5A1.
Source NHS GMS was added to ALDH5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ADPRHL2 Eleanor Williams Source Expert Review Green was added to ADPRHL2.
Source NHS GMS was added to ADPRHL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ACO2 Eleanor Williams Source Expert Review Green was added to ACO2.
Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - childhood onset v3.29 ABCB7 Eleanor Williams Source NHS GMS was added to ABCB7.
Mode of inheritance for gene ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v3.80 ORAI1 Arina Puzriakova Phenotypes for gene: ORAI1 were changed from Myopathy, tubular aggregate, 2 615883 to Myopathy, tubular aggregate, 2, OMIM:615883
Congenital myopathy v3.79 NEFL Arina Puzriakova Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v3.78 NEB Arina Puzriakova Phenotypes for gene: NEB were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, OMIM:256030
Congenital myopathy v3.77 MYPN Arina Puzriakova Phenotypes for gene: MYPN were changed from Congenital cap myopathy; Nemaline myopathy, 617336 to Nemaline myopathy 11, autosomal recessive, OMIM:617336
Congenital myopathy v3.76 MYOT Arina Puzriakova Phenotypes for gene: MYOT were changed from Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Congenital myopathy v3.75 MYO18B Arina Puzriakova Phenotypes for gene: MYO18B were changed from Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689 to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
Congenital myopathy v3.74 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700 to Carey-Fineman-Ziter syndrome, OMIM:254940
Congenital myopathy v3.73 MYL2 Arina Puzriakova Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424
Congenital myopathy v3.72 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
Congenital myopathy v3.71 MYH3 Arina Puzriakova Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110 to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436
Congenital myopathy v3.70 MYH2 Arina Puzriakova Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 to Proximal myopathy and ophthalmoplegia, OMIM:605637
Congenital myopathy v3.69 MYH14 Arina Puzriakova Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652 to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Congenital myopathy v3.68 MYF6 Arina Puzriakova Phenotypes for gene: MYF6 were changed from Centronuclear Myopathy, Dominant; Myopathy, centronuclear, 3, 614408 to Centronuclear Myopathy, Dominant
Congenital myopathy v3.67 MYBPC3 Arina Puzriakova Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197 to Cardiomyopathy, dilated, 1MM, OMIM:615396; Cardiomyopathy, hypertrophic, 4, OMIM:115197
Congenital myopathy v3.66 MYBPC1 Arina Puzriakova Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915 to Arthrogryposis, distal, type 1B, OMIM:614335; Lethal congenital contracture syndrome 4, OMIM:614915; Myopathy, congenital, with tremor, OMIM:618524
Congenital myopathy v3.65 MTMR14 Arina Puzriakova Phenotypes for gene: MTMR14 were changed from centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150 to {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
Congenital myopathy v3.64 MT-TL1 Arina Puzriakova Phenotypes for gene: MT-TL1 were changed from MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000 to MELAS syndrome, MONDO:0010789
Congenital muscular dystrophy v3.68 MSTO1 Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 to Myopathy, mitochondrial, and ataxia, OMIM:617675
Congenital myopathy v3.63 MLIP Arina Puzriakova Phenotypes for gene: MLIP were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138
Congenital myopathy v3.62 MICU1 Arina Puzriakova Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 to Myopathy with extrapyramidal signs, OMIM:615673
Congenital myopathy v3.61 MEGF10 Arina Puzriakova Phenotypes for gene: MEGF10 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399
Congenital myopathy v3.60 MATR3 Arina Puzriakova Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21 606070 to Amyotrophic lateral sclerosis 21, OMIM:606070
Congenital myopathy v3.59 MAP3K20 Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695 to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
Congenital myopathy v3.58 LMOD3 Arina Puzriakova Publications for gene: LMOD3 were updated from PMID 25250574 to PMID 25250574
Congenital myopathy v3.57 LMOD3 Arina Puzriakova Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10 616165 to Nemaline myopathy 10, OMIM:616165
Congenital myopathy v3.56 LGI4 Arina Puzriakova Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Congenital myopathy v3.55 LDB3 Arina Puzriakova Phenotypes for gene: LDB3 were changed from Myofibrillar Myopathy, Dominant; Myopathy, myofibrillar, 4, 609452 to Myopathy, myofibrillar, 4, OMIM:609452
Congenital muscular dystrophy v3.67 LARGE1 Arina Puzriakova Source was removed from LARGE1.
Congenital muscular dystrophy v3.66 LARGE1 Arina Puzriakova Phenotypes for gene: LARGE1 were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840
Congenital myopathy v3.54 LAMP2 Arina Puzriakova Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease, 300257 to Danon disease, OMIM:300257
Congenital muscular dystrophy v3.65 LAMA2 Arina Puzriakova Source was removed from LAMA2.
Congenital muscular dystrophy v3.64 LAMA2 Arina Puzriakova Phenotypes for gene: LAMA2 were changed from Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
Congenital myopathy v3.53 KY Arina Puzriakova Phenotypes for gene: KY were changed from Myopathy, myofibrillar 7 OMIM:617114 to Myopathy, myofibrillar, 7, OMIM:617114
Congenital myopathy v3.52 KLHL41 Arina Puzriakova Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 to Nemaline myopathy 9, OMIM:615731
Congenital myopathy v3.51 KLHL40 Arina Puzriakova Phenotypes for gene: KLHL40 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy 8, autosomal recessive, OMIM:615348
Congenital myopathy v3.50 KBTBD13 Arina Puzriakova Phenotypes for gene: KBTBD13 were changed from Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273 to Nemaline myopathy 6, autosomal dominant, OMIM:609273
Congenital muscular dystrophy v3.63 JAG2 Arina Puzriakova Phenotypes for gene: JAG2 were changed from muscular dystrophy, MONDO:0020121 to Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
Congenital muscular dystrophy v3.62 ITGA7 Arina Puzriakova Source was removed from ITGA7.
Congenital muscular dystrophy v3.61 ITGA7 Arina Puzriakova Phenotypes for gene: ITGA7 were changed from Congenital Muscular Dystrophy, ITGA7-related; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 to Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204
Congenital muscular dystrophy v3.60 ISPD Arina Puzriakova Source was removed from ISPD.
Congenital muscular dystrophy v3.59 ISPD Arina Puzriakova Publications for gene: ISPD were set to 22522420, 22522421
Congenital muscular dystrophy v3.58 ISPD Arina Puzriakova Phenotypes for gene: ISPD were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
Congenital myopathy v3.49 ISCU Arina Puzriakova Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125
Congenital muscular dystrophy v3.57 INPP5K Arina Puzriakova Phenotypes for gene: INPP5K were changed from Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
Congenital myopathy v3.48 HTRA2 Arina Puzriakova Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII 617248 to 3-methylglutaconic aciduria, type VIII, OMIM:617248
Congenital myopathy v3.47 HRAS Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040 to Costello syndrome, OMIM:218040; Congenital myopathy with excess of muscle spindles, OMIM:218040
Congenital myopathy v3.46 HNRNPA2B1 Arina Puzriakova Tag watchlist was removed from gene: HNRNPA2B1.
Congenital muscular dystrophy v3.56 HNRNPA2B1 Arina Puzriakova Phenotypes for gene: HNRNPA2B1 were changed from early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Congenital muscular dystrophy v3.55 HNRNPA2B1 Arina Puzriakova Tag watchlist was removed from gene: HNRNPA2B1.
Congenital myopathy v3.46 HNRNPA1 Arina Puzriakova Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Congenital myopathy v3.45 HACD1 Arina Puzriakova Phenotypes for gene: HACD1 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, nonprogressive, OMIM:619967
Congenital muscular dystrophy v3.55 GOSR2 Arina Puzriakova Phenotypes for gene: GOSR2 were changed from Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan to Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Congenital myopathy v3.44 GNE Arina Puzriakova Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, OMIM:605820
Congenital muscular dystrophy v3.54 GMPPB Arina Puzriakova Source was removed from GMPPB.
Congenital muscular dystrophy v3.53 GMPPB Arina Puzriakova Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352
Congenital myopathy v3.43 GFER Arina Puzriakova Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Congenital myopathy v3.42 FXR1 Arina Puzriakova Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822 to Myopathy, congenital proximal, with minicore lesions, OMIM:618823; Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822
Congenital myopathy v3.41 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289 to Myopathy, distal, 4, OMIM:614065; Myopathy, myofibrillar, 5, OMIM:609524
Congenital muscular dystrophy v3.52 FKTN Arina Puzriakova Source was removed from FKTN.
Congenital muscular dystrophy v3.51 FKTN Arina Puzriakova Phenotypes for gene: FKTN were changed from Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588
Congenital muscular dystrophy v3.50 FKRP Arina Puzriakova Source was removed from FKRP.
Congenital muscular dystrophy v3.49 FKRP Arina Puzriakova Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153; Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612
Congenital myopathy v3.40 FKBP14 Arina Puzriakova Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Congenital muscular dystrophy v3.48 FHL1 Arina Puzriakova Phenotypes for gene: FHL1 were changed from Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717
Congenital myopathy v3.39 FAM111B Arina Puzriakova Phenotypes for gene: FAM111B were changed from Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704
Congenital myopathy v3.38 EPG5 Arina Puzriakova Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vici syndrome, OMIM:242840
Congenital muscular dystrophy v3.47 EMD Arina Puzriakova Source was removed from EMD.
Congenital muscular dystrophy v3.46 EMD Arina Puzriakova Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300
Congenital myopathy v3.37 ECEL1 Arina Puzriakova Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D, 615065 to Arthrogryposis, distal, type 5D, OMIM:615065
Congenital muscular dystrophy v3.45 DYSF Arina Puzriakova Source was removed from DYSF.
Congenital muscular dystrophy v3.44 DYSF Arina Puzriakova Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601; Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130 to Miyoshi muscular dystrophy 1, OMIM:254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Myopathy, distal, with anterior tibial onset, OMIM:606768
Congenital muscular dystrophy v3.43 DUX4 Arina Puzriakova Source was removed from DUX4.
Congenital muscular dystrophy v3.42 DUX4 Arina Puzriakova Mode of inheritance for gene: DUX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v3.41 DPM3 Arina Puzriakova Source was removed from DPM3.
Congenital muscular dystrophy v3.40 DPM3 Arina Puzriakova Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; DPM3-congenital disorder of glycosylation, MONDO:0013049; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
Congenital muscular dystrophy v3.39 DPM2 Arina Puzriakova Source was removed from DPM2.
Congenital muscular dystrophy v3.38 DPM1 Arina Puzriakova Source was removed from DPM1.
Congenital muscular dystrophy v3.37 DOLK Arina Puzriakova Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, OMIM:610768
Congenital myopathy v3.36 DOK7 Arina Puzriakova Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300 to Fetal akinesia deformation sequence 3, OMIM:618389; Myasthenic syndrome, congenital, 10, OMIM:254300
Congenital myopathy v3.35 DNM2 Arina Puzriakova Phenotypes for gene: DNM2 were changed from Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Centronuclear myopathy 1, OMIM:160150
Congenital myopathy v3.34 DNAJB6 Arina Puzriakova Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511 to Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511
Congenital muscular dystrophy v3.36 DMD Arina Puzriakova Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, OMIM:310200
Congenital myopathy v3.33 DHX16 Arina Puzriakova Phenotypes for gene: DHX16 were changed from Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 to Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733
Congenital myopathy v3.32 DES Arina Puzriakova Phenotypes for gene: DES were changed from Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 to Myopathy, myofibrillar, 1, OMIM:601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
Congenital muscular dystrophy v3.35 DAG1 Arina Puzriakova Phenotypes for gene: DAG1 were changed from congenital muscular dystrophies; congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Congenital myopathy v3.31 COL6A2 Arina Puzriakova Phenotypes for gene: COL6A2 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Congenital muscular dystrophy v3.34 COL6A1 Arina Puzriakova Source was removed from COL6A1.
Congenital muscular dystrophy v3.33 COL4A2 Arina Puzriakova Mode of inheritance for gene: COL4A2 was changed from to Unknown
Congenital muscular dystrophy v3.32 COL4A1 Arina Puzriakova Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780 to Walker Warburg Syndrome
Congenital muscular dystrophy v3.31 CHKB Arina Puzriakova Source was removed from CHKB.
Congenital muscular dystrophy v3.30 CHKB Arina Puzriakova Publications for gene: CHKB were set to 16371353, 21665002
Congenital muscular dystrophy v3.29 CHKB Arina Puzriakova Phenotypes for gene: CHKB were changed from Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541 to Muscular dystrophy, congenital, megaconial type, OMIM:602541
Congenital myopathy v3.30 CHCHD10 Arina Puzriakova Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048 to Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911; Spinal muscular atrophy, Jokela type, OMIM:615048
Congenital myopathy v3.29 CFL2 Arina Puzriakova Publications for gene: CFL2 were set to 22560515; 17160903; 24610938
Congenital myopathy v3.28 CFL2 Arina Puzriakova Phenotypes for gene: CFL2 were changed from Nemaline myopathy 7, autosomal recessive, 610687; Nemaline Myopathy, Recessive to Nemaline myopathy 7, autosomal recessive, OMIM:610687
Congenital myopathy v3.27 CCDC78 Arina Puzriakova Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, OMIM:614807
Congenital myopathy v3.26 CAV3 Arina Puzriakova Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321
Congenital myopathy v3.25 CASQ1 Arina Puzriakova Mode of inheritance for gene: CASQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v3.24 CASQ1 Arina Puzriakova Publications for gene: CASQ1 were set to 25116801
Congenital myopathy v3.23 CASQ1 Arina Puzriakova Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Congenital myopathy v3.22 CACNA1S Arina Puzriakova Phenotypes for gene: CACNA1S were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Congenital myopathy v3.21 BIN1 Arina Puzriakova Publications for gene: BIN1 were set to
Congenital myopathy v3.20 BIN1 Arina Puzriakova Phenotypes for gene: BIN1 were changed from Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200 to Centronuclear myopathy 2, OMIM:255200
Congenital myopathy v3.19 BAG3 Arina Puzriakova Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6, 612954 to Myopathy, myofibrillar, 6, OMIM:612954
Congenital muscular dystrophy v3.28 B4GAT1 Arina Puzriakova Source was removed from B4GAT1.
Congenital muscular dystrophy v3.27 B4GAT1 Arina Puzriakova Phenotypes for gene: B4GAT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Congenital muscular dystrophy v3.26 B3GALNT2 Arina Puzriakova Source was removed from B3GALNT2.
Congenital muscular dystrophy v3.25 B3GALNT2 Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Congenital myopathy v3.18 ATP2A1 Arina Puzriakova Phenotypes for gene: ATP2A1 were changed from Brody Myopathy; Brody myopathy, 601003 to Brody myopathy, OMIM:601003
Congenital myopathy v3.17 ASCC3 Arina Puzriakova Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Congenital muscular dystrophy v3.24 ANO5 Arina Puzriakova Source was removed from ANO5.
Congenital muscular dystrophy v3.23 ANO5 Arina Puzriakova Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive to Miyoshi muscular dystrophy 3, OMIM:613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
Congenital myopathy v3.16 ADSSL1 Arina Puzriakova Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030
Hereditary neuropathy v1.459 SETX Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: SETX.
Hereditary neuropathy v1.459 SETX Achchuthan Shanmugasundram Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v3.15 ACTN2 Arina Puzriakova Phenotypes for gene: ACTN2 were changed from Multiple structured Core Disease; progressive early-onset muscle weakness to Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654
Neurotransmitter disorders v1.9 ALDH5A1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ALDH5A1.
Fetal hydrops v1.58 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Fetal hydrops v1.58 PEX6 Achchuthan Shanmugasundram Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v2.4 XPNPEP3 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: XPNPEP3.
Osteogenesis imperfecta v3.5 P4HB Eleanor Williams Tag Q2_22_MOI was removed from gene: P4HB.
Osteogenesis imperfecta v3.5 SGMS2 Eleanor Williams Tag Q3_21_rating was removed from gene: SGMS2.
Osteogenesis imperfecta v3.5 DSPP Eleanor Williams Tag Q3_22_rating was removed from gene: DSPP.
Tag Q3_22_expert_review was removed from gene: DSPP.
Osteogenesis imperfecta v3.5 COPB2 Eleanor Williams Tag Q3_21_rating was removed from gene: COPB2.
Osteogenesis imperfecta v3.5 P4HB Eleanor Williams commented on gene: P4HB: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v3.5 SGMS2 Eleanor Williams edited their review of gene: SGMS2: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The reviewers note that the associated phenotype appears variable, and that R104 Skeletal Dysplasia panel looks a better fit for this gene.; Changed rating: AMBER
Osteogenesis imperfecta v3.5 DSPP Eleanor Williams edited their review of gene: DSPP: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED
Osteogenesis imperfecta v3.5 COPB2 Eleanor Williams commented on gene: COPB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v3.4 P4HB Eleanor Williams Mode of inheritance for gene P4HB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis imperfecta v3.4 DSPP Eleanor Williams Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Osteogenesis imperfecta v3.4 COPB2 Eleanor Williams Source Expert Review Green was added to COPB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v3.6 ISCA-46303-Loss Arina Puzriakova reviewed Region: ISCA-46303-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v4.54 ISCA-46553-Loss Arina Puzriakova reviewed Region: ISCA-46553-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - childhood onset v3.28 ISCA-46553-Loss Arina Puzriakova reviewed Region: ISCA-46553-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v4.54 ISCA-46742-Loss Arina Puzriakova reviewed Region: ISCA-46742-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v3.6 ISCA-46742-Loss Arina Puzriakova reviewed Region: ISCA-46742-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v2.19 ISCA-37436-Loss Arina Puzriakova reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.458 ISCA-37436-Loss Arina Puzriakova reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.458 ISCA-37436-Gain Arina Puzriakova changed review comment from: New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.; to: Genomic coordinates updated based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.
Hereditary neuropathy or pain disorder v2.19 ISCA-37436-Gain Arina Puzriakova reviewed Region: ISCA-37436-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.458 ISCA-37436-Gain Arina Puzriakova edited their review of Region: ISCA-37436-Gain: Added comment: New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.; Changed rating: GREEN
Intellectual disability v4.54 ISCA-46297-Loss Arina Puzriakova reviewed Region: ISCA-46297-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v3.31 ISCA-46297-Loss Arina Puzriakova reviewed Region: ISCA-46297-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic hearing loss v3.8 ISCA-46297-Loss Arina Puzriakova edited their review of Region: ISCA-46297-Loss: Changed rating: GREEN
Monogenic hearing loss v3.8 ISCA-46297-Loss Arina Puzriakova commented on Region: ISCA-46297-Loss
Intellectual disability v4.54 ISCA-37495-Loss Arina Puzriakova reviewed Region: ISCA-37495-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v4.54 ISCA-46304-Gain Arina Puzriakova reviewed Region: ISCA-46304-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v3.31 ISCA-46304-Gain Arina Puzriakova edited their review of Region: ISCA-46304-Gain: Changed rating: GREEN
Early onset or syndromic epilepsy v3.31 ISCA-46304-Gain Arina Puzriakova commented on Region: ISCA-46304-Gain
Hereditary spastic paraplegia, childhood onset v3.10 ISCA-46304-Gain Arina Puzriakova reviewed Region: ISCA-46304-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v4.54 ISCA-37423-Loss Arina Puzriakova edited their review of Region: ISCA-37423-Loss: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022).; Changed rating: GREEN
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Loss Arina Puzriakova edited their review of Region: ISCA-37423-Loss: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022).; Changed rating: GREEN
Intellectual disability v4.54 ISCA-37423-Gain Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.31 ISCA-37423-Gain Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
Clefting v3.6 ISCA-37423-Gain Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Gain Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
Clefting v3.6 ISCA-46303-Loss Arina Puzriakova Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Clefting. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46303-Loss were set to 24934569; 26663529; 19234473
Ataxia and cerebellar anomalies - childhood onset v3.28 ISCA-46553-Loss Arina Puzriakova Region: ISCA-46553-Loss was added
Region: ISCA-46553-Loss was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46553-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46553-Loss were set to 21204220; 15338008; 22067867; 21471554; 28503614
Intellectual disability v4.54 ISCA-46553-Loss Arina Puzriakova Region: ISCA-46553-Loss was added
Region: ISCA-46553-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46553-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46553-Loss were set to 21204220; 15338008; 22067867; 21471554; 28503614
Severe microcephaly v3.6 ISCA-46742-Loss Arina Puzriakova Region: ISCA-46742-Loss was added
Region: ISCA-46742-Loss was added to Severe microcephaly. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46742-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46742-Loss were set to 27633570; 32562408; 29274487; 29220674
Intellectual disability v4.54 ISCA-46742-Loss Arina Puzriakova Region: ISCA-46742-Loss was added
Region: ISCA-46742-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46742-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46742-Loss were set to 27633570; 32562408; 29274487; 29220674
Hereditary neuropathy v1.458 ISCA-37436-Loss Arina Puzriakova GRCh38 position for ISCA-37436-Loss was changed from 14194598-15567587 to 14194598-15519638.
Hereditary neuropathy v1.458 ISCA-37436-Gain Arina Puzriakova GRCh38 position for ISCA-37436-Gain was changed from 14194598-15567587 to 14194598-15519638.
Hereditary neuropathy or pain disorder v2.19 ISCA-37436-Loss Arina Puzriakova Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to 20301566
Hereditary neuropathy or pain disorder v2.19 ISCA-37436-Gain Arina Puzriakova Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to 20301384
Early onset or syndromic epilepsy v3.31 ISCA-46297-Loss Arina Puzriakova Region: ISCA-46297-Loss was added
Region: ISCA-46297-Loss was added to Genetic epilepsy syndromes. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46297-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598
Intellectual disability v4.54 ISCA-46297-Loss Arina Puzriakova Region: ISCA-46297-Loss was added
Region: ISCA-46297-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46297-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598
Monogenic hearing loss v3.8 ISCA-46297-Loss Arina Puzriakova Region: ISCA-46297-Loss was added
Region: ISCA-46297-Loss was added to Monogenic hearing loss. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46297-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598
Intellectual disability v4.54 ISCA-37495-Loss Arina Puzriakova Region: ISCA-37495-Loss was added
Region: ISCA-37495-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37495-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37495-Loss were set to 26227573
Hereditary spastic paraplegia, childhood onset v3.10 ISCA-46304-Gain Arina Puzriakova Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46304-Gain 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 Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567
Early onset or syndromic epilepsy v3.31 ISCA-46304-Gain Arina Puzriakova Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Genetic epilepsy syndromes. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46304-Gain 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 Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567
Intellectual disability v4.54 ISCA-46304-Gain Arina Puzriakova Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Intellectual disability. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46304-Gain 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 Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Loss Arina Puzriakova GRCh38 position for ISCA-37423-Loss was changed from 8261773-11908210 to 8242542-11908820.
Intellectual disability v4.54 ISCA-37423-Loss Arina Puzriakova GRCh38 position for ISCA-37423-Loss was changed from 8261773-11908210 to 8242542-11908820.
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Gain Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820.
Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2.
Intellectual disability v4.54 ISCA-37423-Gain Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820.
Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2.
Early onset or syndromic epilepsy v3.31 ISCA-37423-Gain Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820.
Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2.
Clefting v3.6 ISCA-37423-Gain Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820.
Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2.
Endocrine neoplasia v2.2 PTEN Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PTEN.
Tag Q2_21_phenotype was removed from gene: PTEN.
Tag Q2_21_expert_review was removed from gene: PTEN.
Tag Q2_21_NHS_review was removed from gene: PTEN.
Endocrine neoplasia v2.2 PMS2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PMS2.
Tag Q2_21_phenotype was removed from gene: PMS2.
Tag Q2_21_expert_review was removed from gene: PMS2.
Tag Q2_21_NHS_review was removed from gene: PMS2.
Endocrine neoplasia v2.2 MSH6 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: MSH6.
Tag Q2_21_phenotype was removed from gene: MSH6.
Tag Q2_21_expert_review was removed from gene: MSH6.
Tag Q2_21_NHS_review was removed from gene: MSH6.
Endocrine neoplasia v2.2 MSH2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: MSH2.
Tag Q2_21_phenotype was removed from gene: MSH2.
Tag Q2_21_expert_review was removed from gene: MSH2.
Tag Q2_21_NHS_review was removed from gene: MSH2.
Endocrine neoplasia v2.2 MLH1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: MLH1.
Tag Q2_21_phenotype was removed from gene: MLH1.
Tag Q2_21_expert_review was removed from gene: MLH1.
Tag Q2_21_NHS_review was removed from gene: MLH1.
Endocrine neoplasia v2.2 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Endocrine neoplasia v2.2 PMS2 Achchuthan Shanmugasundram reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Endocrine neoplasia v2.2 MSH6 Achchuthan Shanmugasundram reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Endocrine neoplasia v2.2 MSH2 Achchuthan Shanmugasundram reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Endocrine neoplasia v2.2 MLH1 Achchuthan Shanmugasundram reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v3.26 COL2A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COL2A1.
Tag Q3_22_NHS_review was removed from gene: COL2A1.
Tag Q3_22_expert_review was removed from gene: COL2A1.
Clefting v3.5 MED12 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: MED12.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 TLR8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TLR8.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IKBKB Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IFNAR2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: IFNAR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FOXN1 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 PRIM1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PRIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FASLG Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 AGR2 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: AGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 UBA1 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: UBA1.
Tag Q2_22_expert_review was removed from gene: UBA1.
Tag Q2_22_NHS_review was removed from gene: UBA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 TLR8 Achchuthan Shanmugasundram reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IKBKB Achchuthan Shanmugasundram commented on gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 IFNAR2 Achchuthan Shanmugasundram reviewed gene: IFNAR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FOXN1 Achchuthan Shanmugasundram commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 PRIM1 Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FASLG Achchuthan Shanmugasundram commented on gene: FASLG
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 AGR2 Achchuthan Shanmugasundram reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 UBA1 Achchuthan Shanmugasundram reviewed gene: UBA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 TLR8 Achchuthan Shanmugasundram Source Expert Review Green was added to TLR8.
Source NHS GMS was added to TLR8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 PRIM1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRIM1.
Source NHS GMS was added to PRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 IKBKB Achchuthan Shanmugasundram Mode of inheritance for gene IKBKB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 IFNAR2 Achchuthan Shanmugasundram Source Expert Review Green was added to IFNAR2.
Source NHS GMS was added to IFNAR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 FOXN1 Achchuthan Shanmugasundram Mode of inheritance for gene FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 FASLG Achchuthan Shanmugasundram Mode of inheritance for gene FASLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 AGR2 Achchuthan Shanmugasundram Source Expert Review Green was added to AGR2.
Source NHS GMS was added to AGR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare anaemia v2.3 RPS27 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPS27.
Tag Q3_22_expert_review was removed from gene: RPS27.
Rare anaemia v2.3 RPL27 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPL27.
Tag Q3_22_expert_review was removed from gene: RPL27.
Cytopenia - NOT Fanconi anaemia v2.3 RPL27 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPL27.
Tag Q3_22_expert_review was removed from gene: RPL27.
Hydrocephalus v3.5 AP1S2 Eleanor Williams Deleted their comment
Hydrocephalus v3.5 AP1S2 Eleanor Williams Deleted their comment
Optic neuropathy v3.8 SSBP1 Achchuthan Shanmugasundram Classified gene: SSBP1 as Green List (high evidence)
Optic neuropathy v3.8 SSBP1 Achchuthan Shanmugasundram Gene: ssbp1 has been classified as Green List (High Evidence).
Clefting v3.5 SF3B2 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: SF3B2.
Clefting v3.5 PLCB4 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PLCB4.
Clefting v3.5 GDF11 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: GDF11.
Clefting v3.5 SEPT9 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: SEPT9.
Clefting v3.5 MED12 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Congenital myopathy v3.14 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Congenital myopathy v3.14 CNTN1 Eleanor Williams commented on gene: CNTN1
Congenital myopathy v3.14 TNNC2 Eleanor Williams Tag Q3_21_rating was removed from gene: TNNC2.
Congenital myopathy v3.14 MYOD1 Eleanor Williams Tag Q3_21_rating was removed from gene: MYOD1.
Congenital myopathy v3.14 MYL2 Eleanor Williams Tag Q2_21_rating was removed from gene: MYL2.
Congenital myopathy v3.14 MYH8 Eleanor Williams Tag Q2_21_rating was removed from gene: MYH8.
Tag Q2_21_phenotype was removed from gene: MYH8.
Tag Q2_21_expert_review was removed from gene: MYH8.
Clefting v3.5 SF3B2 Achchuthan Shanmugasundram reviewed gene: SF3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v3.5 PLCB4 Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v3.5 GDF11 Achchuthan Shanmugasundram reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v3.5 SEPT9 Achchuthan Shanmugasundram reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v3.5 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MTM1 Eleanor Williams Tag Q3_22_MOI was removed from gene: MTM1.
Congenital myopathy v3.14 MTM1 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Clefting v3.4 SF3B2 Achchuthan Shanmugasundram Source NHS GMS was added to SF3B2.
Source Expert Review Green was added to SF3B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v3.4 SEPT9 Achchuthan Shanmugasundram Source Expert Review Amber was added to SEPT9.
Source NHS GMS was added to SEPT9.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Clefting v3.4 PLCB4 Achchuthan Shanmugasundram Source NHS GMS was added to PLCB4.
Source Expert Review Green was added to PLCB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v3.4 MED12 Achchuthan Shanmugasundram Source NHS GMS was added to MED12.
Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v3.4 GDF11 Achchuthan Shanmugasundram Source NHS GMS was added to GDF11.
Source Expert Review Green was added to GDF11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.14 HNRNPA2B1 Eleanor Williams Tag for-review was removed from gene: HNRNPA2B1.
Congenital myopathy v3.14 HACD1 Eleanor Williams Tag Q2_21_rating was removed from gene: HACD1.
Congenital myopathy v3.14 COX6A2 Eleanor Williams Tag Q3_22_rating was removed from gene: COX6A2.
Congenital myopathy v3.14 ASCC3 Eleanor Williams Tag Q3_21_rating was removed from gene: ASCC3.
Congenital myopathy v3.14 TNNC2 Eleanor Williams reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MYOD1 Eleanor Williams reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MYL2 Eleanor Williams reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MYH8 Eleanor Williams reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MTM1 Eleanor Williams commented on gene: MTM1
Congenital myopathy v3.14 HNRNPA2B1 Eleanor Williams reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 HACD1 Eleanor Williams reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 COX6A2 Eleanor Williams reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 ASCC3 Eleanor Williams reviewed gene: ASCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.13 TNNC2 Eleanor Williams Source Expert Review Green was added to TNNC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 MYOD1 Eleanor Williams Source Expert Review Green was added to MYOD1.
Source NHS GMS was added to MYOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 MYL2 Eleanor Williams Source Expert Review Green was added to MYL2.
Source NHS GMS was added to MYL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 MYH8 Eleanor Williams Source Expert Review Red was added to MYH8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v3.13 MTM1 Eleanor Williams Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v3.13 HNRNPA2B1 Eleanor Williams Source Expert Review Green was added to HNRNPA2B1.
Source NHS GMS was added to HNRNPA2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 HACD1 Eleanor Williams Source Expert Review Green was added to HACD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 COX6A2 Eleanor Williams Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 ASCC3 Eleanor Williams Source Expert Review Green was added to ASCC3.
Source NHS GMS was added to ASCC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Amelogenesis imperfecta v2.22 SP6 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: SP6.
Amelogenesis imperfecta v2.22 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Amelogenesis imperfecta v2.22 PEX26 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: PEX26.
Amelogenesis imperfecta v2.22 SP6 Achchuthan Shanmugasundram reviewed gene: SP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Amelogenesis imperfecta v2.22 PEX6 Achchuthan Shanmugasundram commented on gene: PEX6
Amelogenesis imperfecta v2.22 PEX26 Achchuthan Shanmugasundram reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Amelogenesis imperfecta v2.21 SP6 Achchuthan Shanmugasundram Source Expert Review Green was added to SP6.
Source NHS GMS was added to SP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Amelogenesis imperfecta v2.21 PEX6 Achchuthan Shanmugasundram Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amelogenesis imperfecta v2.21 PEX26 Achchuthan Shanmugasundram Source Expert Review Green was added to PEX26.
Source NHS GMS was added to PEX26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.5 PDK3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. GMS reviewers believe that there is currently insufficient evidence that variants in this gene lead to primary mitochondrial disease (disease mechanism unclear; phenotype CMT; phenotype not consistent with known PDH deficiency disorders).
Possible mitochondrial disorder, nuclear genes v2.5 PDK3 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: PDK3.
Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q1_22_expert_review was removed from gene: PDK3.
Possible mitochondrial disorder, nuclear genes v2.5 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Tag Q3_22_NHS_review was removed from gene: UQCRFS1.
Possible mitochondrial disorder, nuclear genes v2.5 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Tag Q3_22_NHS_review was removed from gene: UQCRC2.
Possible mitochondrial disorder, nuclear genes v2.5 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Tag Q3_22_NHS_review was removed from gene: TIMMDC1.
Possible mitochondrial disorder, nuclear genes v2.5 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Tag Q3_22_NHS_review was removed from gene: TFAM.
Pituitary hormone deficiency v2.106 GHR Catherine Snow Tag Q1_23_demote_red was removed from gene: GHR.
Tag Q1_23_expert_review was removed from gene: GHR.
Pituitary hormone deficiency v2.106 BRAF Catherine Snow Tag Q3_22_rating was removed from gene: BRAF.
Tag Q3_22_NHS_review was removed from gene: BRAF.
Possible mitochondrial disorder, nuclear genes v2.5 TARS2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TARS2.
Tag Q3_22_NHS_review was removed from gene: TARS2.
Congenital muscular dystrophy v3.22 MYMK Eleanor Williams Tag Q3_21_rating was removed from gene: MYMK.
Tag Q3_21_expert_review was removed from gene: MYMK.
Tag Q3_21_phenotype was removed from gene: MYMK.
Congenital muscular dystrophy v3.22 JAG2 Eleanor Williams Tag Q2_21_rating was removed from gene: JAG2.
Congenital muscular dystrophy v3.22 HNRNPA2B1 Eleanor Williams Tag for-review was removed from gene: HNRNPA2B1.
Tag Q1_22_rating was removed from gene: HNRNPA2B1.
Tag Q4_22_promote_green was removed from gene: HNRNPA2B1.
Congenital muscular dystrophy v3.22 GGPS1 Eleanor Williams Tag Q4_21_rating was removed from gene: GGPS1.
Congenital muscular dystrophy v3.22 CAVIN1 Eleanor Williams Tag Q3_21_rating was removed from gene: CAVIN1.
Congenital muscular dystrophy v3.22 MYMK Eleanor Williams edited their review of gene: MYMK: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. MYMK will remain green on the Congenital Myopathy panel.; Changed rating: RED
Congenital muscular dystrophy v3.22 JAG2 Eleanor Williams commented on gene: JAG2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital muscular dystrophy v3.22 HNRNPA2B1 Eleanor Williams reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v3.22 GGPS1 Eleanor Williams reviewed gene: GGPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v3.22 CAVIN1 Eleanor Williams reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v3.21 MYMK Eleanor Williams Source Expert Review Red was added to MYMK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital muscular dystrophy v3.21 JAG2 Eleanor Williams Source Expert Review Green was added to JAG2.
Source NHS GMS was added to JAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.21 HNRNPA2B1 Eleanor Williams Source Expert Review Green was added to HNRNPA2B1.
Source NHS GMS was added to HNRNPA2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.21 GGPS1 Eleanor Williams Source Expert Review Green was added to GGPS1.
Source NHS GMS was added to GGPS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.21 CAVIN1 Eleanor Williams Source Expert Review Green was added to CAVIN1.
Source NHS GMS was added to CAVIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Distal myopathies v2.3 CRYAB Mafalda Gomes Tag Q4_21_MOI was removed from gene: CRYAB.
Distal myopathies v2.3 CNBP Mafalda Gomes Tag Q4_21_MOI was removed from gene: CNBP.
Tag Q4_21_rating was removed from gene: CNBP.
Distal myopathies v2.3 CRYAB Mafalda Gomes commented on gene: CRYAB
Distal myopathies v2.3 CNBP Mafalda Gomes edited their review of gene: CNBP: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Distal myopathies v2.3 CNBP Mafalda Gomes commented on gene: CNBP
Distal myopathies v2.2 CRYAB Mafalda Gomes Source NHS GMS was added to CRYAB.
Mode of inheritance for gene CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Distal myopathies v2.2 CNBP Mafalda Gomes Source Expert Review Red was added to CNBP.
Source NHS GMS was added to CNBP.
Mode of inheritance for gene CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myaesthenic syndrome v3.5 SYT2 Mafalda Gomes Tag Q3_21_MOI was removed from gene: SYT2.
Congenital myaesthenic syndrome v3.5 SYT2 Mafalda Gomes commented on gene: SYT2
Congenital myaesthenic syndrome v3.4 SYT2 Mafalda Gomes Mode of inheritance for gene SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.3 NFIA Mafalda Gomes Tag Q2_22_rating was removed from gene: NFIA.
Tag Q2_22_NHS_review was removed from gene: NFIA.
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.3 NFIA Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.2 NFIA Mafalda Gomes Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v2.68 LTBP1 Mafalda Gomes Tag Q3_21_rating was removed from gene: LTBP1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 IPO8 Mafalda Gomes reviewed gene: IPO8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v2.68 IPO8 Mafalda Gomes Tag Q2_21_rating was removed from gene: IPO8.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 COL3A1 Mafalda Gomes Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 LTBP1 Achchuthan Shanmugasundram reviewed gene: LTBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v2.68 IPO8 Achchuthan Shanmugasundram reviewed gene: IPO8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v2.68 COL3A1 Achchuthan Shanmugasundram commented on gene: COL3A1
Ehlers Danlos syndrome with a likely monogenic cause v2.67 COL3A1 Mafalda Gomes Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, adult onset v2.7 HSPD1 Mafalda Gomes Tag Q2_22_rating was removed from gene: HSPD1.
Tag Q2_22_expert_review was removed from gene: HSPD1.
Hereditary spastic paraplegia, adult onset v2.7 C19orf12 Mafalda Gomes Tag Q2_22_MOI was removed from gene: C19orf12.
Hereditary spastic paraplegia, adult onset v2.7 HSPD1 Mafalda Gomes reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset v2.7 C19orf12 Mafalda Gomes commented on gene: C19orf12
Hereditary spastic paraplegia, adult onset v2.6 C19orf12 Mafalda Gomes Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v2.4 PYGM Arina Puzriakova Tag Q2_21_rating was removed from gene: PYGM.
Tag Q2_21_phenotype was removed from gene: PYGM.
Tag Q2_21_expert_review was removed from gene: PYGM.
Skeletal muscle channelopathy v2.4 SLC2A1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC2A1.
Tag Q2_21_phenotype was removed from gene: SLC2A1.
Tag Q2_21_expert_review was removed from gene: SLC2A1.
Skeletal muscle channelopathy v2.4 SLC1A3 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC1A3.
Tag Q2_21_phenotype was removed from gene: SLC1A3.
Tag Q2_21_expert_review was removed from gene: SLC1A3.
Skeletal muscle channelopathy v2.4 CACNA1A Arina Puzriakova Tag Q2_21_rating was removed from gene: CACNA1A.
Tag Q2_21_phenotype was removed from gene: CACNA1A.
Tag Q2_21_expert_review was removed from gene: CACNA1A.
Skeletal muscle channelopathy v2.4 ATP1A2 Arina Puzriakova Tag Q2_21_rating was removed from gene: ATP1A2.
Tag Q2_21_phenotype was removed from gene: ATP1A2.
Tag Q2_21_expert_review was removed from gene: ATP1A2.
Skeletal muscle channelopathy v2.4 PYGM Arina Puzriakova commented on gene: PYGM
Skeletal muscle channelopathy v2.4 SLC2A1 Arina Puzriakova reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.4 SLC1A3 Arina Puzriakova reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.4 CACNA1A Arina Puzriakova reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.4 ATP1A2 Arina Puzriakova reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.3 SLC2A1 Arina Puzriakova Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.3 SLC1A3 Arina Puzriakova Source Expert Review Red was added to SLC1A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.3 CACNA1A Arina Puzriakova Source Expert Review Red was added to CACNA1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.3 ATP1A2 Arina Puzriakova Source Expert Review Red was added to ATP1A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v2.2 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Skeletal muscle channelopathy v2.2 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v2.1 CNBP_CCTG Arina Puzriakova Tag Q4_21_expert_review was removed from STR: CNBP_CCTG.
Tag Q4_21_rating was removed from STR: CNBP_CCTG.
Skeletal muscle channelopathy v2.1 CNBP_CCTG Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: The rating of this STR has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Severe microcephaly v3.5 HHAT Arina Puzriakova Tag Q4_21_rating was removed from gene: HHAT.
Severe microcephaly v3.5 SPATA5L1 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1.
Severe microcephaly v3.5 PRIM1 Arina Puzriakova Tag Q2_21_rating was removed from gene: PRIM1.
Severe microcephaly v3.5 NCAPD3 Arina Puzriakova Tag Q2_22_rating was removed from gene: NCAPD3.
Tag Q2_22_NHS_review was removed from gene: NCAPD3.
Severe microcephaly v3.5 NAPB Arina Puzriakova Tag Q2_22_rating was removed from gene: NAPB.
Tag Q2_22_NHS_review was removed from gene: NAPB.
Severe microcephaly v3.5 HHAT Arina Puzriakova edited their review of gene: HHAT: Changed rating: GREEN
Severe microcephaly v3.5 HHAT Arina Puzriakova changed review comment from: 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.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Severe microcephaly v3.5 DROSHA Arina Puzriakova Tag Q2_22_rating was removed from gene: DROSHA.
Severe microcephaly v3.5 CCND2 Arina Puzriakova Tag Q1_22_rating was removed from gene: CCND2.
Severe microcephaly v3.5 CCND2 Arina Puzriakova edited their review of gene: CCND2: Changed rating: GREEN
Severe microcephaly v3.5 CCND2 Arina Puzriakova changed review comment from: 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.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia, childhood onset v3.9 PI4KA Mafalda Gomes Tag Q1_22_phenotype was removed from gene: PI4KA.
Tag Q1_22_expert_review was removed from gene: PI4KA.
Tag Q1_22_NHS_review was removed from gene: PI4KA.
Severe microcephaly v3.5 TUBG1 Arina Puzriakova Tag Q3_22_rating was removed from gene: TUBG1.
Tag Q3_22_NHS_review was removed from gene: TUBG1.
Hereditary spastic paraplegia, childhood onset v3.9 PI4KA Mafalda Gomes changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains XX.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.
Severe microcephaly v3.5 SLC38A3 Arina Puzriakova Tag Q3_22_rating was removed from gene: SLC38A3.
Severe microcephaly v3.5 NSRP1 Arina Puzriakova Tag Q3_22_rating was removed from gene: NSRP1.
Severe microcephaly v3.5 HMGB1 Arina Puzriakova Tag Q3_22_rating was removed from gene: HMGB1.
Hereditary spastic paraplegia, childhood onset v3.9 TFG Mafalda Gomes Tag Q3_21_MOI was removed from gene: TFG.
Severe microcephaly v3.5 GINS3 Arina Puzriakova Tag Q3_22_rating was removed from gene: GINS3.
Severe microcephaly v3.5 CHKA Arina Puzriakova Tag Q3_22_rating was removed from gene: CHKA.
Tag Q3_22_MOI was removed from gene: CHKA.
Hereditary spastic paraplegia, childhood onset v3.9 SPATA5L1 Mafalda Gomes Tag Q1_22_rating was removed from gene: SPATA5L1.
Severe microcephaly v3.5 ATP6V0A1 Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP6V0A1.
Hereditary spastic paraplegia, childhood onset v3.9 HSPD1 Mafalda Gomes Tag Q2_22_rating was removed from gene: HSPD1.
Hereditary spastic paraplegia, childhood onset v3.9 C19orf12 Mafalda Gomes Tag Q2_22_MOI was removed from gene: C19orf12.
Severe microcephaly v3.5 SPATA5L1 Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v3.5 PRIM1 Arina Puzriakova commented on gene: PRIM1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Severe microcephaly v3.5 NCAPD3 Arina Puzriakova commented on gene: NCAPD3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Severe microcephaly v3.5 NAPB Arina Puzriakova edited their review of gene: NAPB: Added comment: 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.; Changed rating: GREEN
Severe microcephaly v3.5 HHAT Arina Puzriakova commented on gene: HHAT
Severe microcephaly v3.5 DROSHA Arina Puzriakova reviewed gene: DROSHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v3.5 CCND2 Arina Puzriakova commented on gene: CCND2
Severe microcephaly v3.5 TUBG1 Arina Puzriakova edited their review of gene: TUBG1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Severe microcephaly v3.5 SLC38A3 Arina Puzriakova reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v3.5 NSRP1 Arina Puzriakova edited their review of gene: NSRP1: Added comment: 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.; Changed rating: GREEN
Severe microcephaly v3.5 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Severe microcephaly v3.5 GINS3 Arina Puzriakova reviewed gene: GINS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v3.5 CHKA Arina Puzriakova reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v3.5 ATP6V0A1 Arina Puzriakova reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 AIMP1 Mafalda Gomes Tag Q3_21_MOI was removed from gene: AIMP1.
Hereditary spastic paraplegia, childhood onset v3.9 ACER3 Mafalda Gomes Tag Q1_22_rating was removed from gene: ACER3.
Severe microcephaly v3.4 TUBG1 Arina Puzriakova Source Expert Review Green was added to TUBG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 SPATA5L1 Arina Puzriakova Source Expert Review Green was added to SPATA5L1.
Source NHS GMS was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 SLC38A3 Arina Puzriakova Source Expert Review Green was added to SLC38A3.
Source NHS GMS was added to SLC38A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 PRIM1 Arina Puzriakova Source Expert Review Green was added to PRIM1.
Source NHS GMS was added to PRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 NSRP1 Arina Puzriakova Source Expert Review Green was added to NSRP1.
Source NHS GMS was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 NCAPD3 Arina Puzriakova Source Expert Review Green was added to NCAPD3.
Source NHS GMS was added to NCAPD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 NAPB Arina Puzriakova Source Expert Review Green was added to NAPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 HMGB1 Arina Puzriakova Source Expert Review Green was added to HMGB1.
Source NHS GMS was added to HMGB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 HHAT Arina Puzriakova Source Expert Review Green was added to HHAT.
Source NHS GMS was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 GINS3 Arina Puzriakova Source Expert Review Green was added to GINS3.
Source NHS GMS was added to GINS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 DROSHA Arina Puzriakova Source Expert Review Green was added to DROSHA.
Source NHS GMS was added to DROSHA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 CHKA Arina Puzriakova Source Expert Review Green was added to CHKA.
Source NHS GMS was added to CHKA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 CCND2 Arina Puzriakova Source Expert Review Green was added to CCND2.
Source NHS GMS was added to CCND2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v3.4 ATP6V0A1 Arina Puzriakova Source Expert Review Green was added to ATP6V0A1.
Source NHS GMS was added to ATP6V0A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.9 ABHD16A Mafalda Gomes Tag Q4_21_rating was removed from gene: ABHD16A.
Hereditary spastic paraplegia, childhood onset v3.9 TMEM63C Mafalda Gomes Tag Q3_22_rating was removed from gene: TMEM63C.
Hereditary spastic paraplegia, childhood onset v3.9 TAF8 Mafalda Gomes Tag Q3_22_rating was removed from gene: TAF8.
Rhabdomyolysis and metabolic muscle disorders v2.5 SGCA Arina Puzriakova Tag Q1_22_rating was removed from gene: SGCA.
Rhabdomyolysis and metabolic muscle disorders v2.5 SCN4A Arina Puzriakova Tag Q1_22_rating was removed from gene: SCN4A.
Hereditary spastic paraplegia, childhood onset v3.9 NSRP1 Mafalda Gomes Tag Q3_22_rating was removed from gene: NSRP1.
Rhabdomyolysis and metabolic muscle disorders v2.5 GMPPB Arina Puzriakova Tag Q3_21_rating was removed from gene: GMPPB.
Rhabdomyolysis and metabolic muscle disorders v2.5 FDX2 Arina Puzriakova Tag Q3_21_rating was removed from gene: FDX2.
Rhabdomyolysis and metabolic muscle disorders v2.5 CPT2 Arina Puzriakova Tag Q1_22_MOI was removed from gene: CPT2.
Hereditary spastic paraplegia, childhood onset v3.9 NDUFA12 Mafalda Gomes Tag Q3_22_rating was removed from gene: NDUFA12.
Rhabdomyolysis and metabolic muscle disorders v2.5 CAV3 Arina Puzriakova Tag Q3_21_MOI was removed from gene: CAV3.
Rhabdomyolysis and metabolic muscle disorders v2.5 TSEN54 Arina Puzriakova Tag Q2_21_rating was removed from gene: TSEN54.
Tag Q2_21_expert_review was removed from gene: TSEN54.
Hereditary spastic paraplegia, childhood onset v3.9 KPNA3 Mafalda Gomes Tag Q3_22_rating was removed from gene: KPNA3.
Rhabdomyolysis and metabolic muscle disorders v2.5 PHKB Arina Puzriakova Tag Q4_21_rating was removed from gene: PHKB.
Tag Q4_21_phenotype was removed from gene: PHKB.
Tag Q2_22_expert_review was removed from gene: PHKB.
Rhabdomyolysis and metabolic muscle disorders v2.5 FKTN Arina Puzriakova Tag Q3_22_rating was removed from gene: FKTN.
Tag Q3_22_expert_review was removed from gene: FKTN.
Hereditary spastic paraplegia, childhood onset v3.9 PI4KA Mafalda Gomes reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 TFG Mafalda Gomes commented on gene: TFG
Hereditary spastic paraplegia, childhood onset v3.9 SPATA5L1 Mafalda Gomes reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 HSPD1 Mafalda Gomes reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 C19orf12 Mafalda Gomes commented on gene: C19orf12
Hereditary spastic paraplegia, childhood onset v3.9 AIMP1 Mafalda Gomes commented on gene: AIMP1
Hereditary spastic paraplegia, childhood onset v3.9 ACER3 Mafalda Gomes edited their review of gene: ACER3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Hereditary spastic paraplegia, childhood onset v3.9 ACER3 Mafalda Gomes commented on gene: ACER3
Hereditary spastic paraplegia, childhood onset v3.9 ABHD16A Mafalda Gomes reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 TMEM63C Mafalda Gomes commented on gene: TMEM63C: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia, childhood onset v3.9 TMEM63C Mafalda Gomes reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 TAF8 Mafalda Gomes commented on gene: TAF8: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia, childhood onset v3.9 TAF8 Mafalda Gomes reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 NSRP1 Mafalda Gomes commented on gene: NSRP1: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia, childhood onset v3.9 NSRP1 Mafalda Gomes reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 NDUFA12 Mafalda Gomes commented on gene: NDUFA12: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia, childhood onset v3.9 NDUFA12 Mafalda Gomes reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.9 KPNA3 Mafalda Gomes commented on gene: KPNA3
Rhabdomyolysis and metabolic muscle disorders v2.5 SGCA Arina Puzriakova edited their review of gene: SGCA: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Rhabdomyolysis and metabolic muscle disorders v2.5 SCN4A Arina Puzriakova edited their review of gene: SCN4A: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Rhabdomyolysis and metabolic muscle disorders v2.5 GMPPB Arina Puzriakova reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v2.5 FDX2 Arina Puzriakova reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v2.5 CPT2 Arina Puzriakova commented on gene: CPT2: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v2.5 CAV3 Arina Puzriakova commented on gene: CAV3
Rhabdomyolysis and metabolic muscle disorders v2.5 TSEN54 Arina Puzriakova commented on gene: TSEN54: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v2.5 PHKB Arina Puzriakova reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v2.5 FKTN Arina Puzriakova reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdomyolysis and metabolic muscle disorders v2.4 TSEN54 Arina Puzriakova Source Expert Review Red was added to TSEN54.
Source NHS GMS was added to TSEN54.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 SGCA Arina Puzriakova Source Expert Review Green was added to SGCA.
Source NHS GMS was added to SGCA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 SCN4A Arina Puzriakova Source Expert Review Green was added to SCN4A.
Source NHS GMS was added to SCN4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 PHKB Arina Puzriakova Source Expert Review Red was added to PHKB.
Source NHS GMS was added to PHKB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 GMPPB Arina Puzriakova Source Expert Review Green was added to GMPPB.
Source NHS GMS was added to GMPPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 FKTN Arina Puzriakova Source Expert Review Red was added to FKTN.
Source NHS GMS was added to FKTN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 FDX2 Arina Puzriakova Source Expert Review Green was added to FDX2.
Source NHS GMS was added to FDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v2.4 CPT2 Arina Puzriakova Source NHS GMS was added to CPT2.
Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v2.4 CAV3 Arina Puzriakova Source NHS GMS was added to CAV3.
Mode of inheritance for gene CAV3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia, adult onset v3.10 GLRB Mafalda Gomes Tag Q3_21_expert_review was removed from gene: GLRB.
Tag Q3_21_phenotype was removed from gene: GLRB.
Tag Q2_22_rating was removed from gene: GLRB.
Hereditary ataxia, adult onset v3.10 PRDX3 Mafalda Gomes Tag Q1_22_rating was removed from gene: PRDX3.
Hereditary ataxia, adult onset v3.10 PEX6 Mafalda Gomes Tag Q1_22_MOI was removed from gene: PEX6.
Hereditary ataxia, adult onset v3.10 NKX2-1 Mafalda Gomes Tag Q1_22_MOI was removed from gene: NKX2-1.
Hereditary ataxia, adult onset v3.10 CLCN2 Mafalda Gomes Tag Q4_21_MOI was removed from gene: CLCN2.
Hereditary ataxia, adult onset v3.10 STUB1 Mafalda Gomes Tag Q3_22_MOI was removed from gene: STUB1.
Hereditary ataxia, adult onset v3.10 GLRB Mafalda Gomes reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia, adult onset v3.10 PRDX3 Mafalda Gomes reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia, adult onset v3.10 PEX6 Mafalda Gomes commented on gene: PEX6
Hereditary ataxia, adult onset v3.10 NKX2-1 Mafalda Gomes commented on gene: NKX2-1
Hereditary ataxia, adult onset v3.10 CLCN2 Mafalda Gomes commented on gene: CLCN2
Hereditary ataxia, adult onset v3.10 STUB1 Mafalda Gomes commented on gene: STUB1
Paroxysmal central nervous system disorders v2.3 KCNMA1 Arina Puzriakova Tag Q1_22_MOI was removed from gene: KCNMA1.
Paroxysmal central nervous system disorders v2.3 KCNMA1 Arina Puzriakova commented on gene: KCNMA1
Paroxysmal central nervous system disorders v2.2 KCNMA1 Arina Puzriakova Mode of inheritance for gene KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia, adult onset v3.9 STUB1 Mafalda Gomes Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia, adult onset v3.9 PRDX3 Mafalda Gomes Source NHS GMS was added to PRDX3.
Source Expert Review Green was added to PRDX3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia, adult onset v3.9 PEX6 Mafalda Gomes Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia, adult onset v3.9 NKX2-1 Mafalda Gomes Mode of inheritance for gene NKX2-1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia, adult onset v3.9 CLCN2 Mafalda Gomes Mode of inheritance for gene CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v3.8 TMEM63C Mafalda Gomes Source Expert Review Green was added to TMEM63C.
Source NHS GMS was added to TMEM63C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 TFG Mafalda Gomes Mode of inheritance for gene TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v3.8 TAF8 Mafalda Gomes Source Expert Review Green was added to TAF8.
Source NHS GMS was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 SPATA5L1 Mafalda Gomes Source Expert Review Green was added to SPATA5L1.
Source NHS GMS was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 NSRP1 Mafalda Gomes Source Expert Review Green was added to NSRP1.
Source NHS GMS was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 NDUFA12 Mafalda Gomes Source Expert Review Green was added to NDUFA12.
Source NHS GMS was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 KPNA3 Mafalda Gomes Source Expert Review Green was added to KPNA3.
Source NHS GMS was added to KPNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 HSPD1 Mafalda Gomes Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 C19orf12 Mafalda Gomes Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v3.8 AIMP1 Mafalda Gomes Mode of inheritance for gene AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v3.8 ACER3 Mafalda Gomes Source Expert Review Green was added to ACER3.
Source NHS GMS was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v3.8 ABHD16A Mafalda Gomes Source Expert Review Green was added to ABHD16A.
Source NHS GMS was added to ABHD16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.5 SSBP1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SSBP1.
Tag Q3_22_NHS_review was removed from gene: SSBP1.
Possible mitochondrial disorder, nuclear genes v2.5 SDHB Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB.
Tag Q3_22_NHS_review was removed from gene: SDHB.
Possible mitochondrial disorder, nuclear genes v2.5 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Tag Q3_22_NHS_review was removed from gene: SDHA.
Possible mitochondrial disorder, nuclear genes v2.5 POLRMT Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: POLRMT.
Tag Q3_22_NHS_review was removed from gene: POLRMT.
Possible mitochondrial disorder, nuclear genes v2.5 NSUN3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3.
Tag Q3_22_NHS_review was removed from gene: NSUN3.
Possible mitochondrial disorder, nuclear genes v2.5 NFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NFS1.
Possible mitochondrial disorder, nuclear genes v2.5 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Tag Q3_22_NHS_review was removed from gene: NDUFB10.
Possible mitochondrial disorder, nuclear genes v2.5 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Tag Q3_22_NHS_review was removed from gene: NDUFA8.
Possible mitochondrial disorder, nuclear genes v2.5 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Tag Q3_22_NHS_review was removed from gene: NDUFA13.
Possible mitochondrial disorder, nuclear genes v2.5 NDUFA12 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA12.
Tag Q3_22_NHS_review was removed from gene: NDUFA12.
Possible mitochondrial disorder, nuclear genes v2.5 LYRM4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: LYRM4.
Tag Q3_22_NHS_review was removed from gene: LYRM4.
Possible mitochondrial disorder, nuclear genes v2.5 LIG3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3.
Possible mitochondrial disorder, nuclear genes v2.5 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Tag Q3_22_NHS_review was removed from gene: COX6A2.
Possible mitochondrial disorder, nuclear genes v2.5 CLPB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: CLPB.
Tag Q3_22_NHS_review was removed from gene: CLPB.
Possible mitochondrial disorder, nuclear genes v2.5 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Tag Q3_22_NHS_review was removed from gene: ATP5G3.
Possible mitochondrial disorder, nuclear genes v2.5 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Tag Q3_22_NHS_review was removed from gene: ATP5A1.
Possible mitochondrial disorder, nuclear genes v2.5 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Possible mitochondrial disorder, nuclear genes v2.5 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 TARS2 Achchuthan Shanmugasundram reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 SSBP1 Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 SDHB Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Possible mitochondrial disorder, nuclear genes v2.5 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 NSUN3 Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 NFS1 Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 LYRM4 Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 CLPB Achchuthan Shanmugasundram commented on gene: CLPB
Possible mitochondrial disorder, nuclear genes v2.5 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.5 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Possible mitochondrial disorder, nuclear genes v2.4 UQCRFS1 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 UQCRC2 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 TIMMDC1 Achchuthan Shanmugasundram Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 TFAM Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 TARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 SSBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 SDHB Achchuthan Shanmugasundram Source Expert Review Green was added to SDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v2.4 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 NSUN3 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 NFS1 Achchuthan Shanmugasundram Source Expert Review Green was added to NFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 NDUFB10 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 NDUFA8 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 NDUFA13 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 NDUFA12 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 LYRM4 Achchuthan Shanmugasundram Source Expert Review Green was added to LYRM4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 LIG3 Achchuthan Shanmugasundram Source NHS GMS was added to LIG3.
Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 CLPB Achchuthan Shanmugasundram Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v2.4 ATP5G3 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v2.4 ACO2 Achchuthan Shanmugasundram Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v2.3 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Tag Q3_22_NHS_review was removed from gene: TFAM.
Mitochondrial DNA maintenance disorder v2.3 SSBP1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SSBP1.
Tag Q3_22_NHS_review was removed from gene: SSBP1.
Mitochondrial DNA maintenance disorder v2.3 LIG3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3.
Mitochondrial DNA maintenance disorder v2.3 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial DNA maintenance disorder v2.3 SSBP1 Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial DNA maintenance disorder v2.3 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial DNA maintenance disorder v2.2 TFAM Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial DNA maintenance disorder v2.2 SSBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial DNA maintenance disorder v2.2 LIG3 Achchuthan Shanmugasundram Source Expert Review Green was added to LIG3.
Source NHS GMS was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.6 XPNPEP3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

Note from GMS reviewers: The phenotype arising from mutation of this gene is not that of mitochondrial disease. Not sure there is sufficient evidence that this can be classified as primary mitochondrial disease, but may be appropriate to include elsewhere in white matter disorders panel (C&S).
Mitochondrial disorders v3.6 XPNPEP3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: XPNPEP3.
Tag Q2_21_phenotype was removed from gene: XPNPEP3.
Tag Q2_21_expert_review was removed from gene: XPNPEP3.
Mitochondrial disorders v3.6 PDK3 Achchuthan Shanmugasundram Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q2_22_rating was removed from gene: PDK3.
Tag Q2_22_expert_review was removed from gene: PDK3.
Mitochondrial disorders v3.6 PDK3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.

Note from GMS reviewers: Phenotype from mutations from this gene is not that of Mitochondrial disease - appropriate to be green on Neuropathy panel(NT). Not sure there is sufficient evidence that this can be classified as primary mitochondrial disease, but may be appropriate to include elsewhere in white matter disorders panel (C&S).
Paediatric motor neuronopathies v2.6 AR Arina Puzriakova Tag Q2_21_rating was removed from gene: AR.
Tag Q2_21_MOI was removed from gene: AR.
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Paediatric motor neuronopathies v2.5 AR Arina Puzriakova commented on gene: AR: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.
Mitochondrial disorders v3.6 MARS2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.

Comment from GMS reviewers: If AR spastic ataxia cases due to rearrangement/duplication variants are included this is a green gene (NT), There looks to be sufficient evidence - include spastic ataxia OMIM #611390(C&S)
Paediatric motor neuronopathies v2.4 AR Arina Puzriakova Source NHS GMS was added to AR.
Source Expert Review Red was added to AR.
Mode of inheritance for gene AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorders v3.6 MARS2 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: MARS2.
Tag Q2_22_expert_review was removed from gene: MARS2.
Paediatric motor neuronopathies v2.3 AR_CAG Arina Puzriakova Tag Q2_21_rating was removed from STR: AR_CAG.
Paediatric motor neuronopathies v2.3 AR_CAG Arina Puzriakova edited their review of STR: AR_CAG: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Mitochondrial disorders v3.6 COX14 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.
Mitochondrial disorders v3.6 COX14 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: COX14.
Tag Q2_22_expert_review was removed from gene: COX14.
Mitochondrial disorders v3.6 TARS2 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: TARS2.
Mitochondrial disorders v3.6 SSBP1 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: SSBP1.
Neurological ciliopathies v2.6 ZNF423 Arina Puzriakova Tag Q3_22_rating was removed from gene: ZNF423.
Tag Q3_22_expert_review was removed from gene: ZNF423.
Neurological ciliopathies v2.6 ZNF423 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Additional comments from reviewing GLHs: "Chaki paper from 2012 has not been well-replicated in the decade since. Some individual reports but nothing convincing. Lack of clear biallelic LOF variants reported in humans"
Mitochondrial disorders v3.6 NFS1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NFS1.
Mitochondrial disorders v3.6 NDUFA12 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NDUFA12.
Mitochondrial disorders v3.6 NAXD Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NAXD.
Mitochondrial disorders v3.6 LIG3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3.
Neurological ciliopathies v2.6 LAMA1 Arina Puzriakova Tag Q3_21_rating was removed from gene: LAMA1.
Tag Q3_21_expert_review was removed from gene: LAMA1.
Mitochondrial disorders v3.6 KIAA0391 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: KIAA0391.
Neurological ciliopathies v2.6 ZNF423 Arina Puzriakova edited their review of gene: ZNF423: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Neurological ciliopathies v2.6 LAMA1 Arina Puzriakova edited their review of gene: LAMA1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Neurological ciliopathies v2.5 LAMA1 Arina Puzriakova Source Expert Review Green was added to LAMA1.
Source NHS GMS was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.6 CLPB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: CLPB.
Mitochondrial disorders v3.6 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Mitochondrial disorders v3.6 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Mitochondrial disorders v3.6 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Mitochondrial disorders v3.6 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Mitochondrial disorders v3.6 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Neurodegenerative disorders, adult onset v3.49 TTR Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TTR.
Mitochondrial disorders v3.6 SDHB Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB.
Neurodegenerative disorders, adult onset v3.49 TREX1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TREX1.
Neurodegenerative disorders, adult onset v3.49 LAMB1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: LAMB1.
Mitochondrial disorders v3.6 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Neurodegenerative disorders, adult onset v3.49 GSN Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GSN.
Mitochondrial disorders v3.6 POLRMT Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: POLRMT.
Neurodegenerative disorders, adult onset v3.49 GLA Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GLA.
Neurodegenerative disorders, adult onset v3.49 CTSA Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CTSA.
Mitochondrial disorders v3.6 NSUN3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3.
Neurodegenerative disorders, adult onset v3.49 COL4A2 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: COL4A2.
Neurodegenerative disorders, adult onset v3.49 COL4A1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: COL4A1.
Neurodegenerative disorders, adult onset v3.49 SOD1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: SOD1.
Mitochondrial disorders v3.6 NDUFC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFC2.
Neurodegenerative disorders, adult onset v3.49 FIG4 Arina Puzriakova Tag Q3_21_MOI was removed from gene: FIG4.
Neurodegenerative disorders, adult onset v3.49 CLCN2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLCN2.
Neurodegenerative disorders, adult onset v3.49 C19orf12 Arina Puzriakova Tag Q2_22_MOI was removed from gene: C19orf12.
Neurodegenerative disorders, adult onset v3.49 XK Arina Puzriakova Tag Q3_22_rating was removed from gene: XK.
Neurodegenerative disorders, adult onset v3.49 STUB1 Arina Puzriakova Tag Q3_22_rating was removed from gene: STUB1.
Tag Q3_22_MOI was removed from gene: STUB1.
Tag Q3_22_expert_review was removed from gene: STUB1.
Mitochondrial disorders v3.6 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Mitochondrial disorders v3.6 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Neurodegenerative disorders, adult onset v3.49 CST3 Arina Puzriakova reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 TTR Arina Puzriakova reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 TREX1 Arina Puzriakova reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 LAMB1 Arina Puzriakova reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 GSN Arina Puzriakova reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 GLA Arina Puzriakova reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 CTSA Arina Puzriakova reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 COL4A2 Arina Puzriakova reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 COL4A1 Arina Puzriakova reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v3.49 SOD1 Arina Puzriakova commented on gene: SOD1
Neurodegenerative disorders, adult onset v3.49 FIG4 Arina Puzriakova commented on gene: FIG4
Neurodegenerative disorders, adult onset v3.49 CLCN2 Arina Puzriakova commented on gene: CLCN2: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Neurodegenerative disorders, adult onset v3.49 C19orf12 Arina Puzriakova commented on gene: C19orf12
Neurodegenerative disorders, adult onset v3.49 XK Arina Puzriakova edited their review of gene: XK: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Neurodegenerative disorders, adult onset v3.49 STUB1 Arina Puzriakova reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Neurodegenerative disorders, adult onset v3.48 XK Arina Puzriakova Source NHS GMS was added to XK.
Source Expert Review Green was added to XK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 TTR Arina Puzriakova Source NHS GMS was added to TTR.
Source Expert Review Green was added to TTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 TREX1 Arina Puzriakova Source NHS GMS was added to TREX1.
Source Expert Review Green was added to TREX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 STUB1 Arina Puzriakova Source Expert Review Green was added to STUB1.
Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 SOD1 Arina Puzriakova Mode of inheritance for gene SOD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v3.48 LAMB1 Arina Puzriakova Source NHS GMS was added to LAMB1.
Source Expert Review Green was added to LAMB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 GSN Arina Puzriakova Source NHS GMS was added to GSN.
Source Expert Review Green was added to GSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 GLA Arina Puzriakova Source NHS GMS was added to GLA.
Source Expert Review Green was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 FIG4 Arina Puzriakova Mode of inheritance for gene FIG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v3.48 CTSA Arina Puzriakova Source NHS GMS was added to CTSA.
Source Expert Review Green was added to CTSA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 CST3 Arina Puzriakova Source NHS GMS was added to CST3.
Neurodegenerative disorders, adult onset v3.48 COL4A2 Arina Puzriakova Source NHS GMS was added to COL4A2.
Source Expert Review Green was added to COL4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 COL4A1 Arina Puzriakova Source NHS GMS was added to COL4A1.
Source Expert Review Green was added to COL4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v3.48 CLCN2 Arina Puzriakova Mode of inheritance for gene CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v3.48 C19orf12 Arina Puzriakova Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v3.6 LYRM4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: LYRM4.
Mitochondrial disorders v3.6 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Mitochondrial disorders v3.6 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Mitochondrial disorders v3.6 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Mitochondrial disorders v3.6 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 MARS2 Achchuthan Shanmugasundram reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 COX14 Achchuthan Shanmugasundram reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 TARS2 Achchuthan Shanmugasundram commented on gene: TARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Mitochondrial disorders v3.6 SSBP1 Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NFS1 Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NAXD Achchuthan Shanmugasundram reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 KIAA0391 Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 CLPB Achchuthan Shanmugasundram commented on gene: CLPB
Mitochondrial disorders v3.6 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Mitochondrial disorders v3.6 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 SDHB Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Mitochondrial disorders v3.6 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NSUN3 Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFC2 Achchuthan Shanmugasundram reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 LYRM4 Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.5 UQCRFS1 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRFS1.
Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 UQCRC2 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRC2.
Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 TIMMDC1 Achchuthan Shanmugasundram Source NHS GMS was added to TIMMDC1.
Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 TFAM Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 TARS2 Achchuthan Shanmugasundram Source NHS GMS was added to TARS2.
Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 SSBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 SDHB Achchuthan Shanmugasundram Source NHS GMS was added to SDHB.
Source Expert Review Green was added to SDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 SDHA Achchuthan Shanmugasundram Source NHS GMS was added to SDHA.
Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v3.5 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NSUN3 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NFS1 Achchuthan Shanmugasundram Source NHS GMS was added to NFS1.
Source Expert Review Green was added to NFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFC2 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFC2.
Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFB10 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFB10.
Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFA8 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA8.
Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFA13 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA13.
Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFA12 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA12.
Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NAXD Achchuthan Shanmugasundram Source NHS GMS was added to NAXD.
Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 LYRM4 Achchuthan Shanmugasundram Source NHS GMS was added to LYRM4.
Source Expert Review Green was added to LYRM4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 LIG3 Achchuthan Shanmugasundram Source NHS GMS was added to LIG3.
Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 KIAA0391 Achchuthan Shanmugasundram Source NHS GMS was added to KIAA0391.
Source Expert Review Green was added to KIAA0391.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 COX14 Achchuthan Shanmugasundram Source Expert Review Amber was added to COX14.
Source NHS GMS was added to COX14.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mitochondrial disorders v3.5 CLPB Achchuthan Shanmugasundram Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v3.5 ATP5G3 Achchuthan Shanmugasundram Source NHS GMS was added to ATP5G3.
Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 ATP5A1 Achchuthan Shanmugasundram Source NHS GMS was added to ATP5A1.
Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 ACO2 Achchuthan Shanmugasundram Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v1.17 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Tag Q3_22_NHS_review was removed from gene: ATP5G3.
Mitochondrial disorder with complex V deficiency v1.17 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Tag Q3_22_NHS_review was removed from gene: ATP5A1.
Mitochondrial disorder with complex V deficiency v1.17 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex V deficiency v1.17 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex V deficiency v1.16 ATP5G3 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex V deficiency v1.16 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.11 DAG1 Arina Puzriakova Tag Q3_22_rating was removed from gene: DAG1.
Tag Q3_22_expert_review was removed from gene: DAG1.
Malformations of cortical development v3.11 DAG1 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. Additional commends from reviewing GLHs: "Clearly disease-causing. Cobblestone lissencephaly is a feature of MDDGC disorders and probably overlaps this panel. Reasonable to retain I think."
Malformations of cortical development v3.11 TP73 Arina Puzriakova Tag Q3_21_rating was removed from gene: TP73.
Malformations of cortical development v3.11 TBC1D32 Arina Puzriakova Tag Q3_21_rating was removed from gene: TBC1D32.
Malformations of cortical development v3.11 SOX11 Arina Puzriakova Tag Q2_22_rating was removed from gene: SOX11.
Tag Q2_22_NHS_review was removed from gene: SOX11.
Malformations of cortical development v3.11 SCN3A Arina Puzriakova Tag Q4_21_rating was removed from gene: SCN3A.
Malformations of cortical development v3.11 RAB3GAP2 Arina Puzriakova Tag Q4_21_rating was removed from gene: RAB3GAP2.
Malformations of cortical development v3.11 RAB3GAP1 Arina Puzriakova Tag Q4_21_rating was removed from gene: RAB3GAP1.
Malformations of cortical development v3.11 RAB18 Arina Puzriakova Tag Q4_21_rating was removed from gene: RAB18.
Malformations of cortical development v3.11 PTEN Arina Puzriakova Tag Q4_21_rating was removed from gene: PTEN.
Malformations of cortical development v3.11 PIDD1 Arina Puzriakova Tag Q3_21_rating was removed from gene: PIDD1.
Malformations of cortical development v3.11 PI4KA Arina Puzriakova Tag Q4_21_rating was removed from gene: PI4KA.
Malformations of cortical development v3.11 PEX6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
Malformations of cortical development v3.11 NPRL3 Arina Puzriakova Tag Q4_21_rating was removed from gene: NPRL3.
Malformations of cortical development v3.11 NPRL2 Arina Puzriakova Tag Q4_21_rating was removed from gene: NPRL2.
Malformations of cortical development v3.11 MAPK8IP3 Arina Puzriakova Tag Q4_21_rating was removed from gene: MAPK8IP3.
Mitochondrial disorder with complex IV deficiency v2.5 FASTKD2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: FASTKD2.
Tag Q3_22_NHS_review was removed from gene: FASTKD2.
Tag Q3_22_expert_review was removed from gene: FASTKD2.
Malformations of cortical development v3.11 GRIN2B Arina Puzriakova Tag Q4_21_rating was removed from gene: GRIN2B.
Malformations of cortical development v3.11 GRIN1 Arina Puzriakova Tag Q3_21_rating was removed from gene: GRIN1.
Mitochondrial disorder with complex IV deficiency v2.5 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Tag Q3_22_NHS_review was removed from gene: COX6A2.
Malformations of cortical development v3.11 EML1 Arina Puzriakova Tag Q3_21_rating was removed from gene: EML1.
Malformations of cortical development v3.11 DPYSL5 Arina Puzriakova Tag Q3_21_rating was removed from gene: DPYSL5.
Malformations of cortical development v3.11 DEPDC5 Arina Puzriakova Tag Q3_21_rating was removed from gene: DEPDC5.
Malformations of cortical development v3.11 DCHS1 Arina Puzriakova Tag Q3_21_rating was removed from gene: DCHS1.
Malformations of cortical development v3.11 CTNNA2 Arina Puzriakova Tag Q3_21_rating was removed from gene: CTNNA2.
Malformations of cortical development v3.11 B4GAT1 Arina Puzriakova Tag Q3_21_rating was removed from gene: B4GAT1.
Malformations of cortical development v3.11 ATP1A3 Arina Puzriakova Tag Q4_21_rating was removed from gene: ATP1A3.
Malformations of cortical development v3.11 ARF1 Arina Puzriakova Tag Q3_21_rating was removed from gene: ARF1.
Malformations of cortical development v3.11 PEX7 Arina Puzriakova Tag Q3_21_rating was removed from gene: PEX7.
Tag Q3_21_expert_review was removed from gene: PEX7.
Malformations of cortical development v3.11 EMX2 Arina Puzriakova Tag Q2_22_rating was removed from gene: EMX2.
Tag Q2_22_expert_review was removed from gene: EMX2.
Malformations of cortical development v3.11 NSRP1 Arina Puzriakova Tag Q3_22_rating was removed from gene: NSRP1.
Mitochondrial disorder with complex IV deficiency v2.5 FASTKD2 Achchuthan Shanmugasundram reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex IV deficiency v2.5 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex IV deficiency v2.4 FASTKD2 Achchuthan Shanmugasundram Source Expert Review Red was added to FASTKD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v2.4 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex III deficiency v1.19 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Tag Q3_22_NHS_review was removed from gene: UQCRFS1.
Mitochondrial disorder with complex III deficiency v1.19 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Tag Q3_22_NHS_review was removed from gene: UQCRC2.
Mitochondrial disorder with complex III deficiency v1.19 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex III deficiency v1.19 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex III deficiency v1.18 UQCRFS1 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex III deficiency v1.18 UQCRC2 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex II deficiency v1.11 SDHB Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB.
Tag Q3_22_NHS_review was removed from gene: SDHB.
Mitochondrial disorder with complex II deficiency v1.11 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Tag Q3_22_NHS_review was removed from gene: SDHA.
Mitochondrial disorder with complex II deficiency v1.11 SDHB Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex II deficiency v1.11 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Mitochondrial disorder with complex II deficiency v1.10 SDHB Achchuthan Shanmugasundram Source Expert Review Green was added to SDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex II deficiency v1.10 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v2.3 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Tag Q3_22_NHS_review was removed from gene: TIMMDC1.
Mitochondrial disorder with complex I deficiency v2.3 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Tag Q3_22_NHS_review was removed from gene: NDUFB10.
Mitochondrial disorder with complex I deficiency v2.3 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Tag Q3_22_NHS_review was removed from gene: NDUFA8.
Mitochondrial disorder with complex I deficiency v2.3 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Tag Q3_22_NHS_review was removed from gene: NDUFA13.
Mitochondrial disorder with complex I deficiency v2.3 NDUFA12 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA12.
Tag Q3_22_NHS_review was removed from gene: NDUFA12.
Malformations of cortical development v3.11 DAG1 Arina Puzriakova commented on gene: DAG1
Malformations of cortical development v3.11 TP73 Arina Puzriakova commented on gene: TP73: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Malformations of cortical development v3.11 TBC1D32 Arina Puzriakova reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 SOX11 Arina Puzriakova reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 SCN3A Arina Puzriakova reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 RAB3GAP2 Arina Puzriakova reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 RAB3GAP1 Arina Puzriakova reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 RAB18 Arina Puzriakova reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 PIDD1 Arina Puzriakova commented on gene: PIDD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Malformations of cortical development v3.11 PI4KA Arina Puzriakova reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 PEX6 Arina Puzriakova commented on gene: PEX6
Malformations of cortical development v3.11 NPRL3 Arina Puzriakova reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 NPRL2 Arina Puzriakova reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 MAPK8IP3 Arina Puzriakova edited their review of gene: MAPK8IP3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Malformations of cortical development v3.11 GRIN2B Arina Puzriakova reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 GRIN1 Arina Puzriakova reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 EML1 Arina Puzriakova edited their review of gene: EML1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Malformations of cortical development v3.11 DPYSL5 Arina Puzriakova reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 DEPDC5 Arina Puzriakova edited their review of gene: DEPDC5: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Malformations of cortical development v3.11 DCHS1 Arina Puzriakova edited their review of gene: DCHS1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Malformations of cortical development v3.11 CTNNA2 Arina Puzriakova edited their review of gene: CTNNA2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Malformations of cortical development v3.11 B4GAT1 Arina Puzriakova reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 ATP1A3 Arina Puzriakova reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 ARF1 Arina Puzriakova edited their review of gene: ARF1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Malformations of cortical development v3.11 PEX7 Arina Puzriakova edited their review of gene: PEX7: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Malformations of cortical development v3.11 EMX2 Arina Puzriakova reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Malformations of cortical development v3.11 NSRP1 Arina Puzriakova edited their review of gene: NSRP1: Added comment: 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.; Changed rating: GREEN
Malformations of cortical development v3.10 TP73 Arina Puzriakova Source Expert Review Green was added to TP73.
Source NHS GMS was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 TBC1D32 Arina Puzriakova Source Expert Review Green was added to TBC1D32.
Source NHS GMS was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 SOX11 Arina Puzriakova Source Expert Review Green was added to SOX11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 SCN3A Arina Puzriakova Source Expert Review Green was added to SCN3A.
Source NHS GMS was added to SCN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 RAB3GAP2 Arina Puzriakova Source Expert Review Green was added to RAB3GAP2.
Source NHS GMS was added to RAB3GAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 RAB3GAP1 Arina Puzriakova Source Expert Review Green was added to RAB3GAP1.
Source NHS GMS was added to RAB3GAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 RAB18 Arina Puzriakova Source Expert Review Green was added to RAB18.
Source NHS GMS was added to RAB18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 PTEN Arina Puzriakova Source Expert Review Green was added to PTEN.
Source NHS GMS was added to PTEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 PIDD1 Arina Puzriakova Source Expert Review Green was added to PIDD1.
Source NHS GMS was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Source NHS GMS was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 PEX7 Arina Puzriakova Source NHS GMS was added to PEX7.
Source Expert Review Red was added to PEX7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Malformations of cortical development v3.10 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Malformations of cortical development v3.10 NSRP1 Arina Puzriakova Source Expert Review Green was added to NSRP1.
Source NHS GMS was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 NPRL3 Arina Puzriakova Source Expert Review Green was added to NPRL3.
Source NHS GMS was added to NPRL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 NPRL2 Arina Puzriakova Source Expert Review Green was added to NPRL2.
Source NHS GMS was added to NPRL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 MAPK8IP3 Arina Puzriakova Source Expert Review Green was added to MAPK8IP3.
Source NHS GMS was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 GRIN2B Arina Puzriakova Source Expert Review Green was added to GRIN2B.
Source NHS GMS was added to GRIN2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 GRIN1 Arina Puzriakova Source Expert Review Green was added to GRIN1.
Source NHS GMS was added to GRIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 EMX2 Arina Puzriakova Source NHS GMS was added to EMX2.
Source Expert Review Amber was added to EMX2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Malformations of cortical development v3.10 EML1 Arina Puzriakova Source Expert Review Green was added to EML1.
Source NHS GMS was added to EML1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 DPYSL5 Arina Puzriakova Source Expert Review Green was added to DPYSL5.
Source NHS GMS was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 DEPDC5 Arina Puzriakova Source Expert Review Green was added to DEPDC5.
Source NHS GMS was added to DEPDC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 DCHS1 Arina Puzriakova Source Expert Review Green was added to DCHS1.
Source NHS GMS was added to DCHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 CTNNA2 Arina Puzriakova Source Expert Review Green was added to CTNNA2.
Source NHS GMS was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 B4GAT1 Arina Puzriakova Source Expert Review Green was added to B4GAT1.
Source NHS GMS was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 ATP1A3 Arina Puzriakova Source Expert Review Green was added to ATP1A3.
Source NHS GMS was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v3.10 ARF1 Arina Puzriakova Source Expert Review Green was added to ARF1.
Source NHS GMS was added to ARF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v2.3 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.3 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.3 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.3 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.3 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.2 TIMMDC1 Achchuthan Shanmugasundram Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v2.2 NDUFB10 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v2.2 NDUFA8 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v2.2 NDUFA13 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v2.2 NDUFA12 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 SYNE2 Arina Puzriakova Tag Q3_22_MOI was removed from gene: SYNE2.
Tag Q3_22_NHS_review was removed from gene: SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 MTM1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 SYNE2 Arina Puzriakova commented on gene: SYNE2
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 MTM1 Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Neuronal ceroid lipofuscinosis v1.27 CLCN6 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: CLCN6.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.5 SYNE2 Arina Puzriakova Mode of inheritance for gene SYNE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.5 MTM1 Arina Puzriakova Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neuronal ceroid lipofuscinosis v1.27 CLCN6 Achchuthan Shanmugasundram reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neuronal ceroid lipofuscinosis v1.26 CLCN6 Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.3 VPS33A Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: VPS33A.
Tag Q3_22_expert_review was removed from gene: VPS33A.
Lysosomal storage disorder v2.3 GNE Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: GNE.
Lysosomal storage disorder v2.3 CTSF Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: CTSF.
Lysosomal storage disorder v2.3 ATP13A2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ATP13A2.
Lysosomal storage disorder v2.3 ARSG Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ARSG.
Lysosomal storage disorder v2.3 VPS33A Achchuthan Shanmugasundram reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.3 GNE Achchuthan Shanmugasundram commented on gene: GNE
Lysosomal storage disorder v2.3 CTSF Achchuthan Shanmugasundram reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.3 ATP13A2 Achchuthan Shanmugasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.3 ARSG Achchuthan Shanmugasundram reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.2 VPS33A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS33A.
Source NHS GMS was added to VPS33A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.2 GNE Achchuthan Shanmugasundram Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v2.2 CTSF Achchuthan Shanmugasundram Source Expert Review Green was added to CTSF.
Source NHS GMS was added to CTSF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.2 ATP13A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP13A2.
Source NHS GMS was added to ATP13A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v2.2 ARSG Achchuthan Shanmugasundram Source Expert Review Green was added to ARSG.
Source NHS GMS was added to ARSG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Familial Chylomicronaemia Syndrome v2.3 APOA5 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: APOA5.
Familial Chylomicronaemia Syndrome v2.3 APOA5 Achchuthan Shanmugasundram commented on gene: APOA5
Familial Chylomicronaemia Syndrome v2.2 APOA5 Achchuthan Shanmugasundram Mode of inheritance for gene APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v3.30 YIPF5 Arina Puzriakova Tag Q2_21_rating was removed from gene: YIPF5.
Early onset or syndromic epilepsy v3.30 TNPO2 Arina Puzriakova Tag Q3_21_rating was removed from gene: TNPO2.
Early onset or syndromic epilepsy v3.30 TMEM222 Arina Puzriakova Tag Q2_21_rating was removed from gene: TMEM222.
Early onset or syndromic epilepsy v3.30 SPATA5L1 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1.
Early onset or syndromic epilepsy v3.30 SPTBN1 Arina Puzriakova Tag Q3_21_rating was removed from gene: SPTBN1.
Early onset or syndromic epilepsy v3.30 SATB1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SATB1.
Early onset or syndromic epilepsy v3.30 SCAMP5 Arina Puzriakova Tag watchlist was removed from gene: SCAMP5.
Tag Q2_21_rating was removed from gene: SCAMP5.
Likely inborn error of metabolism v3.6 XPNPEP3 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: XPNPEP3.
Early onset or syndromic epilepsy v3.30 PRPF8 Arina Puzriakova Tag Q2_22_rating was removed from gene: PRPF8.
Early onset or syndromic epilepsy v3.30 PMPCB Arina Puzriakova Tag Q2_21_rating was removed from gene: PMPCB.
Likely inborn error of metabolism v3.6 SSBP1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1.
Early onset or syndromic epilepsy v3.30 PIDD1 Arina Puzriakova Tag Q3_21_rating was removed from gene: PIDD1.
Early onset or syndromic epilepsy v3.30 PGM2L1 Arina Puzriakova Tag Q3_21_rating was removed from gene: PGM2L1.
Early onset or syndromic epilepsy v3.30 PCDHGC4 Arina Puzriakova Tag Q3_21_rating was removed from gene: PCDHGC4.
Likely inborn error of metabolism v3.6 SPTLC1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SPTLC1.
Likely inborn error of metabolism v3.6 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Likely inborn error of metabolism v3.6 GNE Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: GNE.
Likely inborn error of metabolism v3.6 CPT2 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: CPT2.
Likely inborn error of metabolism v3.6 C19orf12 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: C19orf12.
Likely inborn error of metabolism v3.6 APOB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: APOB.
Likely inborn error of metabolism v3.6 APOA5 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: APOA5.
Likely inborn error of metabolism v3.6 ALDH18A1 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: ALDH18A1.
Early onset or syndromic epilepsy v3.30 NEUROD2 Arina Puzriakova Tag Q2_21_rating was removed from gene: NEUROD2.
Early onset or syndromic epilepsy v3.30 NAPB Arina Puzriakova Tag Q2_22_rating was removed from gene: NAPB.
Tag Q2_22_NHS_review was removed from gene: NAPB.
Likely inborn error of metabolism v3.6 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Early onset or syndromic epilepsy v3.30 MINPP1 Arina Puzriakova Tag Q2_21_rating was removed from gene: MINPP1.
Early onset or syndromic epilepsy v3.30 MED27 Arina Puzriakova Tag Q2_21_rating was removed from gene: MED27.
Early onset or syndromic epilepsy v3.30 KCND2 Arina Puzriakova Tag Q4_21_rating was removed from gene: KCND2.
Early onset or syndromic epilepsy v3.30 KCNH1 Arina Puzriakova Tag Q2_21_rating was removed from gene: KCNH1.
Likely inborn error of metabolism v3.6 PDK3 Achchuthan Shanmugasundram Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q2_22_rating was removed from gene: PDK3.
Tag Q2_22_expert_review was removed from gene: PDK3.
Early onset or syndromic epilepsy v3.30 KCNC2 Arina Puzriakova Tag Q2_22_rating was removed from gene: KCNC2.
Early onset or syndromic epilepsy v3.30 HID1 Arina Puzriakova Tag Q3_21_rating was removed from gene: HID1.
Early onset or syndromic epilepsy v3.30 GRIK2 Arina Puzriakova Tag Q4_21_rating was removed from gene: GRIK2.
Likely inborn error of metabolism v3.6 GORAB Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: GORAB.
Tag Q2_22_rating was removed from gene: GORAB.
Tag Q2_22_expert_review was removed from gene: GORAB.
Early onset or syndromic epilepsy v3.30 EMC10 Arina Puzriakova Tag Q2_21_rating was removed from gene: EMC10.
Early onset or syndromic epilepsy v3.30 DTYMK Arina Puzriakova Tag Q2_22_rating was removed from gene: DTYMK.
Early onset or syndromic epilepsy v3.30 DROSHA Arina Puzriakova Tag Q2_22_rating was removed from gene: DROSHA.
Likely inborn error of metabolism v3.6 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Early onset or syndromic epilepsy v3.30 DHDDS Arina Puzriakova Tag Q4_21_MOI was removed from gene: DHDDS.
Early onset or syndromic epilepsy v3.30 DEAF1 Arina Puzriakova Tag Q4_21_MOI was removed from gene: DEAF1.
Likely inborn error of metabolism v3.6 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Early onset or syndromic epilepsy v3.30 CLCN3 Arina Puzriakova Tag Q3_21_rating was removed from gene: CLCN3.
Early onset or syndromic epilepsy v3.30 CHD5 Arina Puzriakova Tag Q3_21_rating was removed from gene: CHD5.
Early onset or syndromic epilepsy v3.30 CELF2 Arina Puzriakova Tag Q2_22_rating was removed from gene: CELF2.
Tag Q2_22_NHS_review was removed from gene: CELF2.
Likely inborn error of metabolism v3.6 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Early onset or syndromic epilepsy v3.30 CACNA1I Arina Puzriakova Tag Q4_21_rating was removed from gene: CACNA1I.
Early onset or syndromic epilepsy v3.30 ARFGEF1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ARFGEF1.
Early onset or syndromic epilepsy v3.30 ARF1 Arina Puzriakova Tag Q3_21_rating was removed from gene: ARF1.
Likely inborn error of metabolism v3.6 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Early onset or syndromic epilepsy v3.30 AP1G1 Arina Puzriakova Tag Q3_21_rating was removed from gene: AP1G1.
Early onset or syndromic epilepsy v3.30 ACOX1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: ACOX1.
Likely inborn error of metabolism v3.6 STT3A Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: STT3A.
Likely inborn error of metabolism v3.6 SLC37A4 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SLC37A4.
Likely inborn error of metabolism v3.6 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Likely inborn error of metabolism v3.6 NSUN3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3.
Likely inborn error of metabolism v3.6 NFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NFS1.
Tag treatable tag was added to gene: NFS1.
Likely inborn error of metabolism v3.6 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Likely inborn error of metabolism v3.6 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Likely inborn error of metabolism v3.6 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Likely inborn error of metabolism v3.6 LYRM4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: LYRM4.
Likely inborn error of metabolism v3.6 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Likely inborn error of metabolism v3.6 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Hereditary neuropathy or pain disorder v2.18 SLC5A6 Mafalda Gomes Tag Q2_21_NHS_review was removed from gene: SLC5A6.
Tag Q2_22_rating was removed from gene: SLC5A6.
Hereditary neuropathy or pain disorder v2.18 SH3TC2 Mafalda Gomes Tag Q2_22_MOI was removed from gene: SH3TC2.
Early onset or syndromic epilepsy v3.30 CERS1 Arina Puzriakova Tag Q2_21_rating was removed from gene: CERS1.
Tag Q3_21_expert_review was removed from gene: CERS1.
Tag Q3_21_phenotype was removed from gene: CERS1.
Tag Q3_22_NHS_review was removed from gene: CERS1.
Hereditary neuropathy or pain disorder v2.18 PDK3 Mafalda Gomes Tag Q1_22_rating was removed from gene: PDK3.
Early onset or syndromic epilepsy v3.30 WNK3 Arina Puzriakova Tag Q3_22_rating was removed from gene: WNK3.
Early onset or syndromic epilepsy v3.30 TIAM1 Arina Puzriakova Tag Q3_22_rating was removed from gene: TIAM1.
Tag Q3_22_MOI was removed from gene: TIAM1.
Hereditary neuropathy or pain disorder v2.18 OPA1 Mafalda Gomes Tag Q2_22_rating was removed from gene: OPA1.
Early onset or syndromic epilepsy v3.30 TAF8 Arina Puzriakova Tag Q3_22_rating was removed from gene: TAF8.
Early onset or syndromic epilepsy v3.30 SNIP1 Arina Puzriakova Tag Q3_22_rating was removed from gene: SNIP1.
Tag Q3_22_expert_review was removed from gene: SNIP1.
Early onset or syndromic epilepsy v3.30 SLC38A3 Arina Puzriakova Tag Q3_22_rating was removed from gene: SLC38A3.
Hereditary neuropathy or pain disorder v2.18 FIG4 Mafalda Gomes Tag Q3_21_MOI was removed from gene: FIG4.
Early onset or syndromic epilepsy v3.30 OGDHL Arina Puzriakova Tag Q3_22_rating was removed from gene: OGDHL.
Early onset or syndromic epilepsy v3.30 NSRP1 Arina Puzriakova Tag Q3_22_rating was removed from gene: NSRP1.
Hereditary neuropathy or pain disorder v2.18 CPOX Mafalda Gomes Tag Q4_21_MOI was removed from gene: CPOX.
Early onset or syndromic epilepsy v3.30 GLRA2 Arina Puzriakova Tag Q3_22_rating was removed from gene: GLRA2.
Tag Q3_22_MOI was removed from gene: GLRA2.
Early onset or syndromic epilepsy v3.30 FBXO28 Arina Puzriakova Tag Q3_22_rating was removed from gene: FBXO28.
Tag Q3_22_MOI was removed from gene: FBXO28.
Early onset or syndromic epilepsy v3.30 FASTKD2 Arina Puzriakova Tag Q3_22_rating was removed from gene: FASTKD2.
Early onset or syndromic epilepsy v3.30 CUL3 Arina Puzriakova Tag Q3_22_rating was removed from gene: CUL3.
Hereditary neuropathy or pain disorder v2.18 TFG Mafalda Gomes Tag Q3_21_MOI was removed from gene: TFG.
Tag Q3_21_expert_review was removed from gene: TFG.
Early onset or syndromic epilepsy v3.30 CLPB Arina Puzriakova Tag Q3_22_rating was removed from gene: CLPB.
Tag Q3_22_MOI was removed from gene: CLPB.
Tag Q3_22_expert_review was removed from gene: CLPB.
Early onset or syndromic epilepsy v3.30 CHKA Arina Puzriakova Tag Q3_22_rating was removed from gene: CHKA.
Tag Q3_22_MOI was removed from gene: CHKA.
Early onset or syndromic epilepsy v3.30 CACNA1A Arina Puzriakova Tag Q3_22_MOI was removed from gene: CACNA1A.
Tag Q3_22_NHS_review was removed from gene: CACNA1A.
Early onset or syndromic epilepsy v3.30 ATP6V0A1 Arina Puzriakova Tag watchlist_moi tag was added to gene: ATP6V0A1.
Likely inborn error of metabolism v3.6 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 SSBP1 Achchuthan Shanmugasundram commented on gene: SSBP1
Likely inborn error of metabolism v3.6 SPTLC1 Achchuthan Shanmugasundram commented on gene: SPTLC1
Likely inborn error of metabolism v3.6 PEX6 Achchuthan Shanmugasundram commented on gene: PEX6
Likely inborn error of metabolism v3.6 GNE Achchuthan Shanmugasundram commented on gene: GNE
Likely inborn error of metabolism v3.6 CPT2 Achchuthan Shanmugasundram commented on gene: CPT2
Likely inborn error of metabolism v3.6 C19orf12 Achchuthan Shanmugasundram commented on gene: C19orf12
Likely inborn error of metabolism v3.6 APOB Achchuthan Shanmugasundram commented on gene: APOB
Likely inborn error of metabolism v3.6 APOA5 Achchuthan Shanmugasundram commented on gene: APOA5
Likely inborn error of metabolism v3.6 ALDH18A1 Achchuthan Shanmugasundram commented on gene: ALDH18A1
Likely inborn error of metabolism v3.6 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Likely inborn error of metabolism v3.6 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 GORAB Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 STT3A Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 SLC37A4 Achchuthan Shanmugasundram commented on gene: SLC37A4
Likely inborn error of metabolism v3.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Likely inborn error of metabolism v3.6 NSUN3 Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 NFS1 Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 LYRM4 Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.6 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.30 ATP6V0A1 Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP6V0A1.
Tag Q3_22_MOI was removed from gene: ATP6V0A1.
Early onset or syndromic epilepsy v3.30 ASH1L Arina Puzriakova Publications for gene: ASH1L were set to 34373061; 25961944
Likely inborn error of metabolism v3.5 XPNPEP3 Achchuthan Shanmugasundram Source NHS GMS was added to XPNPEP3.
Source Expert Review Green was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 UQCRFS1 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRFS1.
Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 UQCRC2 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRC2.
Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 TIMMDC1 Achchuthan Shanmugasundram Source NHS GMS was added to TIMMDC1.
Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 TFAM Achchuthan Shanmugasundram Source NHS GMS was added to TFAM.
Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 STT3A Achchuthan Shanmugasundram Source NHS GMS was added to STT3A.
Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 SSBP1 Achchuthan Shanmugasundram Source NHS GMS was added to SSBP1.
Mode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 SPTLC1 Achchuthan Shanmugasundram Mode of inheritance for gene SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v3.5 SLC37A4 Achchuthan Shanmugasundram Mode of inheritance for gene SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 PEX6 Achchuthan Shanmugasundram Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 PDK3 Achchuthan Shanmugasundram Source Expert Review Green was added to PDK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 NSUN3 Achchuthan Shanmugasundram Source NHS GMS was added to NSUN3.
Source Expert Review Green was added to NSUN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 NFS1 Achchuthan Shanmugasundram Source NHS GMS was added to NFS1.
Source Expert Review Green was added to NFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 NDUFB10 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFB10.
Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 NDUFA8 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA8.
Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 NDUFA13 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA13.
Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 LYRM4 Achchuthan Shanmugasundram Source NHS GMS was added to LYRM4.
Source Expert Review Green was added to LYRM4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 GORAB Achchuthan Shanmugasundram Source NHS GMS was added to GORAB.
Source Expert Review Green was added to GORAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 GNE Achchuthan Shanmugasundram Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 CPT2 Achchuthan Shanmugasundram Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 C19orf12 Achchuthan Shanmugasundram Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 ATP5G3 Achchuthan Shanmugasundram Source NHS GMS was added to ATP5G3.
Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v3.5 APOB Achchuthan Shanmugasundram Mode of inheritance for gene APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v2.18 KIF1A Mafalda Gomes Tag Q3_21_MOI was removed from gene: KIF1A.
Likely inborn error of metabolism v3.5 APOA5 Achchuthan Shanmugasundram Mode of inheritance for gene APOA5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 ALDH18A1 Achchuthan Shanmugasundram Mode of inheritance for gene ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v3.5 ACO2 Achchuthan Shanmugasundram Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v2.18 TFG Eleanor Williams commented on gene: TFG
Hereditary neuropathy or pain disorder v2.18 SLC5A6 Eleanor Williams reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy or pain disorder v2.18 SH3TC2 Eleanor Williams commented on gene: SH3TC2
Hereditary neuropathy or pain disorder v2.18 PDK3 Eleanor Williams reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy or pain disorder v2.18 OPA1 Eleanor Williams reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy or pain disorder v2.18 KIF1A Eleanor Williams commented on gene: KIF1A
Hereditary neuropathy or pain disorder v2.18 FIG4 Eleanor Williams commented on gene: FIG4
Hereditary neuropathy or pain disorder v2.18 CPOX Eleanor Williams commented on gene: CPOX
Hereditary neuropathy or pain disorder v2.17 TFG Mafalda Gomes Mode of inheritance for gene TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v2.17 SLC5A6 Mafalda Gomes Source Expert Review Green was added to SLC5A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v2.17 SH3TC2 Mafalda Gomes Mode of inheritance for gene SH3TC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v2.17 PDK3 Mafalda Gomes Source Expert Review Green was added to PDK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v2.17 OPA1 Mafalda Gomes Source Expert Review Green was added to OPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v2.17 KIF1A Mafalda Gomes Mode of inheritance for gene KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v2.17 FIG4 Mafalda Gomes Mode of inheritance for gene FIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v2.17 CPOX Mafalda Gomes Mode of inheritance for gene CPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glycogen storage disease v1.10 RBCK1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: RBCK1.
Glycogen storage disease v1.10 RBCK1 Achchuthan Shanmugasundram reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Glycogen storage disease v1.9 RBCK1 Achchuthan Shanmugasundram Source Expert Review Green was added to RBCK1.
Source NHS GMS was added to RBCK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.4 TMEM199 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: TMEM199.
Congenital disorders of glycosylation v3.4 SLC35A2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: SLC35A2.
Congenital disorders of glycosylation v3.4 POMK Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: POMK.
Congenital disorders of glycosylation v3.4 PIGW Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PIGW.
Congenital disorders of glycosylation v3.4 G6PC3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: G6PC3.
Congenital disorders of glycosylation v3.4 EOGT Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: EOGT.
Congenital disorders of glycosylation v3.4 DPM2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: DPM2.
Congenital disorders of glycosylation v3.4 B4GALNT1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: B4GALNT1.
Congenital disorders of glycosylation v3.4 MAGT1 Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: MAGT1.
Tag Q2_22_rating was removed from gene: MAGT1.
Tag Q2_22_expert_review was removed from gene: MAGT1.
Congenital disorders of glycosylation v3.4 GORAB Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: GORAB.
Tag Q2_22_rating was removed from gene: GORAB.
Tag Q2_22_expert_review was removed from gene: GORAB.
Congenital disorders of glycosylation v3.4 STT3A Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: STT3A.
Early onset or syndromic epilepsy v3.29 ASH1L Arina Puzriakova Tag Q3_22_rating was removed from gene: ASH1L.
Tag Q3_22_expert_review was removed from gene: ASH1L.
Early onset or syndromic epilepsy v3.29 CACNA1C Arina Puzriakova reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 YIPF5 Arina Puzriakova edited their review of gene: YIPF5: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 TNPO2 Arina Puzriakova commented on gene: TNPO2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 TMEM222 Arina Puzriakova reviewed gene: TMEM222: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 SPTBN1 Arina Puzriakova reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 SPATA5L1 Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 SCAMP5 Arina Puzriakova reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 SATB1 Arina Puzriakova commented on gene: SATB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 PRPF8 Arina Puzriakova reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 PMPCB Arina Puzriakova reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 PIDD1 Arina Puzriakova edited their review of gene: PIDD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 PGM2L1 Arina Puzriakova edited their review of gene: PGM2L1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 PCDHGC4 Arina Puzriakova reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 NEUROD2 Arina Puzriakova commented on gene: NEUROD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 NAPB Arina Puzriakova edited their review of gene: NAPB: Added comment: 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.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 MINPP1 Arina Puzriakova edited their review of gene: MINPP1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 MED27 Arina Puzriakova commented on gene: MED27: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 KCNH1 Arina Puzriakova commented on gene: KCNH1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 KCND2 Arina Puzriakova reviewed gene: KCND2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 KCNC2 Arina Puzriakova reviewed gene: KCNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 HID1 Arina Puzriakova commented on gene: HID1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 GRIK2 Arina Puzriakova reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 EMC10 Arina Puzriakova commented on gene: EMC10: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 DTYMK Arina Puzriakova reviewed gene: DTYMK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 DROSHA Arina Puzriakova reviewed gene: DROSHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 DHDDS Arina Puzriakova commented on gene: DHDDS: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 DEAF1 Arina Puzriakova commented on gene: DEAF1
Early onset or syndromic epilepsy v3.29 CLCN3 Arina Puzriakova edited their review of gene: CLCN3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 CHD5 Arina Puzriakova reviewed gene: CHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 CELF2 Arina Puzriakova edited their review of gene: CELF2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 CACNA1I Arina Puzriakova reviewed gene: CACNA1I: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 ARFGEF1 Arina Puzriakova reviewed gene: ARFGEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 ARF1 Arina Puzriakova commented on gene: ARF1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 AP1G1 Arina Puzriakova edited their review of gene: AP1G1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 ACOX1 Arina Puzriakova commented on gene: ACOX1
Early onset or syndromic epilepsy v3.29 MED12 Arina Puzriakova commented on gene: MED12
Early onset or syndromic epilepsy v3.29 FAR1 Arina Puzriakova commented on gene: FAR1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 CERS1 Arina Puzriakova reviewed gene: CERS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 TIAM1 Arina Puzriakova reviewed gene: TIAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 TAF8 Arina Puzriakova edited their review of gene: TAF8: Added comment: 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.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 SNIP1 Arina Puzriakova reviewed gene: SNIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 SLC38A3 Arina Puzriakova reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 OGDHL Arina Puzriakova edited their review of gene: OGDHL: Added comment: 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.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 NSRP1 Arina Puzriakova edited their review of gene: NSRP1: Added comment: 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.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 GLRA2 Arina Puzriakova reviewed gene: GLRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 FBXO28 Arina Puzriakova reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 FASTKD2 Arina Puzriakova commented on gene: FASTKD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.29 CUL3 Arina Puzriakova edited their review of gene: CUL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 CLPB Arina Puzriakova edited their review of gene: CLPB: Added comment: The rating of this gene has been updated to Green and the mode of inheritance updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v3.29 CHKA Arina Puzriakova reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 CACNA1A Arina Puzriakova commented on gene: CACNA1A
Early onset or syndromic epilepsy v3.29 ATP6V0A1 Arina Puzriakova reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.29 ASH1L Arina Puzriakova reviewed gene: ASH1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v3.28 YIPF5 Arina Puzriakova Source Expert Review Green was added to YIPF5.
Source NHS GMS was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 WNK3 Arina Puzriakova Source Expert Review Green was added to WNK3.
Source NHS GMS was added to WNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 TNPO2 Arina Puzriakova Source Expert Review Green was added to TNPO2.
Source NHS GMS was added to TNPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 TMEM222 Arina Puzriakova Source Expert Review Green was added to TMEM222.
Source NHS GMS was added to TMEM222.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 TIAM1 Arina Puzriakova Source Expert Review Green was added to TIAM1.
Source NHS GMS was added to TIAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 TAF8 Arina Puzriakova Source Expert Review Green was added to TAF8.
Source NHS GMS was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 SPTBN1 Arina Puzriakova Source Expert Review Green was added to SPTBN1.
Source NHS GMS was added to SPTBN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 SPATA5L1 Arina Puzriakova Source Expert Review Green was added to SPATA5L1.
Source NHS GMS was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 SNIP1 Arina Puzriakova Source Expert Review Green was added to SNIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 SLC38A3 Arina Puzriakova Source Expert Review Green was added to SLC38A3.
Source NHS GMS was added to SLC38A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 SCAMP5 Arina Puzriakova Source Expert Review Green was added to SCAMP5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 SATB1 Arina Puzriakova Source Expert Review Green was added to SATB1.
Source NHS GMS was added to SATB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 PRPF8 Arina Puzriakova Source Expert Review Green was added to PRPF8.
Source NHS GMS was added to PRPF8.
Mode of inheritance for gene PRPF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 PMPCB Arina Puzriakova Source Expert Review Green was added to PMPCB.
Source NHS GMS was added to PMPCB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 PIDD1 Arina Puzriakova Source Expert Review Green was added to PIDD1.
Source NHS GMS was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 PGM2L1 Arina Puzriakova Source Expert Review Green was added to PGM2L1.
Source NHS GMS was added to PGM2L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 PCDHGC4 Arina Puzriakova Source Expert Review Green was added to PCDHGC4.
Source NHS GMS was added to PCDHGC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 OGDHL Arina Puzriakova Source Expert Review Green was added to OGDHL.
Source NHS GMS was added to OGDHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 NSRP1 Arina Puzriakova Source Expert Review Green was added to NSRP1.
Source NHS GMS was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 NEUROD2 Arina Puzriakova Source Expert Review Green was added to NEUROD2.
Source NHS GMS was added to NEUROD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 NAPB Arina Puzriakova Source Expert Review Green was added to NAPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 MINPP1 Arina Puzriakova Source Expert Review Green was added to MINPP1.
Source NHS GMS was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 MED27 Arina Puzriakova Source Expert Review Green was added to MED27.
Source NHS GMS was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 KCNH1 Arina Puzriakova Source Expert Review Green was added to KCNH1.
Source NHS GMS was added to KCNH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 KCND2 Arina Puzriakova Source Expert Review Green was added to KCND2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 KCNC2 Arina Puzriakova Source Expert Review Green was added to KCNC2.
Source NHS GMS was added to KCNC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 HID1 Arina Puzriakova Source Expert Review Green was added to HID1.
Source NHS GMS was added to HID1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 GRIK2 Arina Puzriakova Source Expert Review Green was added to GRIK2.
Source NHS GMS was added to GRIK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 GLRA2 Arina Puzriakova Source Expert Review Green was added to GLRA2.
Source NHS GMS was added to GLRA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 FBXO28 Arina Puzriakova Source Expert Review Green was added to FBXO28.
Source NHS GMS was added to FBXO28.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 FASTKD2 Arina Puzriakova Source Expert Review Green was added to FASTKD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 FAR1 Arina Puzriakova Mode of inheritance for gene FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v3.28 EMC10 Arina Puzriakova Source Expert Review Green was added to EMC10.
Source NHS GMS was added to EMC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 DTYMK Arina Puzriakova Source Expert Review Green was added to DTYMK.
Source NHS GMS was added to DTYMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 DROSHA Arina Puzriakova Source Expert Review Green was added to DROSHA.
Source NHS GMS was added to DROSHA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 DHDDS Arina Puzriakova Mode of inheritance for gene DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v3.28 DEAF1 Arina Puzriakova Mode of inheritance for gene DEAF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v3.28 CUL3 Arina Puzriakova Source Expert Review Green was added to CUL3.
Source NHS GMS was added to CUL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CLPB Arina Puzriakova Source Expert Review Green was added to CLPB.
Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CLCN3 Arina Puzriakova Source Expert Review Green was added to CLCN3.
Source NHS GMS was added to CLCN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CHKA Arina Puzriakova Source Expert Review Green was added to CHKA.
Source NHS GMS was added to CHKA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CHD5 Arina Puzriakova Source Expert Review Green was added to CHD5.
Source NHS GMS was added to CHD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CERS1 Arina Puzriakova Source Expert Review Green was added to CERS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CELF2 Arina Puzriakova Source Expert Review Green was added to CELF2.
Source NHS GMS was added to CELF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CACNA1I Arina Puzriakova Source Expert Review Green was added to CACNA1I.
Source NHS GMS was added to CACNA1I.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CACNA1C Arina Puzriakova Source Expert Review Green was added to CACNA1C.
Source NHS GMS was added to CACNA1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 CACNA1A Arina Puzriakova Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v3.28 ATP6V0A1 Arina Puzriakova Source Expert Review Green was added to ATP6V0A1.
Source NHS GMS was added to ATP6V0A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 ASH1L Arina Puzriakova Source Expert Review Green was added to ASH1L.
Source NHS GMS was added to ASH1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 ARFGEF1 Arina Puzriakova Source Expert Review Green was added to ARFGEF1.
Source NHS GMS was added to ARFGEF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 ARF1 Arina Puzriakova Source Expert Review Green was added to ARF1.
Source NHS GMS was added to ARF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 AP1G1 Arina Puzriakova Source Expert Review Green was added to AP1G1.
Source NHS GMS was added to AP1G1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.28 ACOX1 Arina Puzriakova Mode of inheritance for gene ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital disorders of glycosylation v3.4 SLC37A4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SLC37A4.
Congenital disorders of glycosylation v3.4 EDEM3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: EDEM3.
Congenital disorders of glycosylation v3.4 TMEM199 Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 SLC35A2 Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 POMK Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 G6PC3 Achchuthan Shanmugasundram reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 EOGT Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 DPM2 Achchuthan Shanmugasundram reviewed gene: DPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 B4GALNT1 Achchuthan Shanmugasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 MAGT1 Achchuthan Shanmugasundram reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 GORAB Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 STT3A Achchuthan Shanmugasundram commented on gene: STT3A
Congenital disorders of glycosylation v3.4 SLC37A4 Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 EDEM3 Achchuthan Shanmugasundram reviewed gene: EDEM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.3 TMEM199 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM199.
Source NHS GMS was added to TMEM199.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 STT3A Achchuthan Shanmugasundram Source NHS GMS was added to STT3A.
Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital disorders of glycosylation v3.3 SLC37A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC37A4.
Source NHS GMS was added to SLC37A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 SLC35A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A2.
Source NHS GMS was added to SLC35A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 POMK Achchuthan Shanmugasundram Source Expert Review Green was added to POMK.
Source NHS GMS was added to POMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 PIGW Achchuthan Shanmugasundram Source Expert Review Green was added to PIGW.
Source NHS GMS was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 MAGT1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAGT1.
Source NHS GMS was added to MAGT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 GORAB Achchuthan Shanmugasundram Source Expert Review Green was added to GORAB.
Source NHS GMS was added to GORAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 G6PC3 Achchuthan Shanmugasundram Source Expert Review Green was added to G6PC3.
Source NHS GMS was added to G6PC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 EOGT Achchuthan Shanmugasundram Source Expert Review Green was added to EOGT.
Source NHS GMS was added to EOGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 EDEM3 Achchuthan Shanmugasundram Source Expert Review Green was added to EDEM3.
Source NHS GMS was added to EDEM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 DPM2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPM2.
Source NHS GMS was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 B4GALNT1 Achchuthan Shanmugasundram Source Expert Review Green was added to B4GALNT1.
Source NHS GMS was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare anaemia v2.3 LARS2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LARS2.
Rare anaemia v2.3 KLF1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: KLF1.
Rare anaemia v2.3 HEATR3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: HEATR3.
Tag Q3_22_MOI was removed from gene: HEATR3.
Rare anaemia v2.3 ABCB7 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: ABCB7.
Rare anaemia v2.3 RPS27 Achchuthan Shanmugasundram reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v2.3 RPL27 Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v2.3 LARS2 Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v2.3 KLF1 Achchuthan Shanmugasundram commented on gene: KLF1
Rare anaemia v2.3 HEATR3 Achchuthan Shanmugasundram reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v2.3 ABCB7 Achchuthan Shanmugasundram commented on gene: ABCB7
Rare anaemia v2.2 LARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare anaemia v2.2 KLF1 Achchuthan Shanmugasundram Mode of inheritance for gene KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare anaemia v2.2 HEATR3 Achchuthan Shanmugasundram Source Expert Review Green was added to HEATR3.
Source NHS GMS was added to HEATR3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare anaemia v2.2 ABCB7 Achchuthan Shanmugasundram Mode of inheritance for gene ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Iron metabolism disorders - NOT common HFE mutations v1.38 FTL Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: FTL.
Iron metabolism disorders - NOT common HFE mutations v1.38 FTL Achchuthan Shanmugasundram commented on gene: FTL
Iron metabolism disorders - NOT common HFE mutations v1.37 FTL Achchuthan Shanmugasundram Mode of inheritance for gene FTL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited predisposition to acute myeloid leukaemia (AML) v2.3 MBD4 Achchuthan Shanmugasundram changed review comment from: 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.; to: 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.

Notes from GMS reviewers:
MBD4 is associated with a rare cancer predisposition syndrome with high penetrance for AML. Loss of function of the gene results in defective base excision repair and a mutator phenotype. It is appropriate to include this gene in the panel. Agree with the evidence cited, would seek consensus approval with CGG. As the reports for variants in this gene are limited, it may be prundent to restrict analysis to clearly LOF truncating variants in the first instance. Reagents would require redesign for this gene to be included.
Inherited predisposition to acute myeloid leukaemia (AML) v2.3 MBD4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: MBD4.
Tag Q3_22_NHS_review was removed from gene: MBD4.
Tag Q3_22_expert_review was removed from gene: MBD4.
Inherited predisposition to acute myeloid leukaemia (AML) v2.3 MBD4 Achchuthan Shanmugasundram reviewed gene: MBD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v2.2 MBD4 Achchuthan Shanmugasundram Source Expert Review Green was added to MBD4.
Source NHS GMS was added to MBD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary Erythrocytosis v1.46 PIEZO1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

GMS reviewers note that it is a very polymorphic gene that will impose a substantial analysis burden. Publication identifies 4 "possibly" causative mutations and stresses the importance of electrophysiological assessment of variants, which is not always easy to arrange.
Hereditary Erythrocytosis v1.46 PIEZO1 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: PIEZO1.
Hereditary Erythrocytosis v1.46 SLC30A10 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: SLC30A10.
Hereditary Erythrocytosis v1.46 BPGM Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: BPGM.
Tag Q4_21_MOI was removed from gene: BPGM.
Tag Q4_21_rating was removed from gene: BPGM.
Hereditary Erythrocytosis v1.46 PIEZO1 Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary Erythrocytosis v1.46 SLC30A10 Achchuthan Shanmugasundram reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary Erythrocytosis v1.46 BPGM Achchuthan Shanmugasundram reviewed gene: BPGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary Erythrocytosis v1.45 SLC30A10 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC30A10.
Source NHS GMS was added to SLC30A10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary Erythrocytosis v1.45 BPGM Achchuthan Shanmugasundram Source Expert Review Green was added to BPGM.
Source NHS GMS was added to BPGM.
Mode of inheritance for gene BPGM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v2.3 GP1BB Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. GMS reviewers also note that mutations are associated with only platelet features not multi-lineage cytopenias.
Cytopenia - NOT Fanconi anaemia v2.3 GP1BB Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: GP1BB.
Cytopenia - NOT Fanconi anaemia v2.3 RPA1 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: RPA1.
Cytopenia - NOT Fanconi anaemia v2.3 MPL Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. GMS reviewers also note that the monoallelic variants that were previously reported for this gene were associated with thrombocythaemia and not with thrombocytopenia.
Cytopenia - NOT Fanconi anaemia v2.3 MPL Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: MPL.
Tag Q2_22_expert_review was removed from gene: MPL.
Cytopenia - NOT Fanconi anaemia v2.3 KLF1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: KLF1.
Cytopenia - NOT Fanconi anaemia v2.3 CLPB Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: CLPB.
Cytopenia - NOT Fanconi anaemia v2.3 RPL27 Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v2.3 GP1BB Achchuthan Shanmugasundram reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v2.3 RPA1 Achchuthan Shanmugasundram reviewed gene: RPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v2.3 MPL Achchuthan Shanmugasundram commented on gene: MPL
Cytopenia - NOT Fanconi anaemia v2.3 KLF1 Achchuthan Shanmugasundram commented on gene: KLF1
Cytopenia - NOT Fanconi anaemia v2.3 CLPB Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v2.2 RPA1 Achchuthan Shanmugasundram Source Expert Review Green was added to RPA1.
Source NHS GMS was added to RPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v2.2 MPL Achchuthan Shanmugasundram Mode of inheritance for gene MPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v2.2 KLF1 Achchuthan Shanmugasundram Mode of inheritance for gene KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v2.2 CLPB Achchuthan Shanmugasundram Source Expert Review Green was added to CLPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fanconi anaemia or Bloom syndrome v1.18 RAD51 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: RAD51.
Fanconi anaemia or Bloom syndrome v1.18 RAD51 Achchuthan Shanmugasundram reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fanconi anaemia or Bloom syndrome v1.17 RAD51 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51.
Source NHS GMS was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v2.3 F7 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.

Note from GMS reviewers: As with most genes encoding coagulation factors, both monoallelic and biallelic F7 variants can be clinically significant.
Bleeding and platelet disorders v2.3 F12 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green, and the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green, and the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.

GMS reviewers note that defects in F12 are associated with prolonged APTT; therefore, this should remain a green gene in the R90 panel. It should be left on the panel as may explain prolonged aPTT if not bleeding, so potentially still useful in the diagnostic pathway. As with most genes encoding coagulation factors, both monoallelic and biallelic F7 variants can be clinically significant.
Bleeding and platelet disorders v2.3 ACTB Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'. In addition, GMS reviewers note that there is no compelling evidence to associate with R90-syndromic gene.
Bleeding and platelet disorders v2.3 F7 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: F7.
Bleeding and platelet disorders v2.3 F12 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: F12.
Tag Q2_22_MOI was removed from gene: F12.
Tag Q2_22_phenotype was removed from gene: F12.
Tag Q2_22_expert_review was removed from gene: F12.
Bleeding and platelet disorders v2.3 ACTB Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: ACTB.
Bleeding and platelet disorders v2.3 COL3A1 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Bleeding and platelet disorders v2.3 F7 Achchuthan Shanmugasundram commented on gene: F7
Bleeding and platelet disorders v2.3 F12 Achchuthan Shanmugasundram reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v2.3 ACTB Achchuthan Shanmugasundram commented on gene: ACTB
Bleeding and platelet disorders v2.3 COL3A1 Achchuthan Shanmugasundram commented on gene: COL3A1
Bleeding and platelet disorders v2.2 COL3A1 Achchuthan Shanmugasundram Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome v0.217 Achchuthan Shanmugasundram Panel status changed from internal to public
Paediatric pseudo-obstruction syndrome v0.216 ZEB2 Achchuthan Shanmugasundram commented on gene: ZEB2: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TYMP Achchuthan Shanmugasundram commented on gene: TYMP: 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.
Paediatric pseudo-obstruction syndrome v0.216 TWNK Achchuthan Shanmugasundram commented on gene: TWNK: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TTC7A Achchuthan Shanmugasundram commented on gene: TTC7A: 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.
Paediatric pseudo-obstruction syndrome v0.216 TPM3 Achchuthan Shanmugasundram commented on gene: TPM3: The rating of this gene has been updated to Red and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 TK2 Achchuthan Shanmugasundram commented on gene: TK2: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SURF1 Achchuthan Shanmugasundram commented on gene: SURF1: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SUCLG1 Achchuthan Shanmugasundram commented on gene: SUCLG1: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SUCLA2 Achchuthan Shanmugasundram commented on gene: SUCLA2: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SOX10 Achchuthan Shanmugasundram commented on gene: SOX10: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SGO1 Achchuthan Shanmugasundram commented on gene: SGO1: 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.
Paediatric pseudo-obstruction syndrome v0.216 SEMA3F Achchuthan Shanmugasundram commented on gene: SEMA3F: The rating of this gene has been updated to Red and the mode of inheritance set to 'Unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SDHA Achchuthan Shanmugasundram commented on gene: SDHA: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 SCN10A Achchuthan Shanmugasundram commented on gene: SCN10A: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 RRM2B Achchuthan Shanmugasundram commented on gene: RRM2B: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 RET Achchuthan Shanmugasundram commented on gene: RET: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 RAD21 Achchuthan Shanmugasundram commented on gene: RAD21: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PROKR2 Achchuthan Shanmugasundram commented on gene: PROKR2: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PROKR1 Achchuthan Shanmugasundram commented on gene: PROKR1: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 PROK1 Achchuthan Shanmugasundram commented on gene: PROK1: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 POLG Achchuthan Shanmugasundram commented on gene: POLG: 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.
Paediatric pseudo-obstruction syndrome v0.216 PHOX2B Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 PDCL3 Achchuthan Shanmugasundram commented on gene: PDCL3: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 NRTN Achchuthan Shanmugasundram commented on gene: NRTN: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 NKX2-1 Achchuthan Shanmugasundram commented on gene: NKX2-1: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 NDUFS1 Achchuthan Shanmugasundram commented on gene: NDUFS1: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MYLK Achchuthan Shanmugasundram commented on gene: MYLK: 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.
Paediatric pseudo-obstruction syndrome v0.216 MYL9 Achchuthan Shanmugasundram commented on gene: MYL9: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MYH11 Achchuthan Shanmugasundram commented on gene: MYH11: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 MPV17 Achchuthan Shanmugasundram commented on gene: MPV17: 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.
Paediatric pseudo-obstruction syndrome v0.216 LMOD1 Achchuthan Shanmugasundram commented on gene: LMOD1: 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.
Paediatric pseudo-obstruction syndrome v0.216 LIG3 Achchuthan Shanmugasundram commented on gene: LIG3: 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.
Paediatric pseudo-obstruction syndrome v0.216 L1CAM Achchuthan Shanmugasundram commented on gene: L1CAM: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 KIF26A Achchuthan Shanmugasundram commented on gene: KIF26A: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1: The rating of this gene has been updated to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 GDNF Achchuthan Shanmugasundram commented on gene: GDNF: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 FOCAD Achchuthan Shanmugasundram commented on gene: FOCAD: The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 FLNA Achchuthan Shanmugasundram commented on gene: FLNA: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 ERBB3 Achchuthan Shanmugasundram commented on gene: ERBB3: 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.
Paediatric pseudo-obstruction syndrome v0.216 ERBB2 Achchuthan Shanmugasundram commented on gene: ERBB2: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Paediatric pseudo-obstruction syndrome v0.216 EDNRB Achchuthan Shanmugasundram reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 EDN3 Achchuthan Shanmugasundram reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 ECE1 Achchuthan Shanmugasundram reviewed gene: ECE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DLX2 Achchuthan Shanmugasundram reviewed gene: DLX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DLX1 Achchuthan Shanmugasundram reviewed gene: DLX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DGUOK Achchuthan Shanmugasundram reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 DDX3X Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 COX15 Achchuthan Shanmugasundram reviewed gene: COX15: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 COX10 Achchuthan Shanmugasundram reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 CHRNE Achchuthan Shanmugasundram reviewed gene: CHRNE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 C17orf107 Achchuthan Shanmugasundram reviewed gene: C17orf107: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 BCS1L Achchuthan Shanmugasundram reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 BCR Achchuthan Shanmugasundram reviewed gene: BCR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 ACTG2 Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric pseudo-obstruction syndrome v0.216 ACTA2 Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v2.3 AGR2 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: AGR2.
Intestinal failure or congenital diarrhoea v2.3 AGR2 Achchuthan Shanmugasundram reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v2.2 AGR2 Achchuthan Shanmugasundram Source Expert Review Green was added to AGR2.
Source NHS GMS was added to AGR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly v3.4 CNOT1 Sarah Leigh Tag watchlist was removed from gene: CNOT1.
Tag Q3_22_rating was removed from gene: CNOT1.
Tag Q3_22_expert_review was removed from gene: CNOT1.
Holoprosencephaly v3.4 CNOT1 Eleanor Williams edited their review of gene: CNOT1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Holoprosencephaly v3.3 CNOT1 Sarah Leigh Source Expert Review Green was added to CNOT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v3.5 AP1S2 Sarah Leigh Tag Q4_21_MOI was removed from gene: AP1S2.
Hydrocephalus v3.5 AP1S2 Eleanor Williams commented on gene: AP1S2: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Hydrocephalus v3.4 AP1S2 Eleanor Williams commented on gene: AP1S2: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Hydrocephalus v3.3 AP1S2 Eleanor Williams commented on gene: AP1S2
Hydrocephalus v3.2 AP1S2 Sarah Leigh Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypogonadotropic hypogonadism (GMS) v2.5 TCF12 Catherine Snow Tag Q2_21_rating was removed from gene: TCF12.
Hypogonadotropic hypogonadism (GMS) v2.5 SPRY4 Catherine Snow Tag Q3_22_rating was removed from gene: SPRY4.
Tag Q3_22_expert_review was removed from gene: SPRY4.
Hypogonadotropic hypogonadism (GMS) v2.5 IL17RD Catherine Snow Tag Q2_21_expert_review was removed from gene: IL17RD.
Tag Q2_21_MOI was removed from gene: IL17RD.
Hypogonadotropic hypogonadism (GMS) v2.5 IL17RD Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains XX. The additional comments from GLH's is "Possiblity of digenic/oligogenic inheritance."; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The additional comments from GLH's is "Possiblity of digenic/oligogenic inheritance."
Hypogonadotropic hypogonadism (GMS) v2.5 FGF17 Catherine Snow Tag Q3_22_rating was removed from gene: FGF17.
Tag Q3_22_expert_review was removed from gene: FGF17.
Hypogonadotropic hypogonadism (GMS) v2.5 DUSP6 Catherine Snow Tag Q3_22_rating was removed from gene: DUSP6.
Tag Q3_22_expert_review was removed from gene: DUSP6.
Hypogonadotropic hypogonadism (GMS) v2.5 CPE Catherine Snow Tag Q3_21_rating was removed from gene: CPE.
Hypogonadotropic hypogonadism (GMS) v2.5 SOX10 Catherine Snow Tag Q2_21_rating was removed from gene: SOX10.
Hypogonadotropic hypogonadism (GMS) v2.5 SEMA3F Catherine Snow Tag Q3_22_rating was removed from gene: SEMA3F.
Hypogonadotropic hypogonadism (GMS) v2.5 PLXNA3 Catherine Snow Tag Q3_22_rating was removed from gene: PLXNA3.
Hypogonadotropic hypogonadism (GMS) v2.5 LEPR Catherine Snow Tag Q2_21_rating was removed from gene: LEPR.
Hypogonadotropic hypogonadism (GMS) v2.5 LEP Catherine Snow Tag Q2_21_rating was removed from gene: LEP.
Hypogonadotropic hypogonadism (GMS) v2.5 KLB Catherine Snow Tag Q2_21_rating was removed from gene: KLB.
Hypogonadotropic hypogonadism (GMS) v2.5 GNRH1 Catherine Snow Tag Q2_21_rating was removed from gene: GNRH1.
Hypogonadotropic hypogonadism (GMS) v2.5 TCF12 Catherine Snow commented on gene: TCF12
Hypogonadotropic hypogonadism (GMS) v2.5 SPRY4 Catherine Snow commented on gene: SPRY4
Hypogonadotropic hypogonadism (GMS) v2.5 IL17RD Catherine Snow commented on gene: IL17RD
Hypogonadotropic hypogonadism (GMS) v2.5 FGF17 Catherine Snow commented on gene: FGF17
Hypogonadotropic hypogonadism (GMS) v2.5 DUSP6 Catherine Snow commented on gene: DUSP6
Hypogonadotropic hypogonadism (GMS) v2.5 CPE Catherine Snow commented on gene: CPE
Hypogonadotropic hypogonadism (GMS) v2.5 SOX10 Catherine Snow commented on gene: SOX10
Hypogonadotropic hypogonadism (GMS) v2.5 SEMA3F Catherine Snow commented on gene: SEMA3F
Hypogonadotropic hypogonadism (GMS) v2.5 PLXNA3 Catherine Snow commented on gene: PLXNA3
Hypogonadotropic hypogonadism (GMS) v2.5 LEPR Catherine Snow commented on gene: LEPR
Hypogonadotropic hypogonadism (GMS) v2.5 LEP Catherine Snow commented on gene: LEP
Hypogonadotropic hypogonadism (GMS) v2.5 KLB Catherine Snow commented on gene: KLB
Hypogonadotropic hypogonadism (GMS) v2.5 GNRH1 Catherine Snow commented on gene: GNRH1
Hypogonadotropic hypogonadism (GMS) v2.4 SOX10 Catherine Snow Source Expert Review Green was added to SOX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v2.4 SEMA3F Catherine Snow Source Expert Review Green was added to SEMA3F.
Source NHS GMS was added to SEMA3F.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v2.4 PLXNA3 Catherine Snow Source Expert Review Green was added to PLXNA3.
Source NHS GMS was added to PLXNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v2.4 LEPR Catherine Snow Source Expert Review Green was added to LEPR.
Source NHS GMS was added to LEPR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v2.4 LEP Catherine Snow Source Expert Review Green was added to LEP.
Source NHS GMS was added to LEP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v2.4 KLB Catherine Snow Source Expert Review Green was added to KLB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v2.4 GNRH1 Catherine Snow Source Expert Review Green was added to GNRH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v3.3 FBN1 Catherine Snow Tag Q2_21_rating was removed from gene: FBN1.
Severe insulin resistance and lipodystrophy syndromes v3.3 KCNJ6 Catherine Snow Tag Q2_21_rating was removed from gene: KCNJ6.
Severe insulin resistance and lipodystrophy syndromes v3.3 OTULIN Catherine Snow Tag Q2_21_rating was removed from gene: OTULIN.
Severe insulin resistance and lipodystrophy syndromes v3.3 OTULIN Catherine Snow commented on gene: OTULIN
Severe insulin resistance and lipodystrophy syndromes v3.3 KCNJ6 Catherine Snow commented on gene: KCNJ6
Severe insulin resistance and lipodystrophy syndromes v3.3 FBN1 Catherine Snow commented on gene: FBN1
Severe insulin resistance and lipodystrophy syndromes v3.2 OTULIN Catherine Snow Source Expert Review Green was added to OTULIN.
Source NHS GMS was added to OTULIN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v3.2 KCNJ6 Catherine Snow Source Expert Review Green was added to KCNJ6.
Source NHS GMS was added to KCNJ6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v3.2 FBN1 Catherine Snow Source Expert Review Green was added to FBN1.
Source NHS GMS was added to FBN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.3 FGFR2 Arina Puzriakova Tag Q2_21_expert_review was removed from gene: FGFR2.
Pituitary hormone deficiency v2.106 RNPC3 Catherine Snow Tag Q3_22_rating was removed from gene: RNPC3.
Tag Q3_22_NHS_review was removed from gene: RNPC3.
Pituitary hormone deficiency v2.106 ROBO1 Catherine Snow Tag Q3_22_rating was removed from gene: ROBO1.
Tag Q3_22_MOI was removed from gene: ROBO1.
Tag Q3_22_NHS_review was removed from gene: ROBO1.
Pituitary hormone deficiency v2.106 TBC1D32 Catherine Snow Tag Q3_22_NHS_review was removed from gene: TBC1D32.
Pituitary hormone deficiency v2.106 TBC1D32 Catherine Snow Tag Q3_22_rating was removed from gene: TBC1D32.
Pituitary hormone deficiency v2.106 TCF7L1 Catherine Snow Tag Q3_22_rating was removed from gene: TCF7L1.
Tag Q3_22_NHS_review was removed from gene: TCF7L1.
Differences in sex development v3.3 HHAT Arina Puzriakova Tag Q4_21_rating was removed from gene: HHAT.
Differences in sex development v3.3 NR3C1 Arina Puzriakova Tag Q2_21_rating was removed from gene: NR3C1.
Pituitary hormone deficiency v2.106 TGIF1 Catherine Snow Tag Q3_22_rating was removed from gene: TGIF1.
Tag Q3_22_NHS_review was removed from gene: TGIF1.
Differences in sex development v3.3 NR2F2 Arina Puzriakova Tag Q2_21_rating was removed from gene: NR2F2.
Differences in sex development v3.3 MYRF Arina Puzriakova Tag Q2_21_rating was removed from gene: MYRF.
Pituitary hormone deficiency v2.106 TGIF1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence, sugget amber rating pending further evidence."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence, sugget amber rating pending further evidence."
Differences in sex development v3.3 HOXA13 Arina Puzriakova Tag Q2_21_rating was removed from gene: HOXA13.
Differences in sex development v3.3 GATA4 Arina Puzriakova Tag Q2_21_rating was removed from gene: GATA4.
Pituitary hormone deficiency v2.106 TCF7L1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence, sugget amber rating pending further evidence."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence, suggest amber rating pending further evidence."
Differences in sex development v3.3 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
Differences in sex development v3.3 CTU2 Arina Puzriakova Tag Q2_21_rating was removed from gene: CTU2.
Differences in sex development v3.3 NR3C1 Arina Puzriakova Source Expert Review Green was added to NR3C1.
Source NHS GMS was added to NR3C1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.3 NR2F2 Arina Puzriakova Source Expert Review Green was added to NR2F2.
Source NHS GMS was added to NR2F2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.3 MYRF Arina Puzriakova Source Expert Review Green was added to MYRF.
Source NHS GMS was added to MYRF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.3 HOXA13 Arina Puzriakova Source Expert Review Green was added to HOXA13.
Source NHS GMS was added to HOXA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.3 GATA4 Arina Puzriakova Source Expert Review Green was added to GATA4.
Source NHS GMS was added to GATA4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.3 CYP11A1 Arina Puzriakova Source NHS GMS was added to CYP11A1.
Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences in sex development v3.3 CTU2 Arina Puzriakova Source Expert Review Green was added to CTU2.
Source NHS GMS was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.2 HHAT Arina Puzriakova commented on gene: HHAT
Differences in sex development v3.2 NR3C1 Arina Puzriakova reviewed gene: NR3C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v3.2 NR2F2 Arina Puzriakova reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v3.2 MYRF Arina Puzriakova reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v3.2 HOXA13 Arina Puzriakova reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v3.2 GATA4 Arina Puzriakova reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v3.2 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Differences in sex development v3.2 CTU2 Arina Puzriakova reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v2.106 ROBO1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Not associated with phenotye in OMIM. Phenotypic heterogeneity associated with this gene (HGMD). Liu & Chen 2020: Mother and son with PSIS, Brauner et al 2020 (PNID:33270637), also reported cases from Bashamboo et al 2017 (PMID:28402530): 4 cases (one case also had variants in NBAS and KIAA0556). Suggest amber rating pending further information."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Not associated with phenotye in OMIM. Phenotypic heterogeneity associated with this gene (HGMD). Liu & Chen 2020: Mother and son with PSIS, Brauner et al 2020 (PNID:33270637), also reported cases from Bashamboo et al 2017 (PMID:28402530): 4 cases (one case also had variants in NBAS and KIAA0556). Suggest amber rating pending further information."
Neonatal diabetes v3.3 KCNJ11 Arina Puzriakova Tag Q1_22_MOI was removed from gene: KCNJ11.
Neonatal diabetes v3.3 ZNF808 Arina Puzriakova Tag Q3_22_rating was removed from gene: ZNF808.
Tag Q3_22_NHS_review was removed from gene: ZNF808.
Neonatal diabetes v3.3 EIF2B1 Arina Puzriakova Tag Q3_22_rating was removed from gene: EIF2B1.
Tag Q3_22_NHS_review was removed from gene: EIF2B1.
Neonatal diabetes v3.3 ONECUT1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: ONECUT1.
Neonatal diabetes v3.3 CNOT1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: CNOT1.
Neonatal diabetes v3.3 ONECUT1 Arina Puzriakova commented on gene: ONECUT1
Neonatal diabetes v3.3 CNOT1 Arina Puzriakova commented on gene: CNOT1
Neonatal diabetes v3.3 KCNJ11 Arina Puzriakova commented on gene: KCNJ11
Neonatal diabetes v3.3 ZNF808 Arina Puzriakova reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v3.3 EIF2B1 Arina Puzriakova reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow Tag Q3_22_rating was removed from gene: MAGEL2.
Tag Q3_22_MOI was removed from gene: MAGEL2.
Tag Q3_22_NHS_review was removed from gene: MAGEL2.
Neonatal diabetes v3.2 ZNF808 Arina Puzriakova Source Expert Review Green was added to ZNF808.
Source NHS GMS was added to ZNF808.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neonatal diabetes v3.2 KCNJ11 Arina Puzriakova Mode of inheritance for gene KCNJ11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neonatal diabetes v3.2 EIF2B1 Arina Puzriakova Source Expert Review Green was added to EIF2B1.
Source NHS GMS was added to EIF2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow Tag Q3_22_rating was removed from gene: PCSK1.
Tag Q3_22_NHS_review was removed from gene: PCSK1.
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Usually manifests at birth with muscular hypotonia in all patients and distal joint contractures in a majority of affected individuals, therefore likely that these patients will be tested using alternative panel(s). Further clinical input needed to determine if this panel would be used for these patients."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Usually manifests at birth with muscular hypotonia in all patients and distal joint contractures in a majority of affected individuals, therefore likely that these patients will be tested using alternative panel(s). Further clinical input needed to determine if this panel would be used for these patients."
Pituitary hormone deficiency v2.106 IGSF1 Catherine Snow Tag Q3_22_MOI was removed from gene: IGSF1.
Tag Q3_22_NHS_review was removed from gene: IGSF1.
Pituitary hormone deficiency v2.106 HID1 Catherine Snow Tag Q3_21_rating was removed from gene: HID1.
Congenital hyperinsulinism v2.32 NSD1 Arina Puzriakova Tag Q4_21_rating was removed from gene: NSD1.
Tag Q3_22_NHS_review was removed from gene: NSD1.
Congenital hyperinsulinism v2.32 MAGEL2 Arina Puzriakova Tag Q3_22_rating was removed from gene: MAGEL2.
Tag Q3_22_MOI was removed from gene: MAGEL2.
Tag Q3_22_NHS_review was removed from gene: MAGEL2.
Congenital hyperinsulinism v2.32 HK1 Arina Puzriakova Tag Q3_22_rating was removed from gene: HK1.
Tag Q3_22_MOI was removed from gene: HK1.
Tag Q3_22_NHS_review was removed from gene: HK1.
Congenital hyperinsulinism v2.32 CACNA1D Arina Puzriakova Tag Q3_22_rating was removed from gene: CACNA1D.
Tag Q3_22_NHS_review was removed from gene: CACNA1D.
Congenital hyperinsulinism v2.32 CACNA1C Arina Puzriakova Tag Q3_22_rating was removed from gene: CACNA1C.
Tag Q3_22_MOI was removed from gene: CACNA1C.
Tag Q3_22_NHS_review was removed from gene: CACNA1C.
Congenital hyperinsulinism v2.32 GPC3 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: GPC3.
Pituitary hormone deficiency v2.106 GHR Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsGREEN.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains GREEN
Congenital hyperinsulinism v2.32 AKT2 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: AKT2.
Congenital hyperinsulinism v2.32 GPC3 Arina Puzriakova commented on gene: GPC3
Congenital hyperinsulinism v2.32 AKT2 Arina Puzriakova commented on gene: AKT2
Congenital hyperinsulinism v2.32 NSD1 Arina Puzriakova reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 MAGEL2 Arina Puzriakova reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 HK1 Arina Puzriakova reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 CACNA1D Arina Puzriakova reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 CACNA1C Arina Puzriakova reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.31 NSD1 Arina Puzriakova Source Expert Review Green was added to NSD1.
Source NHS GMS was added to NSD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 MAGEL2 Arina Puzriakova Source Expert Review Green was added to MAGEL2.
Source NHS GMS was added to MAGEL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 HK1 Arina Puzriakova Source Expert Review Green was added to HK1.
Source NHS GMS was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 CACNA1D Arina Puzriakova Source Expert Review Green was added to CACNA1D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 CACNA1C Arina Puzriakova Source Expert Review Green was added to CACNA1C.
Source NHS GMS was added to CACNA1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital adrenal hypoplasia v3.2 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
Congenital adrenal hypoplasia v3.2 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 RNF113A Arina Puzriakova Tag Q3_21_rating was removed from gene: RNF113A.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 GTF2E2 Arina Puzriakova Tag Q3_21_rating was removed from gene: GTF2E2.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 CARS Arina Puzriakova Tag Q4_21_rating was removed from gene: CARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 CARS Arina Puzriakova edited their review of gene: CARS: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 TARS Arina Puzriakova edited their review of gene: TARS: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 MARS Arina Puzriakova edited their review of gene: MARS: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; Changed rating: RED
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 AARS Arina Puzriakova edited their review of gene: AARS: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 RNF113A Arina Puzriakova edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 GTF2E2 Arina Puzriakova edited their review of gene: GTF2E2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 TARS Arina Puzriakova Source NHS GMS was added to TARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 RNF113A Arina Puzriakova Source Expert Review Green was added to RNF113A.
Source NHS GMS was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 MARS Arina Puzriakova Source Expert Review Red was added to MARS.
Source NHS GMS was added to MARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 GTF2E2 Arina Puzriakova Source Expert Review Green was added to GTF2E2.
Source NHS GMS was added to GTF2E2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 CARS Arina Puzriakova Source Expert Review Green was added to CARS.
Source NHS GMS was added to CARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 AARS Arina Puzriakova Source NHS GMS was added to AARS.
Vascular skin disorders v1.50 F12 Arina Puzriakova Tag Q2_22_MOI was removed from gene: F12.
Tag Q2_22_expert_review was removed from gene: F12.
Vascular skin disorders v1.50 F12 Arina Puzriakova commented on gene: F12: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.
Segmental overgrowth disorders - Deep sequencing v3.2 NLRP2 Arina Puzriakova Tag Q3_22_rating was removed from gene: NLRP2.
Tag Q3_22_expert_review was removed from gene: NLRP2.
Segmental overgrowth disorders - Deep sequencing v3.2 NLRP2 Arina Puzriakova reviewed gene: NLRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained death in infancy and sudden unexplained death in childhood v3.30 Arina Puzriakova Panel status changed from public to internal
Li Fraumeni Syndrome v0.8 Sarah Leigh Panel status changed from internal to public
Panel types changed to GMS Rare Disease
Li Fraumeni Syndrome v0.7 POT1 Sarah Leigh reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Li Fraumeni Syndrome v0.6 POT1 Sarah Leigh gene: POT1 was added
gene: POT1 was added to Li Fraumeni Syndrome. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v2.3 RNU12 Arina Puzriakova Tag Q4_21_expert_review was removed from gene: RNU12.
Tag Q4_21_rating was removed from gene: RNU12.
Tag Q4_21_phenotype was removed from gene: RNU12.
Rare genetic inflammatory skin disorders v2.3 GJB4 Arina Puzriakova Tag Q2_22_MOI was removed from gene: GJB4.
Rare genetic inflammatory skin disorders v2.3 GJA1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1.
Pituitary hormone deficiency v2.106 TGIF1 Catherine Snow commented on gene: TGIF1
Pituitary hormone deficiency v2.106 TCF7L1 Catherine Snow commented on gene: TCF7L1
Pituitary hormone deficiency v2.106 TBC1D32 Catherine Snow commented on gene: TBC1D32
Pituitary hormone deficiency v2.106 ROBO1 Catherine Snow commented on gene: ROBO1
Pituitary hormone deficiency v2.106 RNPC3 Catherine Snow commented on gene: RNPC3
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow commented on gene: PCSK1
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow commented on gene: MAGEL2
Pituitary hormone deficiency v2.106 IGSF1 Catherine Snow commented on gene: IGSF1
Pituitary hormone deficiency v2.106 HID1 Catherine Snow reviewed gene: HID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v2.106 GHR Catherine Snow commented on gene: GHR
Pituitary hormone deficiency v2.106 BRAF Catherine Snow reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v2.105 TBC1D32 Catherine Snow Source Expert Review Green was added to TBC1D32.
Source NHS GMS was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.105 ROBO1 Catherine Snow Source NHS GMS was added to ROBO1.
Pituitary hormone deficiency v2.105 RNPC3 Catherine Snow Source Expert Review Green was added to RNPC3.
Source NHS GMS was added to RNPC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.105 PCSK1 Catherine Snow Source NHS GMS was added to PCSK1.
Pituitary hormone deficiency v2.105 MAGEL2 Catherine Snow Source NHS GMS was added to MAGEL2.
Pituitary hormone deficiency v2.105 IGSF1 Catherine Snow Source NHS GMS was added to IGSF1.
Mode of inheritance for gene IGSF1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.105 HID1 Catherine Snow Source Expert Review Green was added to HID1.
Source NHS GMS was added to HID1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.105 BRAF Catherine Snow Source Expert Review Green was added to BRAF.
Source NHS GMS was added to BRAF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary diffuse gastric cancer v0.7 Sarah Leigh Panel types changed to GMS Rare Disease
Rare genetic inflammatory skin disorders v2.3 RNU12 Arina Puzriakova reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v2.3 GJB4 Arina Puzriakova commented on gene: GJB4: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Rare genetic inflammatory skin disorders v2.3 GJA1 Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Rare genetic inflammatory skin disorders v2.2 RNU12 Arina Puzriakova Source Expert Review Green was added to RNU12.
Source NHS GMS was added to RNU12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v2.2 GJB4 Arina Puzriakova Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v2.2 GJA1 Arina Puzriakova Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary diffuse gastric cancer v0.6 CDH1 Sarah Leigh reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pigmentary skin disorders v2.3 KIT Arina Puzriakova Tag Q1_22_MOI was removed from gene: KIT.
Pigmentary skin disorders v2.3 GJA1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1.
Pigmentary skin disorders v2.3 KIT Arina Puzriakova commented on gene: KIT: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Pigmentary skin disorders v2.3 GJA1 Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Pigmentary skin disorders v2.2 KIT Arina Puzriakova Mode of inheritance for gene KIT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pigmentary skin disorders v2.2 GJA1 Arina Puzriakova Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar keratodermas v2.6 DSC3 Arina Puzriakova Tag Q2_22_MOI was removed from gene: DSC3.
Palmoplantar keratodermas v2.6 CDSN Arina Puzriakova Tag Q2_22_rating was removed from gene: CDSN.
Tag Q2_22_expert_review was removed from gene: CDSN.
Palmoplantar keratodermas v2.6 SPINK5 Arina Puzriakova Tag Q4_21_MOI was removed from gene: SPINK5.
Palmoplantar keratodermas v2.6 SLURP1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: SLURP1.
Palmoplantar keratodermas v2.6 DSC2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: DSC2.
Palmoplantar keratodermas v2.6 CDSN Arina Puzriakova commented on gene: CDSN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.
Palmoplantar keratodermas v2.6 SPINK5 Arina Puzriakova commented on gene: SPINK5
Palmoplantar keratodermas v2.6 SLURP1 Arina Puzriakova commented on gene: SLURP1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Palmoplantar keratodermas v2.6 DSC3 Arina Puzriakova commented on gene: DSC3
Palmoplantar keratodermas v2.6 DSC2 Arina Puzriakova commented on gene: DSC2
Palmoplantar keratodermas v2.5 SPINK5 Arina Puzriakova Mode of inheritance for gene SPINK5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v2.5 SLURP1 Arina Puzriakova Mode of inheritance for gene SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Palmoplantar keratodermas v2.5 DSC3 Arina Puzriakova Mode of inheritance for gene DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v2.5 DSC2 Arina Puzriakova Mode of inheritance for gene DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary diffuse gastric cancer v0.6 Sarah Leigh Panel status changed from internal to public
Ichthyosis and erythrokeratoderma v2.12 GTF2E2 Arina Puzriakova Tag Q3_21_rating was removed from gene: GTF2E2.
Ichthyosis and erythrokeratoderma v2.12 GJA1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1.
Ichthyosis and erythrokeratoderma v2.12 ELOVL1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ELOVL1.
Severe early-onset obesity v3.3 CPE Catherine Snow Tag Q3_21_rating was removed from gene: CPE.
Ichthyosis and erythrokeratoderma v2.12 TRPV3 Arina Puzriakova Tag Q2_21_rating was removed from gene: TRPV3.
Tag Q2_21_expert_review was removed from gene: TRPV3.
Severe early-onset obesity v3.3 PGM2L1 Catherine Snow Tag Q3_21_rating was removed from gene: PGM2L1.
Tag gene-checked was removed from gene: PGM2L1.
Severe early-onset obesity v3.3 KIDINS220 Catherine Snow Tag Q4_21_rating was removed from gene: KIDINS220.
Ichthyosis and erythrokeratoderma v2.12 TRPV3 Arina Puzriakova commented on gene: TRPV3
Ichthyosis and erythrokeratoderma v2.12 GTF2E2 Arina Puzriakova commented on gene: GTF2E2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v2.12 GJA1 Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v2.12 ELOVL1 Arina Puzriakova commented on gene: ELOVL1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Severe early-onset obesity v3.3 PGM2L1 Catherine Snow commented on gene: PGM2L1
Severe early-onset obesity v3.3 KIDINS220 Catherine Snow commented on gene: KIDINS220
Severe early-onset obesity v3.3 CPE Catherine Snow commented on gene: CPE
Ichthyosis and erythrokeratoderma v2.11 GTF2E2 Arina Puzriakova Source Expert Review Green was added to GTF2E2.
Source NHS GMS was added to GTF2E2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v2.11 GJA1 Arina Puzriakova Source NHS GMS was added to GJA1.
Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v2.11 ELOVL1 Arina Puzriakova Source Expert Review Green was added to ELOVL1.
Source NHS GMS was added to ELOVL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v3.2 PGM2L1 Catherine Snow Source Expert Review Green was added to PGM2L1.
Source NHS GMS was added to PGM2L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v3.2 KIDINS220 Catherine Snow Source Expert Review Green was added to KIDINS220.
Source NHS GMS was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v3.2 CPE Catherine Snow Source Expert Review Green was added to CPE.
Source NHS GMS was added to CPE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v1.57 SPINK5 Arina Puzriakova Tag Q3_22_rating was removed from gene: SPINK5.
Tag Q3_22_expert_review was removed from gene: SPINK5.
Hereditary isolated diabetes insipidus v0.3 AVPR2 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreen and the mode of inheritance set toX-LINKED: hemizygous mutation in males, biallelic mutations in femalesfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females, following NHS Genomic Medicine Service approval.
Epidermolysis bullosa and congenital skin fragility v1.57 SPINK5 Arina Puzriakova edited their review of gene: SPINK5: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Hereditary isolated diabetes insipidus v0.3 AVP Sarah Leigh changed review comment from: The rating of this gene has been updated toGreen and the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, following NHS Genomic Medicine Service approval.
Epidermolysis bullosa and congenital skin fragility v1.56 SPINK5 Arina Puzriakova Source NHS GMS was added to SPINK5.
Source Expert Review Red was added to SPINK5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary isolated diabetes insipidus v0.3 AQP1 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreen and the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, following NHS Genomic Medicine Service approval.
Hereditary isolated diabetes insipidus v0.3 Sarah Leigh List of related panels changed from to R440
Hereditary isolated diabetes insipidus v0.2 AVPR2 Sarah Leigh reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary isolated diabetes insipidus v0.2 AVP Sarah Leigh reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary isolated diabetes insipidus v0.2 AQP1 Sarah Leigh reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v2.5 HR Arina Puzriakova Tag Q1_22_MOI was removed from gene: HR.
Hereditary isolated diabetes insipidus v0.1 AVPR2 Sarah Leigh gene: AVPR2 was added
gene: AVPR2 was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary isolated diabetes insipidus v0.1 AVP Sarah Leigh gene: AVP was added
gene: AVP was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary isolated diabetes insipidus v0.1 AQP1 Sarah Leigh gene: AQP1 was added
gene: AQP1 was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v2.5 GRHL2 Arina Puzriakova Tag Q2_22_rating was removed from gene: GRHL2.
Tag Q2_22_expert_review was removed from gene: GRHL2.
Ectodermal dysplasia v2.5 HR Arina Puzriakova commented on gene: HR: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v2.5 GRHL2 Arina Puzriakova edited their review of gene: GRHL2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Ectodermal dysplasia v2.4 HR Arina Puzriakova Source NHS GMS was added to HR.
Mode of inheritance for gene HR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v2.4 GRHL2 Arina Puzriakova Source Expert Review Green was added to GRHL2.
Source NHS GMS was added to GRHL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v2.3 GBE1 Catherine Snow Tag Q1_22_NHS_review was removed from gene: GBE1.
Tag Q2_22_rating was removed from gene: GBE1.
Tag Q2_22_expert_review was removed from gene: GBE1.
Cutaneous photosensitivity with a likely genetic cause v2.3 GATA1 Arina Puzriakova Tag Q3_21_rating was removed from gene: GATA1.
Tag Q3_21_expert_review was removed from gene: GATA1.
Cutaneous photosensitivity with a likely genetic cause v2.3 HMBS Arina Puzriakova Tag Q3_22_rating was removed from gene: HMBS.
Tag Q3_22_expert_review was removed from gene: HMBS.
Cutaneous photosensitivity with a likely genetic cause v2.3 GATA1 Arina Puzriakova commented on gene: GATA1
Cutaneous photosensitivity with a likely genetic cause v2.3 HMBS Arina Puzriakova reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v2.2 HMBS Arina Puzriakova Source NHS GMS was added to HMBS.
Source Expert Review Amber was added to HMBS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cholestasis v2.3 GALK1 Catherine Snow Tag Q1_22_NHS_review was removed from gene: GALK1.
Tag Q2_22_rating was removed from gene: GALK1.
Tag Q2_22_expert_review was removed from gene: GALK1.
Cholestasis v2.3 CYP7A1 Catherine Snow Tag for-review was removed from gene: CYP7A1.
Tag gene-checked was removed from gene: CYP7A1.
Cholestasis v2.3 GBE1 Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.3 GALK1 Catherine Snow reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.3 CYP7A1 Catherine Snow reviewed gene: CYP7A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.2 GBE1 Catherine Snow Source NHS GMS was added to GBE1.
Source Expert Review Amber was added to GBE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cholestasis v2.2 GALK1 Catherine Snow Source Expert Review Red was added to GALK1.
Source NHS GMS was added to GALK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cholestasis v2.2 CYP7A1 Catherine Snow Source Expert Review Red was added to CYP7A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Inherited prostate cancer v0.4 Sarah Leigh List of related panels changed from to R430
Inherited prostate cancer v0.3 MSH2 Sarah Leigh reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 PALB2 Sarah Leigh reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 MSH6 Sarah Leigh reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 MLH1 Sarah Leigh reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 CHEK2 Sarah Leigh reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 BRCA2 Sarah Leigh reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 BRCA1 Sarah Leigh reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.3 ATM Sarah Leigh reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited prostate cancer v0.2 PALB2 Sarah Leigh gene: PALB2 was added
gene: PALB2 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 MSH6 Sarah Leigh gene: MSH6 was added
gene: MSH6 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 MSH2 Sarah Leigh gene: MSH2 was added
gene: MSH2 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 MLH1 Sarah Leigh gene: MLH1 was added
gene: MLH1 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 CHEK2 Sarah Leigh gene: CHEK2 was added
gene: CHEK2 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 BRCA2 Sarah Leigh gene: BRCA2 was added
gene: BRCA2 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 BRCA1 Sarah Leigh gene: BRCA1 was added
gene: BRCA1 was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited prostate cancer v0.2 ATM Sarah Leigh gene: ATM was added
gene: ATM was added to Inherited prostate cancer. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v2.3 BRWD1 Sarah Leigh Tag Q2_21_rating was removed from gene: BRWD1.
Respiratory ciliopathies including non-CF bronchiectasis v2.3 AGR2 Sarah Leigh Tag Q1_22_rating was removed from gene: AGR2.
Respiratory ciliopathies including non-CF bronchiectasis v2.3 BRWD1 Sarah Leigh reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v2.3 AGR2 Sarah Leigh reviewed gene: AGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v2.2 AGR2 Sarah Leigh Source Expert Review Green was added to AGR2.
Source NHS GMS was added to AGR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pulmonary arterial hypertension v3.3 NFU1 Sarah Leigh Tag Q2_21_rating was removed from gene: NFU1.
Pulmonary arterial hypertension v3.3 NFU1 Sarah Leigh reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v2.40 COL3A1 Sarah Leigh Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Pneumothorax - familial v2.40 COL3A1 Sarah Leigh commented on gene: COL3A1
Pneumothorax - familial v2.39 COL3A1 Sarah Leigh Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Laterality disorders and isomerism v2.3 DNAAF2 Sarah Leigh Tag Q2_21_rating was removed from gene: DNAAF2.
Laterality disorders and isomerism v2.3 CFC1 Sarah Leigh Tag Q2_21_rating was removed from gene: CFC1.
Tag Q2_21_expert_review was removed from gene: CFC1.
Laterality disorders and isomerism v2.3 TTC25 Sarah Leigh Tag Q3_22_rating was removed from gene: TTC25.
Laterality disorders and isomerism v2.3 NODAL Sarah Leigh Tag Q3_22_rating was removed from gene: NODAL.
Tag Q3_22_expert_review was removed from gene: NODAL.
Laterality disorders and isomerism v2.3 CFAP52 Sarah Leigh Tag Q2_21_rating was removed from gene: CFAP52.
Laterality disorders and isomerism v2.3 CFAP45 Sarah Leigh Tag Q2_21_rating was removed from gene: CFAP45.
Laterality disorders and isomerism v2.3 DNAAF2 Sarah Leigh reviewed gene: DNAAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v2.3 CFC1 Sarah Leigh reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v2.3 TTC25 Sarah Leigh reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v2.3 NODAL Sarah Leigh reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v2.3 CFAP52 Sarah Leigh reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v2.3 CFAP45 Sarah Leigh reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v2.2 TTC25 Sarah Leigh Source Expert Review Green was added to TTC25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Laterality disorders and isomerism v2.2 NODAL Sarah Leigh Source Expert Review Red was added to NODAL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Laterality disorders and isomerism v2.2 CFAP52 Sarah Leigh Source Expert Review Green was added to CFAP52.
Source NHS GMS was added to CFAP52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Laterality disorders and isomerism v2.2 CFAP45 Sarah Leigh Source Expert Review Green was added to CFAP45.
Source NHS GMS was added to CFAP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v2.6 XPNPEP3 Sarah Leigh Tag Q1_22_rating was removed from gene: XPNPEP3.
Unexplained young onset end-stage renal disease v2.6 EMP2 Sarah Leigh Tag Q2_22_rating was removed from gene: EMP2.
Unexplained young onset end-stage renal disease v2.6 CFI Sarah Leigh Tag Q2_22_MOI was removed from gene: CFI.
Unexplained young onset end-stage renal disease v2.6 TTC21B Sarah Leigh Tag Q3_22_MOI was removed from gene: TTC21B.
Tag Q3_22_expert_review was removed from gene: TTC21B.
Unexplained young onset end-stage renal disease v2.6 CHRM3 Sarah Leigh Tag Q3_22_rating was removed from gene: CHRM3.
Unexplained young onset end-stage renal disease v2.6 XPNPEP3 Sarah Leigh commented on gene: XPNPEP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v2.6 EMP2 Sarah Leigh reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v2.6 CFI Sarah Leigh commented on gene: CFI: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v2.6 TTC21B Sarah Leigh commented on gene: TTC21B: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v2.6 CHRM3 Sarah Leigh reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v2.5 XPNPEP3 Sarah Leigh Source Expert Review Green was added to XPNPEP3.
Source NHS GMS was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v2.5 TTC21B Sarah Leigh Source NHS GMS was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v2.5 EMP2 Sarah Leigh Source Expert Review Amber was added to EMP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v2.5 CHRM3 Sarah Leigh Source Expert Review Green was added to CHRM3.
Source NHS GMS was added to CHRM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v2.5 CFI Sarah Leigh Source NHS GMS was added to CFI.
Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v3.3 SEC61A1 Sarah Leigh Tag Q2_22_rating was removed from gene: SEC61A1.
Tag Q2_22_phenotype was removed from gene: SEC61A1.
Tag Q2_22_expert_review was removed from gene: SEC61A1.
Renal tubulopathies v3.3 RRAGD Sarah Leigh Tag Q3_22_rating was removed from gene: RRAGD.
Tag Q3_22_NHS_review was removed from gene: RRAGD.
Renal tubulopathies v3.3 KCNJ16 Sarah Leigh Tag Q2_22_rating was removed from gene: KCNJ16.
Renal tubulopathies v3.3 CNNM2 Sarah Leigh Tag Q3_22_rating was removed from gene: CNNM2.
Tag Q3_22_MOI was removed from gene: CNNM2.
Tag Q3_22_NHS_review was removed from gene: CNNM2.
Renal tubulopathies v3.3 SEC61A1 Sarah Leigh reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Renal tubulopathies v3.3 RRAGD Sarah Leigh reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Renal tubulopathies v3.3 KCNJ16 Sarah Leigh reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Renal tubulopathies v3.3 CNNM2 Sarah Leigh reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Renal tubulopathies v3.2 SEC61A1 Sarah Leigh Source Expert Review Green was added to SEC61A1.
Source NHS GMS was added to SEC61A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v3.2 RRAGD Sarah Leigh Source Expert Review Green was added to RRAGD.
Source NHS GMS was added to RRAGD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v3.2 KCNJ16 Sarah Leigh Source Expert Review Green was added to KCNJ16.
Source NHS GMS was added to KCNJ16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v3.2 CNNM2 Sarah Leigh Source Expert Review Green was added to CNNM2.
Source NHS GMS was added to CNNM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained death in infancy and sudden unexplained death in childhood v3.29 Arina Puzriakova Panel status changed from internal to public
Unexplained death in infancy and sudden unexplained death in childhood v3.27 Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS Rare Disease
Rare genetic inflammatory skin disorders v2.1 COL5A2 Dmitrijs Rots reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL5A1 Dmitrijs Rots reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL4A5 Dmitrijs Rots reviewed gene: COL4A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL4A4 Dmitrijs Rots reviewed gene: COL4A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL4A3 Dmitrijs Rots reviewed gene: COL4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL3A1 Dmitrijs Rots reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL1A2 Dmitrijs Rots reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare genetic inflammatory skin disorders v2.1 COL1A1 Dmitrijs Rots reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paediatric disorders - additional genes v2.7 NHLRC2 Arina Puzriakova Tag Q2_22_rating was removed from gene: NHLRC2.
Tag Q2_22_expert_review was removed from gene: NHLRC2.
Paediatric disorders - additional genes v2.7 FOXP4 Arina Puzriakova Tag Q2_21_phenotype was removed from gene: FOXP4.
Tag Q2_22_rating was removed from gene: FOXP4.
Tag Q2_22_expert_review was removed from gene: FOXP4.
Paediatric disorders - additional genes v2.7 ADAMTS19 Arina Puzriakova Tag Q2_21_rating was removed from gene: ADAMTS19.
Tag Q2_21_phenotype was removed from gene: ADAMTS19.
Tag Q2_22_expert_review was removed from gene: ADAMTS19.
Paediatric disorders - additional genes v2.7 WBP11 Arina Puzriakova Tag Q2_21_rating was removed from gene: WBP11.
Paediatric disorders - additional genes v2.7 PLVAP Arina Puzriakova Tag Q2_21_rating was removed from gene: PLVAP.
Paediatric disorders - additional genes v2.7 PLD1 Arina Puzriakova Tag Q2_21_rating was removed from gene: PLD1.
Paediatric disorders - additional genes v2.7 OTUD5 Arina Puzriakova Tag Q2_21_rating was removed from gene: OTUD5.
Paediatric disorders - additional genes v2.7 FOXL2 Arina Puzriakova Tag Q2_22_rating was removed from gene: FOXL2.
Tag Q2_22_NHS_review was removed from gene: FOXL2.
Paediatric disorders - additional genes v2.7 CTU2 Arina Puzriakova Tag Q2_21_rating was removed from gene: CTU2.
Paediatric disorders - additional genes v2.7 FGF5 Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: FGF5.
Tag Q2_22_rating was removed from gene: FGF5.
Tag Q2_22_phenotype was removed from gene: FGF5.
Tag Q2_22_expert_review was removed from gene: FGF5.
Paediatric disorders - additional genes v2.7 TMEM260 Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM260.
Paediatric disorders - additional genes v2.7 SIX2 Arina Puzriakova Tag Q3_22_rating was removed from gene: SIX2.
Tag Q3_22_NHS_review was removed from gene: SIX2.
Paediatric disorders - additional genes v2.7 NHLRC2 Arina Puzriakova reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 FOXP4 Arina Puzriakova reviewed gene: FOXP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 ADAMTS19 Arina Puzriakova reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 WBP11 Arina Puzriakova reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 PLVAP Arina Puzriakova reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 PLD1 Arina Puzriakova reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 OTUD5 Arina Puzriakova commented on gene: OTUD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v2.7 FOXL2 Arina Puzriakova reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 CTU2 Arina Puzriakova reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 FGF5 Arina Puzriakova reviewed gene: FGF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 TMEM260 Arina Puzriakova reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.7 SIX2 Arina Puzriakova reviewed gene: SIX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric disorders - additional genes v2.6 WBP11 Arina Puzriakova Source Expert Review Green was added to WBP11.
Source NHS GMS was added to WBP11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 TMEM260 Arina Puzriakova Source Expert Review Green was added to TMEM260.
Source NHS GMS was added to TMEM260.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 SIX2 Arina Puzriakova Source Expert Review Green was added to SIX2.
Source NHS GMS was added to SIX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 PLVAP Arina Puzriakova Source Expert Review Green was added to PLVAP.
Source NHS GMS was added to PLVAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 PLD1 Arina Puzriakova Source Expert Review Green was added to PLD1.
Source NHS GMS was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 OTUD5 Arina Puzriakova Source Expert Review Green was added to OTUD5.
Source NHS GMS was added to OTUD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 NHLRC2 Arina Puzriakova Source Expert Review Green was added to NHLRC2.
Source NHS GMS was added to NHLRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 FOXP4 Arina Puzriakova Source Expert Review Green was added to FOXP4.
Source NHS GMS was added to FOXP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 FOXL2 Arina Puzriakova Source Expert Review Green was added to FOXL2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 FGF5 Arina Puzriakova Source NHS GMS was added to FGF5.
Paediatric disorders - additional genes v2.6 CTU2 Arina Puzriakova Source Expert Review Green was added to CTU2.
Source NHS GMS was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v2.6 ADAMTS19 Arina Puzriakova Source Expert Review Green was added to ADAMTS19.
Source NHS GMS was added to ADAMTS19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.53 CUX2 Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: CUX2.
Intellectual disability v4.53 RAP1GDS1 Arina Puzriakova Tag Q3_22_rating was removed from gene: RAP1GDS1.
Tag Q3_22_expert_review was removed from gene: RAP1GDS1.
Intellectual disability v4.53 ZC4H2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: ZC4H2.
Intellectual disability v4.53 PRODH Arina Puzriakova Tag Q2_22_rating was removed from gene: PRODH.
Tag Q2_22_expert_review was removed from gene: PRODH.
Tag Q2_22_NHS_review was removed from gene: PRODH.
Intellectual disability v4.53 ZBTB7A Arina Puzriakova Tag Q2_22_rating was removed from gene: ZBTB7A.
Tag Q2_22_NHS_review was removed from gene: ZBTB7A.
Intellectual disability v4.53 THUMPD1 Arina Puzriakova Tag Q2_22_rating was removed from gene: THUMPD1.
Tag Q2_22_NHS_review was removed from gene: THUMPD1.
Intellectual disability v4.53 SRRM2 Arina Puzriakova Tag Q2_22_rating was removed from gene: SRRM2.
Intellectual disability v4.53 SPRED2 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPRED2.
Intellectual disability v4.53 SPATA5L1 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1.
Intellectual disability v4.53 SNORD118 Arina Puzriakova Tag Q2_22_rating was removed from gene: SNORD118.
Tag Q2_22_NHS_review was removed from gene: SNORD118.
Intellectual disability v4.53 SLC12A5 Arina Puzriakova Tag Q1_22_MOI was removed from gene: SLC12A5.
Intellectual disability v4.53 SCAF4 Arina Puzriakova Tag Q2_22_rating was removed from gene: SCAF4.
Tag Q2_22_NHS_review was removed from gene: SCAF4.
Intellectual disability v4.53 PRPF8 Arina Puzriakova Tag Q2_22_rating was removed from gene: PRPF8.
Intellectual disability v4.53 PHF14 Arina Puzriakova Tag Q2_22_rating was removed from gene: PHF14.
Intellectual disability v4.53 PEX6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
Intellectual disability v4.53 NAPB Arina Puzriakova Tag Q2_22_rating was removed from gene: NAPB.
Tag Q2_22_NHS_review was removed from gene: NAPB.
Intellectual disability v4.53 MED13 Arina Puzriakova Tag Q2_22_rating was removed from gene: MED13.
Tag Q2_22_NHS_review was removed from gene: MED13.
Intellectual disability v4.53 KDM5C Arina Puzriakova Tag Q3_21_MOI was removed from gene: KDM5C.
Intellectual disability v4.53 HSPD1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: HSPD1.
Intellectual disability v4.53 DTYMK Arina Puzriakova Tag Q2_22_rating was removed from gene: DTYMK.
Intellectual disability v4.53 DROSHA Arina Puzriakova Tag Q2_22_rating was removed from gene: DROSHA.
Intellectual disability v4.53 DHDDS Arina Puzriakova Tag Q4_21_MOI was removed from gene: DHDDS.
Intellectual disability v4.53 COG5 Arina Puzriakova Tag Q3_21_MOI was removed from gene: COG5.
Intellectual disability v4.53 CELF2 Arina Puzriakova Tag Q2_22_rating was removed from gene: CELF2.
Tag Q2_22_NHS_review was removed from gene: CELF2.
Intellectual disability v4.53 CACNA2D1 Arina Puzriakova Tag Q2_22_rating was removed from gene: CACNA2D1.
Intellectual disability v4.53 BSCL2 Arina Puzriakova Tag Q3_21_MOI was removed from gene: BSCL2.
Intellectual disability v4.53 ARHGEF9 Arina Puzriakova Tag Q3_21_MOI was removed from gene: ARHGEF9.
Intellectual disability v4.53 AP1S2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: AP1S2.
Intellectual disability v4.53 AFF3 Arina Puzriakova Tag for-review was removed from gene: AFF3.
Intellectual disability v4.53 ACO2 Arina Puzriakova Tag Q2_22_MOI was removed from gene: ACO2.
Intellectual disability v4.53 ACER3 Arina Puzriakova Tag Q1_22_rating was removed from gene: ACER3.
Intellectual disability v4.53 ZMYM2 Arina Puzriakova Tag Q3_22_rating was removed from gene: ZMYM2.
Tag Q3_22_NHS_review was removed from gene: ZMYM2.
Intellectual disability v4.53 WNK3 Arina Puzriakova Tag Q3_22_rating was removed from gene: WNK3.
Intellectual disability v4.53 TPP2 Arina Puzriakova Tag Q3_22_rating was removed from gene: TPP2.
Intellectual disability v4.53 TMEM63C Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM63C.
Intellectual disability v4.53 TIAM1 Arina Puzriakova Tag Q3_22_rating was removed from gene: TIAM1.
Tag Q3_22_MOI was removed from gene: TIAM1.
Intellectual disability v4.53 TAF8 Arina Puzriakova Tag Q3_22_rating was removed from gene: TAF8.
Tag Q3_22_NHS_review was removed from gene: TAF8.
Proteinuric renal disease v3.3 GLA Sarah Leigh Tag Q3_22_rating was removed from gene: GLA.
Tag Q3_22_NHS_review was removed from gene: GLA.
Proteinuric renal disease v3.3 EMP2 Sarah Leigh Tag Q2_22_rating was removed from gene: EMP2.
Tag Q2_22_expert_review was removed from gene: EMP2.
Proteinuric renal disease v3.3 GLA Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v3.3 EMP2 Sarah Leigh reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v3.2 GLA Sarah Leigh Source Expert Review Green was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v3.2 EMP2 Sarah Leigh Source Expert Review Amber was added to EMP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.10 TOR1A Eleanor Williams Tag Q1_22_MOI was removed from gene: TOR1A.
Dystonia, chorea or related movement disorder, childhood onset v2.10 TOR1A Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 SPATA5L1 Eleanor Williams Tag Q1_22_rating was removed from gene: SPATA5L1.
Dystonia, chorea or related movement disorder, childhood onset v2.10 SPATA5L1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 SNORD118 Eleanor Williams Tag Q2_22_rating was removed from gene: SNORD118.
Dystonia, chorea or related movement disorder, childhood onset v2.10 SNORD118 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 PNPT1 Eleanor Williams Tag Q1_22_rating was removed from gene: PNPT1.
Dystonia, chorea or related movement disorder, childhood onset v2.10 PNPT1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 NDUFA12 Eleanor Williams Tag Q3_22_rating was removed from gene: NDUFA12.
Dystonia, chorea or related movement disorder, childhood onset v2.10 NDUFA12 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 HSPD1 Eleanor Williams Tag Q2_22_MOI was removed from gene: HSPD1.
Dystonia, chorea or related movement disorder, childhood onset v2.10 HSPD1 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 HECW2 Eleanor Williams Tag Q3_22_rating was removed from gene: HECW2.
Dystonia, chorea or related movement disorder, childhood onset v2.10 HECW2 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 ATP5G3 Eleanor Williams Tag Q3_22_rating was removed from gene: ATP5G3.
Dystonia, chorea or related movement disorder, childhood onset v2.10 ATP5G3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 AP1S2 Eleanor Williams Tag Q4_21_MOI was removed from gene: AP1S2.
Dystonia, chorea or related movement disorder, childhood onset v2.10 AP1S2 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 ACER3 Eleanor Williams Tag Q1_22_rating was removed from gene: ACER3.
Dystonia, chorea or related movement disorder, childhood onset v2.10 ACER3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: 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.
Dystonia, chorea or related movement disorder, childhood onset v2.10 CACNB4 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 TOR1A Eleanor Williams commented on gene: TOR1A
Dystonia, chorea or related movement disorder, childhood onset v2.10 SPATA5L1 Eleanor Williams reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v2.10 SNORD118 Eleanor Williams reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v2.10 PNPT1 Eleanor Williams reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v2.10 NDUFA12 Eleanor Williams reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v2.10 HSPD1 Eleanor Williams commented on gene: HSPD1
Dystonia, chorea or related movement disorder, childhood onset v2.10 HECW2 Eleanor Williams reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v2.10 COL6A3 Eleanor Williams commented on gene: COL6A3: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v2.10 CACNB4 Eleanor Williams commented on gene: CACNB4
Dystonia, chorea or related movement disorder, childhood onset v2.10 ATP5G3 Eleanor Williams reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v2.10 AP1S2 Eleanor Williams commented on gene: AP1S2
Dystonia, chorea or related movement disorder, childhood onset v2.10 ACER3 Eleanor Williams reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Leukodystrophy, adult onset v2.46 TTR Sarah Leigh Tag Q1_23_promote_green was removed from gene: TTR.
Tag Q1_23_NHS_review was removed from gene: TTR.
Leukodystrophy, adult onset v2.46 PSEN1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PSEN1.
Tag Q1_23_NHS_review was removed from gene: PSEN1.
Leukodystrophy, adult onset v2.46 PRNP Sarah Leigh Tag Q1_23_promote_green was removed from gene: PRNP.
Tag Q1_23_NHS_review was removed from gene: PRNP.
Leukodystrophy, adult onset v2.46 ITM2B Sarah Leigh Tag Q1_23_promote_green was removed from gene: ITM2B.
Tag Q1_23_NHS_review was removed from gene: ITM2B.
Leukodystrophy, adult onset v2.46 GSN Sarah Leigh Tag Q1_23_promote_green was removed from gene: GSN.
Tag Q1_23_NHS_review was removed from gene: GSN.
Leukodystrophy, adult onset v2.46 APP Sarah Leigh Tag Q1_23_promote_green was removed from gene: APP.
Leukodystrophy, adult onset v2.46 APP Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 LAMB1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: LAMB1.
Tag Q1_23_MOI was removed from gene: LAMB1.
Tag Q1_23_NHS_review was removed from gene: LAMB1.
Leukodystrophy, adult onset v2.46 PSEN2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PSEN2.
Tag Q1_23_NHS_review was removed from gene: PSEN2.
Dystonia, chorea or related movement disorder, childhood onset v2.9 FXN_GAA Eleanor Williams reviewed STR: FXN_GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dystonia, chorea or related movement disorder, childhood onset v2.9 FXN_GAA Eleanor Williams Tag Q2_21_rating was removed from STR: FXN_GAA.
Dystonia, chorea or related movement disorder, childhood onset v2.9 FXN_GAA Eleanor Williams Classified STR: FXN_GAA as Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.9 FXN_GAA Eleanor Williams Str: fxn_gaa has been classified as Green List (High Evidence).
Leukodystrophy, adult onset v2.46 PSEN2 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Amber and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 GLA Sarah Leigh Tag Q3_22_MOI was removed from gene: GLA.
Intellectual disability v4.53 STT3A Arina Puzriakova Tag Q3_22_MOI was removed from gene: STT3A.
Tag Q3_22_NHS_review was removed from gene: STT3A.
Intellectual disability v4.53 SLC38A3 Arina Puzriakova Tag Q3_22_rating was removed from gene: SLC38A3.
Intellectual disability v4.53 SCAMP5 Arina Puzriakova Tag Q3_22_rating was removed from gene: SCAMP5.
Intellectual disability v4.53 RAB11A Arina Puzriakova Tag watchlist was removed from gene: RAB11A.
Tag Q3_22_rating was removed from gene: RAB11A.
Intellectual disability v4.53 PRDM13 Arina Puzriakova Tag Q3_22_rating was removed from gene: PRDM13.
Intellectual disability v4.53 POLRMT Arina Puzriakova Tag Q3_22_rating was removed from gene: POLRMT.
Intellectual disability v4.53 PDZD8 Arina Puzriakova Tag Q3_22_rating was removed from gene: PDZD8.
Dystonia, chorea or related movement disorder, childhood onset v2.8 TOR1A Eleanor Williams Mode of inheritance for gene TOR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v2.8 SPATA5L1 Eleanor Williams Source Expert Review Green was added to SPATA5L1.
Source NHS GMS was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.8 SNORD118 Eleanor Williams Source Expert Review Green was added to SNORD118.
Source NHS GMS was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.8 PNPT1 Eleanor Williams Source Expert Review Green was added to PNPT1.
Source NHS GMS was added to PNPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.8 NDUFA12 Eleanor Williams Source Expert Review Green was added to NDUFA12.
Source NHS GMS was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.8 HSPD1 Eleanor Williams Mode of inheritance for gene HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v2.8 HECW2 Eleanor Williams Source Expert Review Green was added to HECW2.
Source NHS GMS was added to HECW2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.8 COL6A3 Eleanor Williams Mode of inheritance for gene COL6A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v2.8 CACNB4 Eleanor Williams Source NHS GMS was added to CACNB4.
Mode of inheritance for gene CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v2.8 ATP5G3 Eleanor Williams Source Expert Review Green was added to ATP5G3.
Source NHS GMS was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v2.8 AP1S2 Eleanor Williams Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dystonia, chorea or related movement disorder, childhood onset v2.8 ACER3 Eleanor Williams Source Expert Review Green was added to ACER3.
Source NHS GMS was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.53 OGDHL Arina Puzriakova Tag Q3_22_rating was removed from gene: OGDHL.
Intellectual disability v4.53 NSRP1 Arina Puzriakova Tag Q3_22_rating was removed from gene: NSRP1.
Intellectual disability v4.53 NRCAM Arina Puzriakova Tag Q3_22_rating was removed from gene: NRCAM.
Intellectual disability v4.53 HMGB1 Arina Puzriakova Tag Q3_22_rating was removed from gene: HMGB1.
Intellectual disability v4.53 HK1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: HK1.
Tag Q3_22_NHS_review was removed from gene: HK1.
Intellectual disability v4.53 GLRA2 Arina Puzriakova Tag Q3_22_rating was removed from gene: GLRA2.
Intellectual disability v4.53 FBXW7 Arina Puzriakova Tag Q3_22_rating was removed from gene: FBXW7.
Tag Q3_22_MOI was removed from gene: FBXW7.
Intellectual disability v4.53 FBXO28 Arina Puzriakova Tag Q3_22_rating was removed from gene: FBXO28.
Tag Q3_22_MOI was removed from gene: FBXO28.
Intellectual disability v4.53 EMC1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: EMC1.
Intellectual disability v4.53 EDEM3 Arina Puzriakova Tag Q3_22_rating was removed from gene: EDEM3.
Intellectual disability v4.53 DOCK8 Arina Puzriakova Tag Q3_22_rating was removed from gene: DOCK8.
Tag Q3_22_MOI was removed from gene: DOCK8.
Tag Q3_22_NHS_review was removed from gene: DOCK8.
Tag Q3_22_expert_review was removed from gene: DOCK8.
Leukodystrophy, adult onset v2.46 TTR Sarah Leigh commented on gene: TTR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 PSEN2 Sarah Leigh edited their review of gene: PSEN2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Leukodystrophy, adult onset v2.46 PSEN1 Sarah Leigh commented on gene: PSEN1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 PRNP Sarah Leigh commented on gene: PRNP: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 LAMB1 Sarah Leigh commented on gene: LAMB1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 ITM2B Sarah Leigh commented on gene: ITM2B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 GSN Sarah Leigh commented on gene: GSN: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 GLA Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Leukodystrophy, adult onset v2.46 CST3 Sarah Leigh commented on gene: CST3: The rating of this gene has been updated to Amber and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v2.46 APP Sarah Leigh reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Leukodystrophy, adult onset v2.45 TTR Sarah Leigh Source Expert Review Green was added to TTR.
Source NHS GMS was added to TTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v2.45 PSEN2 Sarah Leigh Source NHS GMS was added to PSEN2.
Leukodystrophy, adult onset v2.45 PSEN1 Sarah Leigh Source Expert Review Green was added to PSEN1.
Source NHS GMS was added to PSEN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v2.45 PRNP Sarah Leigh Source Expert Review Green was added to PRNP.
Source NHS GMS was added to PRNP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v2.45 LAMB1 Sarah Leigh Source Expert Review Green was added to LAMB1.
Source NHS GMS was added to LAMB1.
Mode of inheritance for gene LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v2.45 ITM2B Sarah Leigh Source Expert Review Green was added to ITM2B.
Source NHS GMS was added to ITM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v2.45 GSN Sarah Leigh Source Expert Review Green was added to GSN.
Source NHS GMS was added to GSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v2.45 GLA Sarah Leigh Mode of inheritance for gene GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Leukodystrophy, adult onset v2.45 CST3 Sarah Leigh Source NHS GMS was added to CST3.
Leukodystrophy, adult onset v2.45 APP Sarah Leigh Source Expert Review Green was added to APP.
Source NHS GMS was added to APP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.53 CUL3 Arina Puzriakova Tag Q3_22_rating was removed from gene: CUL3.
Tag Q3_22_NHS_review was removed from gene: CUL3.
Intellectual disability v4.53 CHKA Arina Puzriakova Tag Q3_22_rating was removed from gene: CHKA.
Intellectual disability v4.53 CCDC32 Arina Puzriakova Tag watchlist was removed from gene: CCDC32.
Tag Q3_22_rating was removed from gene: CCDC32.
Intellectual disability v4.53 CACNA1A Arina Puzriakova Tag Q3_22_MOI was removed from gene: CACNA1A.
Intellectual disability v4.53 BLOC1S1 Arina Puzriakova Tag Q3_22_rating was removed from gene: BLOC1S1.
Intellectual disability v4.53 ATP6V0A1 Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP6V0A1.
Tag Q3_22_NHS_review was removed from gene: ATP6V0A1.
Intellectual disability v4.53 ATP2B1 Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP2B1.
Intellectual disability v4.53 ATG7 Arina Puzriakova Tag Q3_22_rating was removed from gene: ATG7.
Intellectual disability v4.53 ANK3 Arina Puzriakova Tag Q3_22_rating was removed from gene: ANK3.
Tag Q3_22_MOI was removed from gene: ANK3.
Tag Q3_22_NHS_review was removed from gene: ANK3.
Intellectual disability v4.53 ALKBH8 Arina Puzriakova Tag Q3_22_rating was removed from gene: ALKBH8.
Intellectual disability v4.53 ADD1 Arina Puzriakova Tag Q3_22_rating was removed from gene: ADD1.
Intellectual disability v4.53 PHF14 Arina Puzriakova reviewed gene: PHF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 DROSHA Arina Puzriakova reviewed gene: DROSHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 RAP1GDS1 Arina Puzriakova edited their review of gene: RAP1GDS1: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Intellectual disability v4.53 PRODH Arina Puzriakova reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 ZC4H2 Arina Puzriakova commented on gene: ZC4H2
Intellectual disability v4.53 ZBTB7A Arina Puzriakova reviewed gene: ZBTB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 THUMPD1 Arina Puzriakova reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 SRRM2 Arina Puzriakova reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 SPRED2 Arina Puzriakova reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 SPATA5L1 Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 SNORD118 Arina Puzriakova reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 SLC12A5 Arina Puzriakova commented on gene: SLC12A5
Intellectual disability v4.53 SCAF4 Arina Puzriakova edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v4.53 PRPF8 Arina Puzriakova reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 PEX6 Arina Puzriakova commented on gene: PEX6
Intellectual disability v4.53 NAPB Arina Puzriakova edited their review of gene: NAPB: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 MED13 Arina Puzriakova reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 KDM5C Arina Puzriakova commented on gene: KDM5C: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 HSPD1 Arina Puzriakova commented on gene: HSPD1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 DTYMK Arina Puzriakova reviewed gene: DTYMK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 DHDDS Arina Puzriakova commented on gene: DHDDS: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 COG5 Arina Puzriakova commented on gene: COG5
Intellectual disability v4.53 CELF2 Arina Puzriakova edited their review of gene: CELF2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v4.53 CACNA2D1 Arina Puzriakova reviewed gene: CACNA2D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 BSCL2 Arina Puzriakova commented on gene: BSCL2: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 ARHGEF9 Arina Puzriakova commented on gene: ARHGEF9: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 AP1S2 Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 AFF3 Arina Puzriakova edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v4.53 ACO2 Arina Puzriakova commented on gene: ACO2
Intellectual disability v4.53 ACER3 Arina Puzriakova commented on gene: ACER3: 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.
Intellectual disability v4.53 ZMYM2 Arina Puzriakova reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 TPP2 Arina Puzriakova reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 TMEM63C Arina Puzriakova reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 TIAM1 Arina Puzriakova reviewed gene: TIAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 TAF8 Arina Puzriakova edited their review of gene: TAF8: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 STT3A Arina Puzriakova commented on gene: STT3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 SLC38A3 Arina Puzriakova reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 SCAMP5 Arina Puzriakova reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 RAB11A Arina Puzriakova reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 PRDM13 Arina Puzriakova reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 POLRMT Arina Puzriakova edited their review of gene: POLRMT: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v4.53 PDZD8 Arina Puzriakova reviewed gene: PDZD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 OGDHL Arina Puzriakova edited their review of gene: OGDHL: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 NSRP1 Arina Puzriakova edited their review of gene: NSRP1: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 NRCAM Arina Puzriakova reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v4.53 HK1 Arina Puzriakova commented on gene: HK1
Intellectual disability v4.53 GLRA2 Arina Puzriakova reviewed gene: GLRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 FBXW7 Arina Puzriakova reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 FBXO28 Arina Puzriakova reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 EMC1 Arina Puzriakova commented on gene: EMC1
Intellectual disability v4.53 EDEM3 Arina Puzriakova edited their review of gene: EDEM3: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 DOCK8 Arina Puzriakova reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 CUL3 Arina Puzriakova edited their review of gene: CUL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v4.53 CHKA Arina Puzriakova reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 CCDC32 Arina Puzriakova reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 CACNA1A Arina Puzriakova commented on gene: CACNA1A
Intellectual disability v4.53 BLOC1S1 Arina Puzriakova edited their review of gene: BLOC1S1: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 ATP6V0A1 Arina Puzriakova reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 ATP2B1 Arina Puzriakova reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 ATG7 Arina Puzriakova edited their review of gene: ATG7: Added comment: 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.; Changed rating: GREEN
Intellectual disability v4.53 ANK3 Arina Puzriakova reviewed gene: ANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.53 ALKBH8 Arina Puzriakova commented on gene: ALKBH8: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability v4.53 ADD1 Arina Puzriakova reviewed gene: ADD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v4.52 ZMYM2 Arina Puzriakova Source NHS GMS was added to ZMYM2.
Source Expert Review Green was added to ZMYM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ZC4H2 Arina Puzriakova Source NHS GMS was added to ZC4H2.
Mode of inheritance for gene ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v4.52 ZBTB7A Arina Puzriakova Source NHS GMS was added to ZBTB7A.
Source Expert Review Green was added to ZBTB7A.
Mode of inheritance for gene ZBTB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 WNK3 Arina Puzriakova Source NHS GMS was added to WNK3.
Source Expert Review Green was added to WNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 TPP2 Arina Puzriakova Source NHS GMS was added to TPP2.
Source Expert Review Green was added to TPP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 TMEM63C Arina Puzriakova Source NHS GMS was added to TMEM63C.
Source Expert Review Green was added to TMEM63C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 TIAM1 Arina Puzriakova Source NHS GMS was added to TIAM1.
Source Expert Review Green was added to TIAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 THUMPD1 Arina Puzriakova Source NHS GMS was added to THUMPD1.
Source Expert Review Green was added to THUMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 TAF8 Arina Puzriakova Source NHS GMS was added to TAF8.
Source Expert Review Green was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 STT3A Arina Puzriakova Source NHS GMS was added to STT3A.
Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v4.52 SRRM2 Arina Puzriakova Source NHS GMS was added to SRRM2.
Source Expert Review Green was added to SRRM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 SPRED2 Arina Puzriakova Source NHS GMS was added to SPRED2.
Source Expert Review Green was added to SPRED2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 SPATA5L1 Arina Puzriakova Source NHS GMS was added to SPATA5L1.
Source Expert Review Green was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 SNORD118 Arina Puzriakova Source NHS GMS was added to SNORD118.
Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 SLC38A3 Arina Puzriakova Source NHS GMS was added to SLC38A3.
Source Expert Review Green was added to SLC38A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 SLC12A5 Arina Puzriakova Source NHS GMS was added to SLC12A5.
Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.52 SCAMP5 Arina Puzriakova Source Expert Review Green was added to SCAMP5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 SCAF4 Arina Puzriakova Source NHS GMS was added to SCAF4.
Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 RAB11A Arina Puzriakova Source NHS GMS was added to RAB11A.
Source Expert Review Green was added to RAB11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 PRPF8 Arina Puzriakova Source NHS GMS was added to PRPF8.
Source Expert Review Green was added to PRPF8.
Mode of inheritance for gene PRPF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 PRODH Arina Puzriakova Source Expert Review Amber was added to PRODH.
Source NHS GMS was added to PRODH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v4.52 PRDM13 Arina Puzriakova Source NHS GMS was added to PRDM13.
Source Expert Review Green was added to PRDM13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 POLRMT Arina Puzriakova Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 PHF14 Arina Puzriakova Source NHS GMS was added to PHF14.
Intellectual disability v4.52 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v4.52 PDZD8 Arina Puzriakova Source NHS GMS was added to PDZD8.
Source Expert Review Green was added to PDZD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 OGDHL Arina Puzriakova Source NHS GMS was added to OGDHL.
Source Expert Review Green was added to OGDHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 NSRP1 Arina Puzriakova Source NHS GMS was added to NSRP1.
Source Expert Review Green was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 NRCAM Arina Puzriakova Source NHS GMS was added to NRCAM.
Source Expert Review Green was added to NRCAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 NAPB Arina Puzriakova Source Expert Review Green was added to NAPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 MED13 Arina Puzriakova Source NHS GMS was added to MED13.
Source Expert Review Green was added to MED13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 KDM5C Arina Puzriakova Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v4.52 HSPD1 Arina Puzriakova Source NHS GMS was added to HSPD1.
Mode of inheritance for gene HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.52 HMGB1 Arina Puzriakova Source NHS GMS was added to HMGB1.
Source Expert Review Green was added to HMGB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 HK1 Arina Puzriakova Source NHS GMS was added to HK1.
Mode of inheritance for gene HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v4.52 GLRA2 Arina Puzriakova Source NHS GMS was added to GLRA2.
Source Expert Review Green was added to GLRA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 FBXW7 Arina Puzriakova Source NHS GMS was added to FBXW7.
Source Expert Review Green was added to FBXW7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 FBXO28 Arina Puzriakova Source NHS GMS was added to FBXO28.
Source Expert Review Green was added to FBXO28.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 EMC1 Arina Puzriakova Source NHS GMS was added to EMC1.
Mode of inheritance for gene EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v4.52 EDEM3 Arina Puzriakova Source NHS GMS was added to EDEM3.
Source Expert Review Green was added to EDEM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 DTYMK Arina Puzriakova Source NHS GMS was added to DTYMK.
Source Expert Review Green was added to DTYMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 DROSHA Arina Puzriakova Source NHS GMS was added to DROSHA.
Intellectual disability v4.52 DOCK8 Arina Puzriakova Source Expert Review Amber was added to DOCK8.
Source NHS GMS was added to DOCK8.
Mode of inheritance for gene DOCK8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v4.52 DHDDS Arina Puzriakova Source NHS GMS was added to DHDDS.
Mode of inheritance for gene DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v4.52 CUL3 Arina Puzriakova Source NHS GMS was added to CUL3.
Source Expert Review Green was added to CUL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 COG5 Arina Puzriakova Source NHS GMS was added to COG5.
Mode of inheritance for gene COG5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.52 CHKA Arina Puzriakova Source NHS GMS was added to CHKA.
Source Expert Review Green was added to CHKA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 CELF2 Arina Puzriakova Source NHS GMS was added to CELF2.
Source Expert Review Green was added to CELF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 CCDC32 Arina Puzriakova Source NHS GMS was added to CCDC32.
Source Expert Review Green was added to CCDC32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 CACNA2D1 Arina Puzriakova Source NHS GMS was added to CACNA2D1.
Source Expert Review Green was added to CACNA2D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 CACNA1A Arina Puzriakova Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v4.52 BSCL2 Arina Puzriakova Source NHS GMS was added to BSCL2.
Mode of inheritance for gene BSCL2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.52 BLOC1S1 Arina Puzriakova Source NHS GMS was added to BLOC1S1.
Source Expert Review Green was added to BLOC1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ATP6V0A1 Arina Puzriakova Source NHS GMS was added to ATP6V0A1.
Source Expert Review Green was added to ATP6V0A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ATP2B1 Arina Puzriakova Source NHS GMS was added to ATP2B1.
Source Expert Review Green was added to ATP2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ATG7 Arina Puzriakova Source NHS GMS was added to ATG7.
Source Expert Review Green was added to ATG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ARHGEF9 Arina Puzriakova Source NHS GMS was added to ARHGEF9.
Mode of inheritance for gene ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v4.52 AP1S2 Arina Puzriakova Source NHS GMS was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v4.52 ANK3 Arina Puzriakova Source NHS GMS was added to ANK3.
Source Expert Review Green was added to ANK3.
Mode of inheritance for gene ANK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ALKBH8 Arina Puzriakova Source NHS GMS was added to ALKBH8.
Source Expert Review Green was added to ALKBH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 AFF3 Arina Puzriakova Source NHS GMS was added to AFF3.
Source Expert Review Green was added to AFF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ADD1 Arina Puzriakova Source NHS GMS was added to ADD1.
Source Expert Review Green was added to ADD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v4.52 ACO2 Arina Puzriakova Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v4.52 ACER3 Arina Puzriakova Source NHS GMS was added to ACER3.
Source Expert Review Green was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v2.4 MBD4 Arina Puzriakova Tag Q3_22_rating was removed from gene: MBD4.
Tag Q3_22_NHS_review was removed from gene: MBD4.
Tag Q3_22_expert_review was removed from gene: MBD4.
Inherited polyposis and early onset colorectal cancer - germline testing v2.4 MBD4 Arina Puzriakova Source NHS GMS was added to MBD4.
Inherited polyposis and early onset colorectal cancer - germline testing v2.3 MBD4 Arina Puzriakova commented on gene: MBD4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.
Inherited ovarian cancer (without breast cancer) v3.3 BRCA1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: BRCA1.
Tag Q2_22_expert_review was removed from gene: BRCA1.
Inherited ovarian cancer (without breast cancer) v3.3 BRCA1 Arina Puzriakova commented on gene: BRCA1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Inherited ovarian cancer (without breast cancer) v3.2 BRCA1 Arina Puzriakova Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited breast cancer and ovarian cancer v1.3 BRCA1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: BRCA1.
Tag Q2_22_expert_review was removed from gene: BRCA1.
Inherited breast cancer and ovarian cancer v1.3 BRCA1 Arina Puzriakova Source NHS GMS was added to BRCA1.
Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited breast cancer and ovarian cancer v1.2 BRCA1 Arina Puzriakova commented on gene: BRCA1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 SCUBE3 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: SCUBE3.
Fetal anomalies v2.10 RAB11A Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: RAB11A.
Fetal anomalies v2.10 MED12 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MED12.
Fetal anomalies v2.10 LIFR Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: LIFR.
Fetal anomalies v2.10 FOXP4 Arina Puzriakova Tag Q2_21_rating was removed from gene: FOXP4.
Tag Q2_21_phenotype was removed from gene: FOXP4.
Tag Q2_21_expert_review was removed from gene: FOXP4.
Fetal anomalies v2.10 WNT7B Arina Puzriakova Tag Q3_22_rating was removed from gene: WNT7B.
Tag Q3_22_NHS_review was removed from gene: WNT7B.
Fetal anomalies v2.10 WBP11 Arina Puzriakova Tag Q2_21_rating was removed from gene: WBP11.
Fetal anomalies v2.10 TMEM70 Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM70.
Tag Q3_22_NHS_review was removed from gene: TMEM70.
Fetal anomalies v2.10 TMEM260 Arina Puzriakova Tag Q4_21_rating was removed from gene: TMEM260.
Fetal anomalies v2.10 TLL1 Arina Puzriakova Tag Q1_22_rating was removed from gene: TLL1.
Fetal anomalies v2.10 SYNE1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SYNE1.
Fetal anomalies v2.10 SLC20A1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC20A1.
Fetal anomalies v2.10 SLC12A6 Arina Puzriakova Tag for-review was removed from gene: SLC12A6.
Fetal anomalies v2.10 SETD2 Arina Puzriakova Tag Q3_22_rating was removed from gene: SETD2.
Tag Q3_22_NHS_review was removed from gene: SETD2.
Fetal anomalies v2.10 RAC3 Arina Puzriakova Tag Q2_22_rating was removed from gene: RAC3.
Fetal anomalies v2.10 PLD1 Arina Puzriakova Tag Q2_21_rating was removed from gene: PLD1.
Tag Q3_22_NHS_review was removed from gene: PLD1.
Fetal anomalies v2.10 PLCB4 Arina Puzriakova Tag Q2_22_rating was removed from gene: PLCB4.
Fetal anomalies v2.10 PEX6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
Fetal anomalies v2.10 OTUD5 Arina Puzriakova Tag Q2_21_rating was removed from gene: OTUD5.
Fetal anomalies v2.10 NDUFB11 Arina Puzriakova Tag Q3_22_rating was removed from gene: NDUFB11.
Tag Q3_22_NHS_review was removed from gene: NDUFB11.
White matter disorders and cerebral calcification - childhood onset v2.9 ZFYVE26 Sarah Leigh Tag Q2_21_rating was removed from gene: ZFYVE26.
White matter disorders and cerebral calcification - childhood onset v2.9 WARS2 Sarah Leigh Tag Q2_21_rating was removed from gene: WARS2.
Fetal anomalies v2.10 MYH6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: MYH6.
White matter disorders and cerebral calcification - childhood onset v2.9 VPS11 Sarah Leigh Tag Q2_21_rating was removed from gene: VPS11.
Fetal anomalies v2.10 MTM1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: MTM1.
White matter disorders and cerebral calcification - childhood onset v2.9 UFM1 Sarah Leigh Tag Q2_21_rating was removed from gene: UFM1.
White matter disorders and cerebral calcification - childhood onset v2.9 TUFM Sarah Leigh Tag Q2_21_rating was removed from gene: TUFM.
White matter disorders and cerebral calcification - childhood onset v2.9 TMEM63A Sarah Leigh Tag Q2_21_rating was removed from gene: TMEM63A.
White matter disorders and cerebral calcification - childhood onset v2.9 SPG11 Sarah Leigh Tag Q2_21_rating was removed from gene: SPG11.
Fetal anomalies v2.10 MED13L Arina Puzriakova Tag Q3_22_rating was removed from gene: MED13L.
Tag Q3_22_NHS_review was removed from gene: MED13L.
White matter disorders and cerebral calcification - childhood onset v2.9 SPART Sarah Leigh Tag Q2_21_rating was removed from gene: SPART.
Fetal anomalies v2.10 LTBP3 Arina Puzriakova Tag Q1_22_MOI was removed from gene: LTBP3.
Fetal anomalies v2.10 LARS2 Arina Puzriakova Tag Q2_21_rating was removed from gene: LARS2.
White matter disorders and cerebral calcification - childhood onset v2.9 SNORD118 Sarah Leigh Tag Q2_21_rating was removed from gene: SNORD118.
Tag Q2_22_rating was removed from gene: SNORD118.
Tag Q2_22_NHS_review was removed from gene: SNORD118.
White matter disorders and cerebral calcification - childhood onset v2.9 SDHA Sarah Leigh Tag Q2_21_rating was removed from gene: SDHA.
Fetal anomalies v2.10 KIDINS220 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: KIDINS220.
White matter disorders and cerebral calcification - childhood onset v2.9 RPIA Sarah Leigh Tag Q2_21_rating was removed from gene: RPIA.
White matter disorders and cerebral calcification - childhood onset v2.9 RNF220 Sarah Leigh Tag Q4_21_rating was removed from gene: RNF220.
Fetal anomalies v2.10 HSF4 Arina Puzriakova Tag Q1_22_MOI was removed from gene: HSF4.
Fetal anomalies v2.10 GRIN1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GRIN1.
White matter disorders and cerebral calcification - childhood onset v2.9 RAB11B Sarah Leigh Tag Q2_21_rating was removed from gene: RAB11B.
White matter disorders and cerebral calcification - childhood onset v2.9 PTEN Sarah Leigh Tag Q3_21_rating was removed from gene: PTEN.
White matter disorders and cerebral calcification - childhood onset v2.9 POLH Sarah Leigh Tag Q2_21_rating was removed from gene: POLH.
White matter disorders and cerebral calcification - childhood onset v2.9 POLH Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 FBN2 Arina Puzriakova Tag Q2_21_MOI was removed from gene: FBN2.
White matter disorders and cerebral calcification - childhood onset v2.9 PNPT1 Sarah Leigh Tag Q1_22_rating was removed from gene: PNPT1.
White matter disorders and cerebral calcification - childhood onset v2.9 PI4KA Sarah Leigh Tag Q3_21_rating was removed from gene: PI4KA.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.31 CFHR5 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: CFHR5.
Tag Q2_22_NHS_review was removed from gene: CFHR5.
White matter disorders and cerebral calcification - childhood onset v2.9 PEX6 Sarah Leigh Tag Q1_22_MOI was removed from gene: PEX6.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.31 CFHR5 Achchuthan Shanmugasundram Classified gene: CFHR5 as Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.31 CFHR5 Achchuthan Shanmugasundram Gene: cfhr5 has been classified as Green List (High Evidence).
White matter disorders and cerebral calcification - childhood onset v2.9 NFU1 Sarah Leigh Tag Q2_21_rating was removed from gene: NFU1.
White matter disorders and cerebral calcification - childhood onset v2.9 NAXE Sarah Leigh Tag Q2_21_rating was removed from gene: NAXE.
White matter disorders and cerebral calcification - childhood onset v2.9 NAXD Sarah Leigh Tag Q2_21_rating was removed from gene: NAXD.
White matter disorders and cerebral calcification - childhood onset v2.9 LIG3 Sarah Leigh Tag Q2_21_rating was removed from gene: LIG3.
White matter disorders and cerebral calcification - childhood onset v2.9 KIF5A Sarah Leigh Tag Q2_21_rating was removed from gene: KIF5A.
White matter disorders and cerebral calcification - childhood onset v2.9 KIAA1161 Sarah Leigh Tag Q2_21_rating was removed from gene: KIAA1161.
White matter disorders and cerebral calcification - childhood onset v2.9 ISCA2 Sarah Leigh Tag Q2_21_rating was removed from gene: ISCA2.
White matter disorders and cerebral calcification - childhood onset v2.9 ISCA1 Sarah Leigh Tag Q2_21_rating was removed from gene: ISCA1.
White matter disorders and cerebral calcification - childhood onset v2.9 HSPD1 Sarah Leigh Tag Q2_21_rating was removed from gene: HSPD1.
White matter disorders and cerebral calcification - childhood onset v2.9 HIKESHI Sarah Leigh Tag Q2_21_rating was removed from gene: HIKESHI.
Fetal anomalies v2.10 EHBP1L1 Arina Puzriakova Tag Q4_21_rating was removed from gene: EHBP1L1.
White matter disorders and cerebral calcification - childhood onset v2.9 GLRX5 Sarah Leigh Tag Q2_21_rating was removed from gene: GLRX5.
Fetal anomalies v2.10 EDNRB Arina Puzriakova Tag Q4_21_MOI was removed from gene: EDNRB.
Fetal anomalies v2.10 EDA Arina Puzriakova Tag Q3_22_rating was removed from gene: EDA.
Tag Q3_22_NHS_review was removed from gene: EDA.
White matter disorders and cerebral calcification - childhood onset v2.9 GLB1 Sarah Leigh Tag Q2_21_rating was removed from gene: GLB1.
Fetal anomalies v2.10 DPH1 Arina Puzriakova Tag Q2_21_rating was removed from gene: DPH1.
White matter disorders and cerebral calcification - childhood onset v2.9 FARSA Sarah Leigh Tag Q4_21_rating was removed from gene: FARSA.
White matter disorders and cerebral calcification - childhood onset v2.9 FA2H Sarah Leigh Tag Q2_21_rating was removed from gene: FA2H.
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC5 Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC5.
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC4 Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC4.
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC3 Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC3.
Fetal anomalies v2.10 DMPK Arina Puzriakova Tag Q3_21_MOI was removed from gene: DMPK.
Tag Q3_21_rating was removed from gene: DMPK.
Tag Q3_21_expert_review was removed from gene: DMPK.
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC2 Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC2.
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC1 Sarah Leigh Tag Q3_21_rating was removed from gene: ERCC1.
White matter disorders and cerebral calcification - childhood onset v2.9 EPRS Sarah Leigh Tag Q2_21_rating was removed from gene: EPRS.
Fetal anomalies v2.10 CYP11B1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11B1.
Fetal anomalies v2.10 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
White matter disorders and cerebral calcification - childhood onset v2.9 ELOVL1 Sarah Leigh Tag Q4_21_rating was removed from gene: ELOVL1.
Fetal anomalies v2.10 CRYBB3 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CRYBB3.
Fetal anomalies v2.10 COL6A3 Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A3.
White matter disorders and cerebral calcification - childhood onset v2.9 DEGS1 Sarah Leigh Tag Q2_21_rating was removed from gene: DEGS1.
Fetal anomalies v2.10 COL6A1 Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A1.
Fetal anomalies v2.10 COL1A2 Arina Puzriakova Tag Q3_22_MOI was removed from gene: COL1A2.
Tag Q3_22_expert_review was removed from gene: COL1A2.
White matter disorders and cerebral calcification - childhood onset v2.9 DCAF17 Sarah Leigh Tag Q2_21_rating was removed from gene: DCAF17.
Fetal anomalies v2.10 CLPB Arina Puzriakova Tag Q4_21_expert_review was removed from gene: CLPB.
Tag Q4_21_MOI was removed from gene: CLPB.
Fetal anomalies v2.10 CLCN7 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLCN7.
Fetal anomalies v2.10 BHLHA9 Arina Puzriakova Tag Q4_21_MOI was removed from gene: BHLHA9.
Fetal anomalies v2.10 ATAD3A Arina Puzriakova Tag Q3_21_MOI was removed from gene: ATAD3A.
White matter disorders and cerebral calcification - childhood onset v2.9 CSF1R Sarah Leigh Tag Q4_21_MOI was removed from gene: CSF1R.
Fetal anomalies v2.10 AP1S2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: AP1S2.
White matter disorders and cerebral calcification - childhood onset v2.9 COLGALT1 Sarah Leigh Tag Q4_21_rating was removed from gene: COLGALT1.
White matter disorders and cerebral calcification - childhood onset v2.9 COA7 Sarah Leigh Tag Q2_21_rating was removed from gene: COA7.
White matter disorders and cerebral calcification - childhood onset v2.9 CNTNAP1 Sarah Leigh Tag Q2_21_rating was removed from gene: CNTNAP1.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.30 CFHR5 Achchuthan Shanmugasundram commented on gene: CFHR5
White matter disorders and cerebral calcification - childhood onset v2.9 CLPP Sarah Leigh Tag Q3_21_rating was removed from gene: CLPP.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.29 CFHR5 Achchuthan Shanmugasundram Source NHS GMS was added to CFHR5.
Mode of inheritance for gene CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Green List (high evidence) to Red List (low evidence)
White matter disorders and cerebral calcification - childhood onset v2.9 CLDN11 Sarah Leigh Tag Q2_21_rating was removed from gene: CLDN11.
White matter disorders and cerebral calcification - childhood onset v2.9 BOLA3 Sarah Leigh Tag Q2_21_rating was removed from gene: BOLA3.
White matter disorders and cerebral calcification - childhood onset v2.9 AUH Sarah Leigh Tag Q2_21_rating was removed from gene: AUH.
White matter disorders and cerebral calcification - childhood onset v2.9 APOPT1 Sarah Leigh Tag Q2_21_rating was removed from gene: APOPT1.
Cystic kidney disease v3.4 ZNF423 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ZNF423.
Tag Q3_22_expert_review was removed from gene: ZNF423.
White matter disorders and cerebral calcification - childhood onset v2.9 AIFM1 Sarah Leigh Tag Q2_21_rating was removed from gene: AIFM1.
Cystic kidney disease v3.4 ZNF423 Achchuthan Shanmugasundram edited their review of gene: ZNF423: Changed rating: AMBER
Cystic kidney disease v3.4 ZNF423 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.
White matter disorders and cerebral calcification - childhood onset v2.9 ACOX1 Sarah Leigh Tag Q3_21_MOI was removed from gene: ACOX1.
White matter disorders and cerebral calcification - childhood onset v2.9 ACER3 Sarah Leigh Tag Q1_22_rating was removed from gene: ACER3.
White matter disorders and cerebral calcification - childhood onset v2.9 ACBD5 Sarah Leigh Tag Q2_21_rating was removed from gene: ACBD5.
White matter disorders and cerebral calcification - childhood onset v2.9 ABHD16A Sarah Leigh Tag Q4_21_rating was removed from gene: ABHD16A.
White matter disorders and cerebral calcification - childhood onset v2.9 AARS Sarah Leigh Tag Q2_21_rating was removed from gene: AARS.
White matter disorders and cerebral calcification - childhood onset v2.9 MPLKIP Sarah Leigh Tag Q2_21_rating was removed from gene: MPLKIP.
Tag Q2_21_expert_review was removed from gene: MPLKIP.
White matter disorders and cerebral calcification - childhood onset v2.9 GTF2H5 Sarah Leigh Tag Q2_21_rating was removed from gene: GTF2H5.
Tag Q2_21_expert_review was removed from gene: GTF2H5.
White matter disorders and cerebral calcification - childhood onset v2.9 CYP7B1 Sarah Leigh Tag Q3_22_rating was removed from gene: CYP7B1.
Tag Q3_22_expert_review was removed from gene: CYP7B1.
White matter disorders and cerebral calcification - childhood onset v2.9 BLOC1S1 Sarah Leigh Tag Q3_22_rating was removed from gene: BLOC1S1.
Cystic kidney disease v3.4 IFT140 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: IFT140.
Tag Q2_22_NHS_review was removed from gene: IFT140.
Cystic kidney disease v3.4 XPNPEP3 Achchuthan Shanmugasundram Tag Q2_21_expert_review was removed from gene: XPNPEP3.
Tag Q1_22_rating was removed from gene: XPNPEP3.
Tag Q1_22_phenotype was removed from gene: XPNPEP3.
Cystic kidney disease v3.4 PAX2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: PAX2.
Tag Q3_22_NHS_review was removed from gene: PAX2.
Cystic kidney disease v3.4 GLA Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: GLA.
Tag Q3_22_NHS_review was removed from gene: GLA.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova Tag Q3_21_rating was removed from STR: DMPK_CTG.
Tag Q3_21_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber.
Fetal anomalies v2.10 SCUBE3 Arina Puzriakova commented on gene: SCUBE3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Fetal anomalies v2.10 RAB11A Arina Puzriakova commented on gene: RAB11A
Fetal anomalies v2.10 MED12 Arina Puzriakova commented on gene: MED12
Fetal anomalies v2.10 LIFR Arina Puzriakova commented on gene: LIFR
Fetal anomalies v2.10 KIDINS220 Arina Puzriakova commented on gene: KIDINS220: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to Green. However, the mode of inheritance of 'BIALLELIC, autosomal or pseudoautosomal' was approved following NHS Genomic Medicine Service consideration.
Fetal anomalies v2.10 FOXP4 Arina Puzriakova reviewed gene: FOXP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 WNT7B Arina Puzriakova edited their review of gene: WNT7B: Added comment: 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.; Changed rating: GREEN
Fetal anomalies v2.10 WBP11 Arina Puzriakova reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 TMEM70 Arina Puzriakova edited their review of gene: TMEM70: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 TMEM260 Arina Puzriakova reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 TLL1 Arina Puzriakova reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 SYNE1 Arina Puzriakova commented on gene: SYNE1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 SLC20A1 Arina Puzriakova edited their review of gene: SLC20A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 SLC12A6 Arina Puzriakova commented on gene: SLC12A6
Fetal anomalies v2.10 SETD2 Arina Puzriakova edited their review of gene: SETD2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 RAC3 Arina Puzriakova edited their review of gene: RAC3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 PLCB4 Arina Puzriakova reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 PEX6 Arina Puzriakova commented on gene: PEX6
Fetal anomalies v2.10 OTUD5 Arina Puzriakova commented on gene: OTUD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 NDUFB11 Arina Puzriakova edited their review of gene: NDUFB11: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 MYH6 Arina Puzriakova commented on gene: MYH6
Fetal anomalies v2.10 MTM1 Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 MED13L Arina Puzriakova edited their review of gene: MED13L: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 LTBP3 Arina Puzriakova commented on gene: LTBP3
Fetal anomalies v2.10 LARS2 Arina Puzriakova commented on gene: LARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 HSF4 Arina Puzriakova commented on gene: HSF4: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 GRIN1 Arina Puzriakova commented on gene: GRIN1
Fetal anomalies v2.10 FBN2 Arina Puzriakova commented on gene: FBN2
Fetal anomalies v2.10 EHBP1L1 Arina Puzriakova reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 EDNRB Arina Puzriakova commented on gene: EDNRB
Fetal anomalies v2.10 EDA Arina Puzriakova edited their review of gene: EDA: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 DPH1 Arina Puzriakova commented on gene: DPH1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 DMPK Arina Puzriakova edited their review of gene: DMPK: Added comment: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 CYP11B1 Arina Puzriakova commented on gene: CYP11B1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CRYBB3 Arina Puzriakova commented on gene: CRYBB3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL6A3 Arina Puzriakova commented on gene: COL6A3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL6A1 Arina Puzriakova commented on gene: COL6A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL1A2 Arina Puzriakova commented on gene: COL1A2
Fetal anomalies v2.10 CLPB Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CLCN7 Arina Puzriakova commented on gene: CLCN7: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 BHLHA9 Arina Puzriakova commented on gene: BHLHA9
Fetal anomalies v2.10 ATAD3A Arina Puzriakova commented on gene: ATAD3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 AP1S2 Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
White matter disorders and cerebral calcification - childhood onset v2.9 ZFYVE26 Sarah Leigh reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 WARS2 Sarah Leigh reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 VPS11 Sarah Leigh reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 UFM1 Sarah Leigh reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 TUFM Sarah Leigh reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 TMEM63A Sarah Leigh reviewed gene: TMEM63A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 SPG11 Sarah Leigh reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 SPART Sarah Leigh reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 SNORD118 Sarah Leigh edited their review of gene: SNORD118: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
White matter disorders and cerebral calcification - childhood onset v2.9 SDHA Sarah Leigh reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 RPIA Sarah Leigh reviewed gene: RPIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 RNF220 Sarah Leigh reviewed gene: RNF220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 RAB11B Sarah Leigh reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 PTEN Sarah Leigh reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 POLH Sarah Leigh reviewed gene: POLH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 PNPT1 Sarah Leigh reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 PI4KA Sarah Leigh reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 PEX6 Sarah Leigh commented on gene: PEX6: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
White matter disorders and cerebral calcification - childhood onset v2.9 NFU1 Sarah Leigh reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 NAXE Sarah Leigh reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 NAXD Sarah Leigh reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 LIG3 Sarah Leigh reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 KIF5A Sarah Leigh reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 KIAA1161 Sarah Leigh reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ISCA2 Sarah Leigh reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ISCA1 Sarah Leigh reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 HSPD1 Sarah Leigh reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 HIKESHI Sarah Leigh reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 GLRX5 Sarah Leigh reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 GLB1 Sarah Leigh reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 FARSA Sarah Leigh reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 FA2H Sarah Leigh commented on gene: FA2H: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC5 Sarah Leigh reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC4 Sarah Leigh reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC3 Sarah Leigh reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC2 Sarah Leigh reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ERCC1 Sarah Leigh reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 EPRS Sarah Leigh reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ELOVL1 Sarah Leigh reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 DEGS1 Sarah Leigh reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 DCAF17 Sarah Leigh reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 CSF1R Sarah Leigh reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 COLGALT1 Sarah Leigh reviewed gene: COLGALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 COA7 Sarah Leigh commented on gene: COA7: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
White matter disorders and cerebral calcification - childhood onset v2.9 CNTNAP1 Sarah Leigh reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 CLPP Sarah Leigh reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 CLDN11 Sarah Leigh commented on gene: CLDN11: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
White matter disorders and cerebral calcification - childhood onset v2.9 BOLA3 Sarah Leigh reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 AUH Sarah Leigh reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 APOPT1 Sarah Leigh reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 AIFM1 Sarah Leigh reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ACOX1 Sarah Leigh reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ACER3 Sarah Leigh reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ACBD5 Sarah Leigh reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 ABHD16A Sarah Leigh reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 AARS Sarah Leigh reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 MPLKIP Sarah Leigh reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 GTF2H5 Sarah Leigh reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 CYP7B1 Sarah Leigh reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
White matter disorders and cerebral calcification - childhood onset v2.9 BLOC1S1 Sarah Leigh reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.4 ZNF423 Achchuthan Shanmugasundram reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.4 IFT140 Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.4 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.4 PAX2 Achchuthan Shanmugasundram reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.4 GLA Achchuthan Shanmugasundram reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.3 XPNPEP3 Achchuthan Shanmugasundram Source Expert Review Green was added to XPNPEP3.
Source NHS GMS was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v3.3 PAX2 Achchuthan Shanmugasundram Source Expert Review Green was added to PAX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v3.3 IFT140 Achchuthan Shanmugasundram Source Expert Review Green was added to IFT140.
Source NHS GMS was added to IFT140.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v3.3 GLA Achchuthan Shanmugasundram Source Expert Review Green was added to GLA.
Source NHS GMS was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 WNT7B Arina Puzriakova Source Expert Review Green was added to WNT7B.
Source NHS GMS was added to WNT7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 WBP11 Arina Puzriakova Source Expert Review Green was added to WBP11.
Source NHS GMS was added to WBP11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TMEM70 Arina Puzriakova Source Expert Review Green was added to TMEM70.
Source NHS GMS was added to TMEM70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TMEM260 Arina Puzriakova Source Expert Review Green was added to TMEM260.
Source NHS GMS was added to TMEM260.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TLL1 Arina Puzriakova Source Expert Review Green was added to TLL1.
Source NHS GMS was added to TLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SYNE1 Arina Puzriakova Source Expert Review Green was added to SYNE1.
Source NHS GMS was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SLC20A1 Arina Puzriakova Source Expert Review Green was added to SLC20A1.
Source NHS GMS was added to SLC20A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SLC12A6 Arina Puzriakova Source NHS GMS was added to SLC12A6.
Mode of inheritance for gene SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical haemolytic uraemic syndrome v2.17 CFI Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: CFI.
Fetal anomalies v2.9 SETD2 Arina Puzriakova Source Expert Review Green was added to SETD2.
Source NHS GMS was added to SETD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 RAC3 Arina Puzriakova Source Expert Review Green was added to RAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PLD1 Arina Puzriakova Source Expert Review Green was added to PLD1.
Source NHS GMS was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PLCB4 Arina Puzriakova Source Expert Review Green was added to PLCB4.
Source NHS GMS was added to PLCB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 OTUD5 Arina Puzriakova Source Expert Review Green was added to OTUD5.
Source NHS GMS was added to OTUD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 NDUFB11 Arina Puzriakova Source Expert Review Green was added to NDUFB11.
Source NHS GMS was added to NDUFB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 MYH6 Arina Puzriakova Source NHS GMS was added to MYH6.
Mode of inheritance for gene MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 MTM1 Arina Puzriakova Source NHS GMS was added to MTM1.
Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v2.9 MED13L Arina Puzriakova Source Expert Review Green was added to MED13L.
Source NHS GMS was added to MED13L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 LTBP3 Arina Puzriakova Source NHS GMS was added to LTBP3.
Mode of inheritance for gene LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 LARS2 Arina Puzriakova Source Expert Review Green was added to LARS2.
Source NHS GMS was added to LARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 KIDINS220 Arina Puzriakova Source NHS GMS was added to KIDINS220.
Fetal anomalies v2.9 HSF4 Arina Puzriakova Source NHS GMS was added to HSF4.
Mode of inheritance for gene HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 GRIN1 Arina Puzriakova Source NHS GMS was added to GRIN1.
Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v2.9 FBN2 Arina Puzriakova Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 EHBP1L1 Arina Puzriakova Source Expert Review Green was added to EHBP1L1.
Source NHS GMS was added to EHBP1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 EDNRB Arina Puzriakova Source NHS GMS was added to EDNRB.
Mode of inheritance for gene EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 EDA Arina Puzriakova Source Expert Review Red was added to EDA.
Source NHS GMS was added to EDA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v2.9 DPH1 Arina Puzriakova Source Expert Review Green was added to DPH1.
Source NHS GMS was added to DPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 DMPK Arina Puzriakova Source Expert Review Red was added to DMPK.
Source NHS GMS was added to DMPK.
Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v2.9 CYP11B1 Arina Puzriakova Source NHS GMS was added to CYP11B1.
Mode of inheritance for gene CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 CYP11A1 Arina Puzriakova Source NHS GMS was added to CYP11A1.
Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 CRYBB3 Arina Puzriakova Source NHS GMS was added to CRYBB3.
Mode of inheritance for gene CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL6A3 Arina Puzriakova Source NHS GMS was added to COL6A3.
Mode of inheritance for gene COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL6A1 Arina Puzriakova Source NHS GMS was added to COL6A1.
Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL1A2 Arina Puzriakova Source NHS GMS was added to COL1A2.
Mode of inheritance for gene COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v2.9 CLPB Arina Puzriakova Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 CLCN7 Arina Puzriakova Source NHS GMS was added to CLCN7.
Mode of inheritance for gene CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 BHLHA9 Arina Puzriakova Source NHS GMS was added to BHLHA9.
Mode of inheritance for gene BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 ATAD3A Arina Puzriakova Source NHS GMS was added to ATAD3A.
Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 AP1S2 Arina Puzriakova Source NHS GMS was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
White matter disorders and cerebral calcification - childhood onset v2.8 ZFYVE26 Sarah Leigh Source NHS GMS was added to ZFYVE26.
Source Expert Review Green was added to ZFYVE26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 WARS2 Sarah Leigh Source NHS GMS was added to WARS2.
Source Expert Review Green was added to WARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 VPS11 Sarah Leigh Source NHS GMS was added to VPS11.
Source Expert Review Green was added to VPS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 UFM1 Sarah Leigh Source NHS GMS was added to UFM1.
Source Expert Review Green was added to UFM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 TUFM Sarah Leigh Source NHS GMS was added to TUFM.
Source Expert Review Green was added to TUFM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 TMEM63A Sarah Leigh Source NHS GMS was added to TMEM63A.
Source Expert Review Green was added to TMEM63A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 SPG11 Sarah Leigh Source NHS GMS was added to SPG11.
Source Expert Review Green was added to SPG11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 SPART Sarah Leigh Source NHS GMS was added to SPART.
Source Expert Review Green was added to SPART.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 SNORD118 Sarah Leigh Source NHS GMS was added to SNORD118.
Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 SDHA Sarah Leigh Source NHS GMS was added to SDHA.
Source Expert Review Green was added to SDHA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 RPIA Sarah Leigh Source NHS GMS was added to RPIA.
Source Expert Review Green was added to RPIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 RNF220 Sarah Leigh Source NHS GMS was added to RNF220.
Source Expert Review Green was added to RNF220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 RAB11B Sarah Leigh Source NHS GMS was added to RAB11B.
Source Expert Review Green was added to RAB11B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 PTEN Sarah Leigh Source NHS GMS was added to PTEN.
Source Expert Review Green was added to PTEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 POLH Sarah Leigh Source NHS GMS was added to POLH.
Source Expert Review Red was added to POLH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 PNPT1 Sarah Leigh Source NHS GMS was added to PNPT1.
Source Expert Review Green was added to PNPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 PI4KA Sarah Leigh Source NHS GMS was added to PI4KA.
Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 PEX6 Sarah Leigh Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - childhood onset v2.8 NFU1 Sarah Leigh Source NHS GMS was added to NFU1.
Source Expert Review Green was added to NFU1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 NAXE Sarah Leigh Source NHS GMS was added to NAXE.
Source Expert Review Green was added to NAXE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 NAXD Sarah Leigh Source NHS GMS was added to NAXD.
Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 MPLKIP Sarah Leigh Source NHS GMS was added to MPLKIP.
Source Expert Review Red was added to MPLKIP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 LIG3 Sarah Leigh Source NHS GMS was added to LIG3.
Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 KIF5A Sarah Leigh Source NHS GMS was added to KIF5A.
Source Expert Review Green was added to KIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 KIAA1161 Sarah Leigh Source NHS GMS was added to KIAA1161.
Source Expert Review Green was added to KIAA1161.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ISCA2 Sarah Leigh Source NHS GMS was added to ISCA2.
Source Expert Review Green was added to ISCA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ISCA1 Sarah Leigh Source NHS GMS was added to ISCA1.
Source Expert Review Green was added to ISCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 HSPD1 Sarah Leigh Source NHS GMS was added to HSPD1.
Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 HIKESHI Sarah Leigh Source NHS GMS was added to HIKESHI.
Source Expert Review Green was added to HIKESHI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 GTF2H5 Sarah Leigh Source Expert Review Amber was added to GTF2H5.
Source NHS GMS was added to GTF2H5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 GLRX5 Sarah Leigh Source NHS GMS was added to GLRX5.
Source Expert Review Green was added to GLRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 GLB1 Sarah Leigh Source NHS GMS was added to GLB1.
Source Expert Review Green was added to GLB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 FARSA Sarah Leigh Source NHS GMS was added to FARSA.
Source Expert Review Green was added to FARSA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 FA2H Sarah Leigh Source NHS GMS was added to FA2H.
Source Expert Review Green was added to FA2H.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ERCC5 Sarah Leigh Source Expert Review Amber was added to ERCC5.
Source NHS GMS was added to ERCC5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ERCC4 Sarah Leigh Source Expert Review Amber was added to ERCC4.
Source NHS GMS was added to ERCC4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ERCC3 Sarah Leigh Source NHS GMS was added to ERCC3.
Source Expert Review Red was added to ERCC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ERCC2 Sarah Leigh Source Expert Review Amber was added to ERCC2.
Source NHS GMS was added to ERCC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ERCC1 Sarah Leigh Source Expert Review Amber was added to ERCC1.
Source NHS GMS was added to ERCC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 EPRS Sarah Leigh Source NHS GMS was added to EPRS.
Source Expert Review Green was added to EPRS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ELOVL1 Sarah Leigh Source NHS GMS was added to ELOVL1.
Source Expert Review Green was added to ELOVL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 DEGS1 Sarah Leigh Source NHS GMS was added to DEGS1.
Source Expert Review Green was added to DEGS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 DCAF17 Sarah Leigh Source NHS GMS was added to DCAF17.
Source Expert Review Green was added to DCAF17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 CYP7B1 Sarah Leigh Source NHS GMS was added to CYP7B1.
Source Expert Review Green was added to CYP7B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 CSF1R Sarah Leigh Source NHS GMS was added to CSF1R.
Mode of inheritance for gene CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - childhood onset v2.8 COLGALT1 Sarah Leigh Source NHS GMS was added to COLGALT1.
Source Expert Review Green was added to COLGALT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 COA7 Sarah Leigh Source NHS GMS was added to COA7.
Source Expert Review Green was added to COA7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 CNTNAP1 Sarah Leigh Source NHS GMS was added to CNTNAP1.
Source Expert Review Green was added to CNTNAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 CLPP Sarah Leigh Source NHS GMS was added to CLPP.
Source Expert Review Green was added to CLPP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 CLDN11 Sarah Leigh 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)
White matter disorders and cerebral calcification - childhood onset v2.8 BOLA3 Sarah Leigh Source NHS GMS was added to BOLA3.
Source Expert Review Green was added to BOLA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 BLOC1S1 Sarah Leigh Source NHS GMS was added to BLOC1S1.
Source Expert Review Green was added to BLOC1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 AUH Sarah Leigh Source NHS GMS was added to AUH.
Source Expert Review Green was added to AUH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 APOPT1 Sarah Leigh Source NHS GMS was added to APOPT1.
Source Expert Review Green was added to APOPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 AIFM1 Sarah Leigh Source NHS GMS was added to AIFM1.
Source Expert Review Green was added to AIFM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ACOX1 Sarah Leigh Source NHS GMS was added to ACOX1.
Mode of inheritance for gene ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
White matter disorders and cerebral calcification - childhood onset v2.8 ACER3 Sarah Leigh Source NHS GMS was added to ACER3.
Source Expert Review Green was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ACBD5 Sarah Leigh Source NHS GMS was added to ACBD5.
Source Expert Review Green was added to ACBD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 ABHD16A Sarah Leigh Source NHS GMS was added to ABHD16A.
Source Expert Review Green was added to ABHD16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v2.8 AARS Sarah Leigh Source NHS GMS was added to AARS.
Source Expert Review Green was added to AARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Familial hypercholesterolaemia (GMS) v1.12 APOE Arina Puzriakova Tag Q1_22_MOI was removed from gene: APOE.
Familial hypercholesterolaemia (GMS) v1.12 APOE Arina Puzriakova commented on gene: APOE
Familial hypercholesterolaemia (GMS) v1.11 APOE Arina Puzriakova Source NHS GMS was added to APOE.
Mode of inheritance for gene APOE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal ciliopathies v2.4 ZNF423 Sarah Leigh Tag Q3_22_rating was removed from gene: ZNF423.
Tag Q3_22_expert_review was removed from gene: ZNF423.
Renal ciliopathies v2.4 XPNPEP3 Sarah Leigh Tag Q1_22_rating was removed from gene: XPNPEP3.
Renal ciliopathies v2.4 XPNPEP3 Sarah Leigh Source Expert Review Green was added to XPNPEP3.
Source NHS GMS was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v2.17 CFI Achchuthan Shanmugasundram commented on gene: CFI
Atypical haemolytic uraemic syndrome v2.16 CFI Achchuthan Shanmugasundram Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v2.68 SETD5 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: SETD5.
Structural eye disease v2.3 WLS Achchuthan Shanmugasundram Tag Q1_22_NHS_review was removed from gene: WLS.
Tag Q2_22_rating was removed from gene: WLS.
Cerebral vascular malformations v2.68 CNOT3 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: CNOT3.
Structural eye disease v2.3 TMEM5 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: TMEM5.
Tag Q2_22_NHS_review was removed from gene: TMEM5.
Cerebral vascular malformations v2.68 CHD4 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: CHD4.
Renal ciliopathies v2.3 XPNPEP3 Sarah Leigh changed review comment from: The rating of this gene has been updated to XX following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Structural eye disease v2.3 PACS1 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PACS1.
Tag Q2_22_NHS_review was removed from gene: PACS1.
Cerebral vascular malformations v2.68 CBL Eleanor Williams Tag Q3_21_rating was removed from gene: CBL.
Cerebral vascular malformations v2.68 ANGPTL6 Eleanor Williams Tag Q2_21_rating was removed from gene: ANGPTL6.
Cerebral vascular malformations v2.68 ANGPTL6 Eleanor Williams changed review comment from: The rating of this gene has been updated to greenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Structural eye disease v2.3 HHAT Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: HHAT.
Tag Q1_22_NHS_review was removed from gene: HHAT.
Cerebral vascular malformations v2.68 SETD5 Eleanor Williams commented on gene: SETD5: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.68 CNOT3 Eleanor Williams commented on gene: CNOT3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.68 CHD4 Eleanor Williams commented on gene: CHD4: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.68 CBL Eleanor Williams commented on gene: CBL
Cerebral vascular malformations v2.68 ANGPTL6 Eleanor Williams reviewed gene: ANGPTL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cerebral vascular malformations v2.67 ANGPTL6 Eleanor Williams Source Expert Review Green was added to ANGPTL6.
Source NHS GMS was added to ANGPTL6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.3 GJA1 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: GJA1.
Structural eye disease v2.3 CRIM1 Achchuthan Shanmugasundram Tag Q2_21_NHS_review was removed from gene: CRIM1.
Tag Q2_22_rating was removed from gene: CRIM1.
Structural eye disease v2.3 WLS Achchuthan Shanmugasundram reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 TMEM5 Achchuthan Shanmugasundram reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 PACS1 Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 HHAT Achchuthan Shanmugasundram reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 GJA1 Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.3 CRIM1 Achchuthan Shanmugasundram reviewed gene: CRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v2.2 WLS Achchuthan Shanmugasundram Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 TMEM5 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Source NHS GMS was added to PACS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 HHAT Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT.
Source NHS GMS was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v2.2 GJA1 Achchuthan Shanmugasundram Mode of inheritance for gene GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v2.2 CRIM1 Achchuthan Shanmugasundram Source Expert Review Green was added to CRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v2.4 TTC21B Sarah Leigh Tag Q2_22_MOI was removed from gene: TTC21B.
Tag Q2_22_expert_review was removed from gene: TTC21B.
Stickler syndrome v3.3 VCAN Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: VCAN.
Tag Q3_22_NHS_review was removed from gene: VCAN.
Tag Q3_22_expert_review was removed from gene: VCAN.
Stickler syndrome v3.3 BMP4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: BMP4.
Tag Q3_22_NHS_review was removed from gene: BMP4.
Stickler syndrome v3.3 VCAN Achchuthan Shanmugasundram reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Stickler syndrome v3.3 BMP4 Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Stickler syndrome v3.2 VCAN Achchuthan Shanmugasundram Source Expert Review Green was added to VCAN.
Source NHS GMS was added to VCAN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Stickler syndrome v3.2 BMP4 Achchuthan Shanmugasundram Source Expert Review Green was added to BMP4.
Source NHS GMS was added to BMP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v3.26 COL9A3 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A3.
Retinal disorders v3.26 COL9A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A2.
Retinal disorders v3.26 COL9A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A1.
Retinal disorders v3.26 COL11A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL11A1.
Retinal disorders v3.26 IRX6 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: IRX6.
Tag Q3_21_expert_review was removed from gene: IRX6.
Retinal disorders v3.26 IRX6 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. GMS reviewers note that it should not be added as gene for SNV calling, but a region for CNV duplication testing would be appropriate, as per Eleanor Williams comment on PanelApp.
Arthrogryposis v4.5 CNTN1 Eleanor Williams commented on gene: CNTN1
Tubulointerstitial kidney disease v2.4 XPNPEP3 Sarah Leigh commented on gene: XPNPEP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Tubulointerstitial kidney disease v2.4 TTC21B Sarah Leigh commented on gene: TTC21B
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: IRX5.
Tag Q3_21_expert_review was removed from gene: IRX5.
Arthrogryposis v4.5 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Tubulointerstitial kidney disease v2.3 XPNPEP3 Sarah Leigh Source Expert Review Green was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v2.3 TTC21B Sarah Leigh Mode of inheritance for gene TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers wonder whether this could be added as a region instead.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers note that it should not be added as gene for SNV calling, but a region for CNV duplication testing would be appropriate, as per Eleanor Williams comment on PanelApp.
Arthrogryposis v4.5 PEX6 Eleanor Williams Tag Q1_22_MOI was removed from gene: PEX6.
Retinal disorders v3.26 IRX5 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers wonder whether this could be added as a region instead.
Arthrogryposis v4.5 COL6A1 Eleanor Williams Tag Q4_21_MOI was removed from gene: COL6A1.
Arthrogryposis v4.5 ACTA1 Eleanor Williams Tag Q3_21_MOI was removed from gene: ACTA1.
Arthrogryposis v4.5 ADAMTS15 Eleanor Williams Tag Q3_22_rating was removed from gene: ADAMTS15.
Tag Q3_22_MOI was removed from gene: ADAMTS15.
Arthrogryposis v4.5 ADAMTS15 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: 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.
Retinal disorders v3.26 PRPF6 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: PRPF6.
Tag Q3_22_expert_review was removed from gene: PRPF6.
Arthrogryposis v4.5 PEX6 Eleanor Williams commented on gene: PEX6
Arthrogryposis v4.5 COL6A1 Eleanor Williams commented on gene: COL6A1
Arthrogryposis v4.5 ACTA1 Eleanor Williams commented on gene: ACTA1
Arthrogryposis v4.5 ADAMTS15 Eleanor Williams reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v4.4 PEX6 Eleanor Williams Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v4.4 COL6A1 Eleanor Williams Source NHS GMS was added to COL6A1.
Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v4.4 ADAMTS15 Eleanor Williams Source Expert Review Green was added to ADAMTS15.
Source NHS GMS was added to ADAMTS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v4.4 ACTA1 Eleanor Williams Source NHS GMS was added to ACTA1.
Mode of inheritance for gene ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v3.26 STN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: STN1.
Retinal disorders v3.26 SSBP1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1.
Retinal disorders v3.26 RNU4ATAC Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: RNU4ATAC.
Tag Q2_22_NHS_review was removed from gene: RNU4ATAC.
Retinal disorders v3.26 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Retinal disorders v3.26 ARSG Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: ARSG.
Tag Q2_22_NHS_review was removed from gene: ARSG.
Retinal disorders v3.26 AFG3L2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: AFG3L2.
Retinal disorders v3.26 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Retinal disorders v3.26 RGR Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RGR.
Tag Q3_22_NHS_review was removed from gene: RGR.
Retinal disorders v3.26 POMT1 Achchuthan Shanmugasundram Tag Q3_21_NHS_review was removed from gene: POMT1.
Tag Q3_22_rating was removed from gene: POMT1.
Albinism or congenital nystagmus v2.3 SETX Sarah Leigh Tag Q2_22_MOI was removed from gene: SETX.
Thoracic aortic aneurysm or dissection (GMS) v2.3 THSD4 Arina Puzriakova Tag Q2_21_rating was removed from gene: THSD4.
Thoracic aortic aneurysm or dissection (GMS) v2.3 LTBP3 Arina Puzriakova Tag Q1_22_rating was removed from gene: LTBP3.
Thoracic aortic aneurysm or dissection (GMS) v2.3 ARIH1 Arina Puzriakova Tag Q3_21_rating was removed from gene: ARIH1.
Thoracic aortic aneurysm or dissection (GMS) v2.3 IPO8 Arina Puzriakova Tag Q2_21_rating was removed from gene: IPO8.
Thoracic aortic aneurysm or dissection (GMS) v2.3 ASPH Arina Puzriakova Tag Q3_22_rating was removed from gene: ASPH.
Tag Q3_22_MOI was removed from gene: ASPH.
Tag Q3_22_NHS_review was removed from gene: ASPH.
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
Thoracic aortic aneurysm or dissection (GMS) v2.3 THSD4 Arina Puzriakova reviewed gene: THSD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v2.3 LTBP3 Arina Puzriakova reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v2.3 ARIH1 Arina Puzriakova reviewed gene: ARIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v2.3 IPO8 Arina Puzriakova reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v2.3 ASPH Arina Puzriakova reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v2.2 IPO8 Arina Puzriakova Source Expert Review Green was added to IPO8.
Source NHS GMS was added to IPO8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v2.2 ASPH Arina Puzriakova Source Expert Review Green was added to ASPH.
Source NHS GMS was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary lymphoedema v3.2 PIEZO1 Arina Puzriakova Tag Q4_21_MOI was removed from gene: PIEZO1.
Primary lymphoedema v3.2 PIEZO1 Arina Puzriakova commented on gene: PIEZO1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.
Hypertrophic cardiomyopathy v3.3 ALPK3 Arina Puzriakova Tag Q2_22_rating was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v3.3 JPH2 Arina Puzriakova Tag Q3_22_rating was removed from gene: JPH2.
Tag Q3_22_expert_review was removed from gene: JPH2.
Hypertrophic cardiomyopathy v3.3 ALPK3 Arina Puzriakova reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v3.3 JPH2 Arina Puzriakova reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v3.2 ALPK3 Arina Puzriakova Source Expert Review Green was added to ALPK3.
Source NHS GMS was added to ALPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v3.2 JPH2 Arina Puzriakova Source NHS GMS was added to JPH2.
Source Expert Review Amber was added to JPH2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v2.4 TBX5 Arina Puzriakova Tag Q2_21_rating was removed from gene: TBX5.
Dilated and arrhythmogenic cardiomyopathy v2.4 SPEG Arina Puzriakova Tag Q2_21_rating was removed from gene: SPEG.
Dilated and arrhythmogenic cardiomyopathy v2.4 RPL3L Arina Puzriakova Tag Q2_21_rating was removed from gene: RPL3L.
Dilated and arrhythmogenic cardiomyopathy v2.4 NRAP Arina Puzriakova Tag Q2_21_rating was removed from gene: NRAP.
Dilated and arrhythmogenic cardiomyopathy v2.4 MYLK3 Arina Puzriakova Tag Q2_21_rating was removed from gene: MYLK3.
Dilated and arrhythmogenic cardiomyopathy v2.4 FLII Arina Puzriakova Tag Q2_21_rating was removed from gene: FLII.
Renal ciliopathies v2.3 ZNF423 Sarah Leigh reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Renal ciliopathies v2.3 XPNPEP3 Sarah Leigh commented on gene: XPNPEP3: The rating of this gene has been updated to XX following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, adult onset v2.7 PDE10A Eleanor Williams Tag Q2_21_rating was removed from gene: PDE10A.
Tag Q2_21_MOI was removed from gene: PDE10A.
Dystonia, chorea or related movement disorder, adult onset v2.7 PDE10A Eleanor Williams reviewed gene: PDE10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v2.6 PDE10A Eleanor Williams Source Expert Review Red was added to PDE10A.
Mode of inheritance for gene PDE10A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal dysplasia v3.5 HHAT Eleanor Williams Tag Q4_21_rating was removed from gene: HHAT.
Skeletal dysplasia v3.5 HHAT Eleanor Williams changed review comment from: The rating of this gene has been updated to greenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v3.5 AFF3 Eleanor Williams Tag Q2_22_rating was removed from gene: AFF3.
Skeletal dysplasia v3.5 AFF3 Eleanor Williams changed review comment from: The rating of this gene has been updated to greenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v3.5 STT3A Eleanor Williams Tag Q3_22_rating was removed from gene: STT3A.
Tag Q3_22_NHS_review was removed from gene: STT3A.
Skeletal dysplasia v3.5 STT3A Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.