Activity

Date Panel Item Activity
3000 actions
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
Hereditary neuropathy NOT PMP22 copy number v0.6 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/

Hereditary neuropathy NOT PMP22 copy number v0.6 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL
The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

Hereditary neuropathy NOT PMP22 copy number v0.6 ABCA1 Louise Daugherty Classified gene: ABCA1 as Amber List (moderate evidence)
Hereditary neuropathy NOT PMP22 copy number v0.6 ABCA1 Louise Daugherty Gene: abca1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy NOT PMP22 copy number v0.5 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL
The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
Hereditary neuropathy NOT PMP22 copy number v0.5 ABCA1 Louise Daugherty Deleted their comment
Congenital myopathy v1.234 ADSSL1 Louise Daugherty Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5 to Myopathy, distal, 5, 617030
Congenital myopathy v1.233 DOK7 Louise Daugherty Classified gene: DOK7 as Green List (high evidence)
Congenital myopathy v1.233 DOK7 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Red to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81 -some patients have a muscle biopsy and some minicores
Congenital myopathy v1.233 DOK7 Louise Daugherty Gene: dok7 has been classified as Green List (High Evidence).
Congenital myopathy v1.232 DOK7 Louise Daugherty edited their review of gene: DOK7: Changed rating: GREEN
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Green List (high evidence)
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Added comment: Comment on list classification: New Green gene suggested by Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) for R81
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.231 ADSSL1 Louise Daugherty Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Green List (high evidence)
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Green List (High Evidence).
Congenital myopathy v1.229 PYROXD1 Louise Daugherty Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy to Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization
Congenital myopathy v1.228 MYF5 Louise Daugherty Classified gene: MYF5 as Amber List (moderate evidence)
Congenital myopathy v1.228 MYF5 Louise Daugherty Added comment: Comment on list classification: New Amber gene suggested by Anna Sarkozy (Great Ormond Street Hospital)
Congenital myopathy v1.228 MYF5 Louise Daugherty Gene: myf5 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.227 MYF5 Louise Daugherty Publications for gene: MYF5 were set to PMID: 29887215
Congenital myopathy v1.226 FXR1 Louise Daugherty Classified gene: FXR1 as Green List (high evidence)
Congenital myopathy v1.226 FXR1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.226 FXR1 Louise Daugherty Gene: fxr1 has been classified as Green List (High Evidence).
Congenital myopathy v1.225 RYR3 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81; to: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Classified gene: RYR3 as Green List (high evidence)
Congenital myopathy v1.225 RYR3 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Gene: ryr3 has been classified as Green List (High Evidence).
Congenital myopathy v1.224 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Classified gene: CCDC78 as Green List (high evidence)
Congenital myopathy v1.224 CCDC78 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Gene: ccdc78 has been classified as Green List (High Evidence).
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Classified gene: PMVK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.18 MVD Catherine Snow Classified gene: MVD as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.18 MVD Catherine Snow Gene: mvd has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.17 FGFR2 Catherine Snow Classified gene: FGFR2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.17 FGFR2 Catherine Snow Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.16 RHOA Tom Cullup reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 31570889; Phenotypes: Blaschko-linear hypopigmentation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MVD Tom Cullup reviewed gene: MVD: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PMVK Tom Cullup reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR2 Tom Cullup reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 9728990; Phenotypes: Epdermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 CARD14 Tom Cullup reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ILVEN (submitted 2 cases); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYRP1 Tom Cullup reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYR Tom Cullup reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TERT Tom Cullup reviewed gene: TERT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 SPRED1 Tom Cullup reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27423141; Phenotypes: Legius syndrome (611431); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 SMO Tom Cullup reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome (601707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 RASA1 Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24038909, 30635911; Phenotypes: Capillary malformation-arteriovenous malformation syndrome (608354); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PTPN11 Tom Cullup reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: Mosaic case series shortly to be published by Kinsler group; Phenotypes: Noonan syndrome with lentigines (LEOPARD)(151100), Speckled lentiginous naevus syndrome (deletion) and PPV spilorosea (missense activating like Leopard); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PTEN Tom Cullup reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749983, 12471211; Phenotypes: Cowden syndrome (158350), Epidermal naevi, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499344, 22729224, 29446767, 23100325; Phenotypes: PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500), Vascular malformations, Epidermal naevus (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NRAS Tom Cullup reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 24006476, 10878667; Phenotypes: Melanocytic naevi (162900), Congenital melanocytic naevus syndrome, Noonan syndrome (613224); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NOD2 Tom Cullup reviewed gene: NOD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NF1 Tom Cullup reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668375, 14605872; Phenotypes: Neurofibromatosis type I (162200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NDUFB11 Tom Cullup reviewed gene: NDUFB11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MVK Tom Cullup reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: 24781643; Phenotypes: Actinic porokeratosis, porokeratosis of Mibelli (175900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MTOR Tom Cullup reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27159400; Phenotypes: Hypomelanosis of Ito/Blaschko-linear hypopigmentation (Focal cortical dysplasia type II, 607341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MAP3K3 Tom Cullup reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 25728774; Phenotypes: Verrucous haemangiomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MAP2K1 Tom Cullup reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461977; Phenotypes: Arteriovenous malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRT10 Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 29135017, 25495838; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Pachyonychia congenita, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRT1 Tom Cullup reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28532675, 17255957; Phenotypes: Epidermolytic hyperkeratosis, Ichthyosis histrix, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRAS Tom Cullup reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 22683711; Phenotypes: Epidermal naevi, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KITLG Tom Cullup reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive hyper- and hypopigmentation, Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 JAK2 Tom Cullup reviewed gene: JAK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelofibrosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 IDH2 Tom Cullup reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 IDH1 Tom Cullup reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 HRAS Tom Cullup reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 22683711, 24006476; Phenotypes: Epidermal naevi, Schimmelpenning syndrome, Phakomatosis pigmentokeratotica, Woolly hair, Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 HCCS Tom Cullup reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNAS Tom Cullup reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v0.16 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNA14 Tom Cullup reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27476652; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNA11 Tom Cullup reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26778290; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR3 Tom Cullup reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16841094 , 22499344; Phenotypes: Epidermal naevi (162900), Syringocystadenoma papilliferum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR1 Tom Cullup reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 COX7B Tom Cullup reviewed gene: COX7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing v0.16 AKT3 Tom Cullup reviewed gene: AKT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 AKT2 Tom Cullup reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 AKT1 Tom Cullup reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 ACTB Tom Cullup reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28347698; Phenotypes: Becker naevus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.15 TYRP1 Catherine Snow Source Expert Review Removed was added to TYRP1.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TYR Catherine Snow Source Expert Review Removed was added to TYR.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TERT Catherine Snow Source Expert Review Removed was added to TERT.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 SPRED1 Catherine Snow Publications for gene SPRED1 were changed from to 27423141
Mosaic skin disorders - deep sequencing v0.15 SMO Catherine Snow Publications for gene SMO were changed from to 27236920
Mosaic skin disorders - deep sequencing v0.15 RASA1 Catherine Snow Publications for gene RASA1 were changed from to 24038909; 30635911
Mosaic skin disorders - deep sequencing v0.15 PTPN11 Catherine Snow Source Expert Review Amber was added to PTPN11.
Publications for gene PTPN11 were changed from to Mosaic case series shortly to be published by Kinsler group
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.15 PTEN Catherine Snow Publications for gene PTEN were changed from to 10749983; 12471211
Mosaic skin disorders - deep sequencing v0.15 PIK3CA Catherine Snow Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325
Mosaic skin disorders - deep sequencing v0.15 NRAS Catherine Snow Publications for gene NRAS were changed from to 22499344; 10878667; 24006476
Mosaic skin disorders - deep sequencing v0.15 NOD2 Catherine Snow Source Expert Review Removed was added to NOD2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 NF1 Catherine Snow Publications for gene NF1 were changed from to 14605872; 17668375
Mosaic skin disorders - deep sequencing v0.15 NDUFB11 Catherine Snow Source Expert Review Removed was added to NDUFB11.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 MVK Catherine Snow Source Expert Review Removed was added to MVK.
Publications for gene MVK were changed from to 24781643
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 MTOR Catherine Snow Publications for gene MTOR were changed from to 27159400
Mosaic skin disorders - deep sequencing v0.15 MAP3K3 Catherine Snow Publications for gene MAP3K3 were changed from to 25728774
Mosaic skin disorders - deep sequencing v0.15 MAP2K1 Catherine Snow Publications for gene MAP2K1 were changed from to 29461977
Mosaic skin disorders - deep sequencing v0.15 KRT10 Catherine Snow Publications for gene KRT10 were changed from to 29135017; 25495838
Mosaic skin disorders - deep sequencing v0.15 KRT1 Catherine Snow Publications for gene KRT1 were changed from to 28532675; 17255957
Mosaic skin disorders - deep sequencing v0.15 KRAS Catherine Snow Publications for gene KRAS were changed from to 22499344; 22683711
Mosaic skin disorders - deep sequencing v0.15 KITLG Catherine Snow Source Expert Review Removed was added to KITLG.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 JAK2 Catherine Snow Source Expert Review Removed was added to JAK2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 IDH2 Catherine Snow Publications for gene IDH2 were changed from to 22057234
Mosaic skin disorders - deep sequencing v0.15 IDH1 Catherine Snow Publications for gene IDH1 were changed from to 22057234
Mosaic skin disorders - deep sequencing v0.15 HRAS Catherine Snow Publications for gene HRAS were changed from to 22499344; 22683711; 24006476
Mosaic skin disorders - deep sequencing v0.15 HCCS Catherine Snow Source Expert Review Removed was added to HCCS.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 GNAS Catherine Snow Publications for gene GNAS were changed from to 12970318
Mosaic skin disorders - deep sequencing v0.15 GNAQ Catherine Snow Publications for gene GNAQ were changed from to 26778290
Mosaic skin disorders - deep sequencing v0.15 GNA14 Catherine Snow Publications for gene GNA14 were changed from to 27476652
Mosaic skin disorders - deep sequencing v0.15 GNA11 Catherine Snow Publications for gene GNA11 were changed from to 26778290
Mosaic skin disorders - deep sequencing v0.15 FGFR3 Catherine Snow Publications for gene FGFR3 were changed from to 22499344; 16841094
Mosaic skin disorders - deep sequencing v0.15 FGFR1 Catherine Snow Publications for gene FGFR1 were changed from to 26942290
Mosaic skin disorders - deep sequencing v0.15 COX7B Catherine Snow Source Expert Review Removed was added to COX7B.
Mode of inheritance for gene COX7B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT3 Catherine Snow Source Expert Review Removed was added to AKT3.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT2 Catherine Snow Source Expert Review Removed was added to AKT2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT1 Catherine Snow Publications for gene AKT1 were changed from to 21793738
Mosaic skin disorders - deep sequencing v0.15 ACTB Catherine Snow Publications for gene ACTB were changed from to 28347698
Mosaic skin disorders - deep sequencing v0.14 RHOA Catherine Snow gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome
Mosaic skin disorders - deep sequencing v0.14 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were set to Linear porokeratosis
Mosaic skin disorders - deep sequencing v0.14 PMVK Catherine Snow gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis
Mosaic skin disorders - deep sequencing v0.14 FGFR2 Catherine Snow gene: FGFR2 was added
gene: FGFR2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR2 were set to 9728990
Phenotypes for gene: FGFR2 were set to Epdermal naevi
Mosaic skin disorders - deep sequencing v0.14 CARD14 Catherine Snow gene: CARD14 was added
gene: CARD14 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)
Congenital myopathy v1.223 CCDC78 Anna Sarkozy edited their review of gene: CCDC78: Changed rating: GREEN
Congenital myopathy v1.223 CCDC78 Anna Sarkozy changed review comment from: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; to: this can be upgraded to green
Congenital myopathy v1.223 RYR3 Anna Sarkozy reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.223 FXR1 Anna Sarkozy reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30770808; Phenotypes: congenital multi-minicore myopathy.; Mode of inheritance: None
Congenital myopathy v1.223 MYF5 Anna Sarkozy gene: MYF5 was added
gene: MYF5 was added to Congenital myopathy. Sources: Expert list,Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to PMID: 29887215
Phenotypes for gene: MYF5 were set to OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Mode of pathogenicity for gene: MYF5 was set to Other
Review for gene: MYF5 was set to AMBER
Added comment: Sources: Expert list, Literature
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty Deleted their comment
Congenital myopathy v1.223 PYROXD1 Anna Sarkozy reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27745833; Phenotypes: early-onset myopathy with internalized nuclei and myofibrillar disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.223 ADSSL1 Anna Sarkozy gene: ADSSL1 was added
gene: ADSSL1 was added to Congenital myopathy. Sources: Literature,Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5
Penetrance for gene: ADSSL1 were set to unknown
Mode of pathogenicity for gene: ADSSL1 was set to Other
Review for gene: ADSSL1 was set to GREEN
Added comment: Patient muscle samples showed decreased expression of the mutant missense protein and no expression of the truncated protein, which was attributed to increased degradation of the mutant proteins. In vitro studies in cultured mouse muscle cells and zebrafish indicated that the mutations resulted in a loss of function
Sources: Literature, Expert Review
Congenital myopathy v1.223 DOK7 Anna Sarkozy edited their review of gene: DOK7: Added comment: clinical and pathological overlap with CM, minicores on pathology; Changed rating: GREEN
Hereditary neuropathy NOT PMP22 copy number v0.3 Ellen McDonagh Panel status changed from internal to public
Hereditary neuropathy v1.348 Ellen McDonagh List of related panels changed from Charcot-Marie-Tooth disease; R78 to Charcot-Marie-Tooth disease
Panel types changed to Rare Disease 100K
Hereditary neuropathy NOT PMP22 copy number v0.2 Ellen McDonagh List of related panels changed from to R78
Panel types changed to GMS Rare Disease Virtual
Hereditary neuropathy NOT PMP22 copy number v0.1 ZFYVE27 Ellen McDonagh gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ZFYVE27 was set to
Phenotypes for gene: ZFYVE27 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 ZFYVE26 Ellen McDonagh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700
Hereditary neuropathy NOT PMP22 copy number v0.1 XRCC1 Ellen McDonagh gene: XRCC1 was added
gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 29472272; 28002403
Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633
Hereditary neuropathy NOT PMP22 copy number v0.1 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 2168777
Phenotypes for gene: XPA were set to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700
Hereditary neuropathy NOT PMP22 copy number v0.1 XK Ellen McDonagh gene: XK was added
gene: XK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; McLeod syndrome with or without chronic granulomatous disease, 300842
Hereditary neuropathy NOT PMP22 copy number v0.1 WASHC5 Ellen McDonagh gene: WASHC5 was added
gene: WASHC5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: WASHC5 was set to
Publications for gene: WASHC5 were set to 27164712
Phenotypes for gene: WASHC5 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150; Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK
Hereditary neuropathy NOT PMP22 copy number v0.1 VCL Ellen McDonagh gene: VCL was added
gene: VCL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: VCL was set to
Phenotypes for gene: VCL were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa
Hereditary neuropathy NOT PMP22 copy number v0.1 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TTN was set to
Phenotypes for gene: TTN were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TTBK2 Ellen McDonagh gene: TTBK2 was added
gene: TTBK2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TTBK2 was set to
Phenotypes for gene: TTBK2 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 TRPA1 Ellen McDonagh gene: TRPA1 was added
gene: TRPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: TRPA1 was set to
Hereditary neuropathy NOT PMP22 copy number v0.1 TRIM2 Ellen McDonagh gene: TRIM2 was added
gene: TRIM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM2 were set to 25893792; 18687884; 23562820
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490
Hereditary neuropathy NOT PMP22 copy number v0.1 TPM1 Ellen McDonagh gene: TPM1 was added
gene: TPM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TPM1 was set to
Phenotypes for gene: TPM1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TNNT2 Ellen McDonagh gene: TNNT2 was added
gene: TNNT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNT2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TNNI3 Ellen McDonagh gene: TNNI3 was added
gene: TNNI3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNI3 was set to
Phenotypes for gene: TNNI3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TNNC1 Ellen McDonagh gene: TNNC1 was added
gene: TNNC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNC1 was set to
Phenotypes for gene: TNNC1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TMEM43 Ellen McDonagh gene: TMEM43 was added
gene: TMEM43 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TMEM43 was set to
Phenotypes for gene: TMEM43 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TDP1 Ellen McDonagh gene: TDP1 was added
gene: TDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 12244316
Phenotypes for gene: TDP1 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TCAP was set to
Phenotypes for gene: TCAP were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TAZ was set to
Phenotypes for gene: TAZ were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary neuropathy NOT PMP22 copy number v0.1 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 17287286
Phenotypes for gene: SUCLA2 were set to Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Hereditary neuropathy NOT PMP22 copy number v0.1 SPTBN2 Ellen McDonagh gene: SPTBN2 was added
gene: SPTBN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPTBN2 was set to
Publications for gene: SPTBN2 were set to 28333917
Phenotypes for gene: SPTBN2 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
Hereditary neuropathy NOT PMP22 copy number v0.1 SPG21 Ellen McDonagh gene: SPG21 was added
gene: SPG21 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPG21 was set to
Phenotypes for gene: SPG21 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 SPART Ellen McDonagh gene: SPART was added
gene: SPART was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPART was set to
Phenotypes for gene: SPART were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 SOX10 Ellen McDonagh gene: SOX10 was added
gene: SOX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,South West GLH
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 21898658
Phenotypes for gene: SOX10 were set to Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Hereditary neuropathy NOT PMP22 copy number v0.1 SOS1 Ellen McDonagh gene: SOS1 was added
gene: SOS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SOS1 was set to
Phenotypes for gene: SOS1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC5A7 Ellen McDonagh gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC5A7 were set to 23141292; 29782645
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency; dHMN
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 19798730
Phenotypes for gene: SLC25A19 were set to Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SLC1A3 was set to
Phenotypes for gene: SLC1A3 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SIL1 was set to
Phenotypes for gene: SIL1 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SGCD was set to
Phenotypes for gene: SGCD were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 SELENOI Ellen McDonagh gene: SELENOI was added
gene: SELENOI was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENOI were set to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals
Hereditary neuropathy NOT PMP22 copy number v0.1 SCYL1 Ellen McDonagh gene: SCYL1 was added
gene: SCYL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary neuropathy NOT PMP22 copy number v0.1 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
Hereditary neuropathy NOT PMP22 copy number v0.1 SCN5A Ellen McDonagh gene: SCN5A was added
gene: SCN5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SCN5A was set to
Phenotypes for gene: SCN5A were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 SCN10A Ellen McDonagh gene: SCN10A was added
gene: SCN10A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCN10A was set to
Hereditary neuropathy NOT PMP22 copy number v0.1 SCARB2 Ellen McDonagh gene: SCARB2 was added
gene: SCARB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to 19597094; 21670406
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900; Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure)
Hereditary neuropathy NOT PMP22 copy number v0.1 SBF1 Ellen McDonagh gene: SBF1 was added
gene: SBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 28005197; 21210780; 24799518
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284
Hereditary neuropathy NOT PMP22 copy number v0.1 RYR2 Ellen McDonagh gene: RYR2 was added
gene: RYR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RYR2 was set to
Phenotypes for gene: RYR2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 RIT1 Ellen McDonagh gene: RIT1 was added
gene: RIT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RIT1 was set to
Phenotypes for gene: RIT1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 RBM20 Ellen McDonagh gene: RBM20 was added
gene: RBM20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RBM20 was set to
Phenotypes for gene: RBM20 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 RAF1 Ellen McDonagh gene: RAF1 was added
gene: RAF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RAF1 was set to
Phenotypes for gene: RAF1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PTRH2 Ellen McDonagh gene: PTRH2 was added
gene: PTRH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25572476; 25558065
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PTPN11 Ellen McDonagh gene: PTPN11 was added
gene: PTPN11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 25884655; 26952712; 26337637
Phenotypes for gene: PTPN11 were set to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
Hereditary neuropathy NOT PMP22 copy number v0.1 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
Hereditary neuropathy NOT PMP22 copy number v0.1 PRKCG Ellen McDonagh gene: PRKCG was added
gene: PRKCG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 26633542; 29603387
Phenotypes for gene: PRKCG were set to Hereditary Neuropathies; Spinocerebellar ataxia 14, 605361; Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome
Hereditary neuropathy NOT PMP22 copy number v0.1 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PRKAG2 was set to
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
Hereditary neuropathy NOT PMP22 copy number v0.1 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 28459997
Phenotypes for gene: POLR3A were set to Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
Hereditary neuropathy NOT PMP22 copy number v0.1 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 24355708
Phenotypes for gene: PNPLA6 were set to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Hereditary neuropathy NOT PMP22 copy number v0.1 PNKP Ellen McDonagh gene: PNKP was added
gene: PNKP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 30039206
Phenotypes for gene: PNKP were set to Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267
Hereditary neuropathy NOT PMP22 copy number v0.1 PMP2 Ellen McDonagh gene: PMP2 was added
gene: PMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Hereditary neuropathy NOT PMP22 copy number v0.1 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9140401
Phenotypes for gene: PMM2 were set to Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy; Congenital disorder of glycosylation, type Ia, 212065
Hereditary neuropathy NOT PMP22 copy number v0.1 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 PLN Ellen McDonagh gene: PLN was added
gene: PLN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PLN was set to
Phenotypes for gene: PLN were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PKP2 Ellen McDonagh gene: PKP2 was added
gene: PKP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PKP2 was set to
Phenotypes for gene: PKP2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PEX10 was set to
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870; Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described; Peroxisome biogenesis disorder 6B, 614871
Hereditary neuropathy NOT PMP22 copy number v0.1 PDYN Ellen McDonagh gene: PDYN was added
gene: PDYN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDYN were set to 21035104
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PDLIM3 Ellen McDonagh gene: PDLIM3 was added
gene: PDLIM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PDLIM3 was set to
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 PDK3 Ellen McDonagh gene: PDK3 was added
gene: PDK3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDK3 were set to 26801680; 23297365
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
Hereditary neuropathy NOT PMP22 copy number v0.1 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501
Hereditary neuropathy NOT PMP22 copy number v0.1 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Optic atrophy plus syndrome, 125250
Hereditary neuropathy NOT PMP22 copy number v0.1 NRAS Ellen McDonagh gene: NRAS was added
gene: NRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NRAS was set to
Phenotypes for gene: NRAS were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 NIPA1 Ellen McDonagh gene: NIPA1 was added
gene: NIPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 14508710; 15711826; 21419568; 22302102; 15643603
Phenotypes for gene: NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant
Hereditary neuropathy NOT PMP22 copy number v0.1 NEXN Ellen McDonagh gene: NEXN was added
gene: NEXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NEXN was set to
Phenotypes for gene: NEXN were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 NEFH Ellen McDonagh gene: NEFH was added
gene: NEFH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Hereditary neuropathy NOT PMP22 copy number v0.1 NEBL Ellen McDonagh gene: NEBL was added
gene: NEBL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NEBL was set to
Phenotypes for gene: NEBL were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAGLU were set to 25818867
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Hereditary neuropathy NOT PMP22 copy number v0.1 NAGA Ellen McDonagh gene: NAGA was added
gene: NAGA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGA were set to 15136691
Phenotypes for gene: NAGA were set to Kanzaki disease, 609242; Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI
Hereditary neuropathy NOT PMP22 copy number v0.1 MYPN Ellen McDonagh gene: MYPN was added
gene: MYPN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYPN was set to
Phenotypes for gene: MYPN were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MYOZ2 Ellen McDonagh gene: MYOZ2 was added
gene: MYOZ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYOZ2 was set to
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MYL3 Ellen McDonagh gene: MYL3 was added
gene: MYL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYL3 was set to
Phenotypes for gene: MYL3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MYL2 Ellen McDonagh gene: MYL2 was added
gene: MYL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYL2 was set to
Phenotypes for gene: MYL2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYH7 was set to
Phenotypes for gene: MYH7 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MYH6 Ellen McDonagh gene: MYH6 was added
gene: MYH6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYH6 was set to
Phenotypes for gene: MYH6 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MYH14 Ellen McDonagh gene: MYH14 was added
gene: MYH14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH14 were set to 30373780; 21480433; 27875632
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Hereditary neuropathy NOT PMP22 copy number v0.1 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYBPC3 was set to
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: MTTP was set to
Publications for gene: MTTP were set to 2991816
Phenotypes for gene: MTTP were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MT-RNR1 Ellen McDonagh gene: MT-RNR1 was added
gene: MT-RNR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Parkinsonism, deafness, and sensory-motor axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MRE11 was set to
Phenotypes for gene: MRE11 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 20610126
Phenotypes for gene: MMACHC were set to Onset infancy to adulthood; Methylmalonic aciduria and homocystinuria, cblC type, 277400; thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
Hereditary neuropathy NOT PMP22 copy number v0.1 MED25 Ellen McDonagh gene: MED25 was added
gene: MED25 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 19290556
Phenotypes for gene: MED25 were set to Charcot Marie Tooth disease, type 2B2, 605589
Hereditary neuropathy NOT PMP22 copy number v0.1 MCM3AP Ellen McDonagh gene: MCM3AP was added
gene: MCM3AP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary neuropathy NOT PMP22 copy number v0.1 MARS Ellen McDonagh gene: MARS was added
gene: MARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARS were set to 23729695; 29655802
Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary neuropathy NOT PMP22 copy number v0.1 MAP2K2 Ellen McDonagh gene: MAP2K2 was added
gene: MAP2K2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MAP2K2 was set to
Phenotypes for gene: MAP2K2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 MAP2K1 Ellen McDonagh gene: MAP2K1 was added
gene: MAP2K1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to
Phenotypes for gene: MAP2K1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 27669550
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 LDB3 Ellen McDonagh gene: LDB3 was added
gene: LDB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LDB3 was set to
Phenotypes for gene: LDB3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 LAS1L Ellen McDonagh gene: LAS1L was added
gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAS1L were set to 24647030
Hereditary neuropathy NOT PMP22 copy number v0.1 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LAMP2 was set to
Phenotypes for gene: LAMP2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 LAMA4 Ellen McDonagh gene: LAMA4 was added
gene: LAMA4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LAMA4 was set to
Phenotypes for gene: LAMA4 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 L1CAM Ellen McDonagh gene: L1CAM was added
gene: L1CAM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: L1CAM was set to
Phenotypes for gene: L1CAM were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 KRAS Ellen McDonagh gene: KRAS was added
gene: KRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KRAS was set to
Phenotypes for gene: KRAS were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 KLC2 Ellen McDonagh gene: KLC2 was added
gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541
Hereditary neuropathy NOT PMP22 copy number v0.1 KIF1B Ellen McDonagh gene: KIF1B was added
gene: KIF1B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF1B were set to 11389829; 25802885
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210
Hereditary neuropathy NOT PMP22 copy number v0.1 KCNC3 Ellen McDonagh gene: KCNC3 was added
gene: KCNC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KCNC3 was set to
Phenotypes for gene: KCNC3 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 KCNA2 Ellen McDonagh gene: KCNA2 was added
gene: KCNA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA2 were set to 27543892
Phenotypes for gene: KCNA2 were set to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Hereditary neuropathy NOT PMP22 copy number v0.1 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KCNA1 was set to
Phenotypes for gene: KCNA1 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 KARS Ellen McDonagh gene: KARS was added
gene: KARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KARS were set to 25476837; 23768514; 20920668
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth, Intermediate (Dominant).; Charcot Marie Tooth disease, recessive intermediate, B, 613641
Hereditary neuropathy NOT PMP22 copy number v0.1 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: JUP was set to
Phenotypes for gene: JUP were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 JPH2 Ellen McDonagh gene: JPH2 was added
gene: JPH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: JPH2 was set to
Phenotypes for gene: JPH2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 ITPR1 Ellen McDonagh gene: ITPR1 was added
gene: ITPR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ITPR1 was set to
Phenotypes for gene: ITPR1 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933
Phenotypes for gene: IARS2 were set to Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Hereditary neuropathy NOT PMP22 copy number v0.1 HSPB3 Ellen McDonagh gene: HSPB3 was added
gene: HSPB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB3 were set to 27549087; 20142617
Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary neuropathy NOT PMP22 copy number v0.1 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: HRAS was set to
Phenotypes for gene: HRAS were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 HOXD10 Ellen McDonagh gene: HOXD10 was added
gene: HOXD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HOXD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXD10 were set to 15146389
Phenotypes for gene: HOXD10 were set to Charcot Marie Tooth disease, foot deformity of, 192950
Hereditary neuropathy NOT PMP22 copy number v0.1 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000
Hereditary neuropathy NOT PMP22 copy number v0.1 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Hereditary neuropathy NOT PMP22 copy number v0.1 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015
Hereditary neuropathy NOT PMP22 copy number v0.1 GNB4 Ellen McDonagh gene: GNB4 was added
gene: GNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB4 were set to 27908631; 23434117; 28642160
Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185
Hereditary neuropathy NOT PMP22 copy number v0.1 GLE1 Ellen McDonagh gene: GLE1 was added
gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLE1 were set to 18204449
Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
Hereditary neuropathy NOT PMP22 copy number v0.1 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy; Spastic paraplegia 44, autosomal recessive, 613206
Hereditary neuropathy NOT PMP22 copy number v0.1 GBA2 Ellen McDonagh gene: GBA2 was added
gene: GBA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332916
Phenotypes for gene: GBA2 were set to SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Spastic paraplegia 46, autosomal recessive, 614409
Hereditary neuropathy NOT PMP22 copy number v0.1 GATAD1 Ellen McDonagh gene: GATAD1 was added
gene: GATAD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: GATAD1 was set to
Phenotypes for gene: GATAD1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe. Spastic paraplegia, developmental delay, optic atrophy; Krabbe disease, 245200; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
Hereditary neuropathy NOT PMP22 copy number v0.1 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 24627108
Phenotypes for gene: GAA were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: FXN was set to
Phenotypes for gene: FXN were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21070897
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
Hereditary neuropathy NOT PMP22 copy number v0.1 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: FKTN was set to
Phenotypes for gene: FKTN were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 FGF14 Ellen McDonagh gene: FGF14 was added
gene: FGF14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: FGF14 was set to
Phenotypes for gene: FGF14 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 FBXO38 Ellen McDonagh gene: FBXO38 was added
gene: FBXO38 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO38 were set to 24207122
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575
Hereditary neuropathy NOT PMP22 copy number v0.1 FAM126A Ellen McDonagh gene: FAM126A was added
gene: FAM126A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM126A were set to 16951682
Phenotypes for gene: FAM126A were set to Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
Hereditary neuropathy NOT PMP22 copy number v0.1 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700
Hereditary neuropathy NOT PMP22 copy number v0.1 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 22146942
Phenotypes for gene: FA2H were set to SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319
Hereditary neuropathy NOT PMP22 copy number v0.1 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive
Hereditary neuropathy NOT PMP22 copy number v0.1 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400
Hereditary neuropathy NOT PMP22 copy number v0.1 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540
Hereditary neuropathy NOT PMP22 copy number v0.1 ERBB3 Ellen McDonagh gene: ERBB3 was added
gene: ERBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17709104
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598; Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
Hereditary neuropathy NOT PMP22 copy number v0.1 EMD Ellen McDonagh gene: EMD was added
gene: EMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: EMD was set to
Phenotypes for gene: EMD were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DTNA Ellen McDonagh gene: DTNA was added
gene: DTNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DTNA was set to
Phenotypes for gene: DTNA were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DSTYK Ellen McDonagh gene: DSTYK was added
gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750
Hereditary neuropathy NOT PMP22 copy number v0.1 DST Ellen McDonagh gene: DST was added
gene: DST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 30371979; 28468842
Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
Hereditary neuropathy NOT PMP22 copy number v0.1 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DSP was set to
Phenotypes for gene: DSP were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DSG2 Ellen McDonagh gene: DSG2 was added
gene: DSG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DSG2 was set to
Phenotypes for gene: DSG2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DSC2 Ellen McDonagh gene: DSC2 was added
gene: DSC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DSC2 was set to
Phenotypes for gene: DSC2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DRP2 Ellen McDonagh gene: DRP2 was added
gene: DRP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 26227883; 29473052
Hereditary neuropathy NOT PMP22 copy number v0.1 DNAJC3 Ellen McDonagh gene: DNAJC3 was added
gene: DNAJC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 25466870
Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Hereditary neuropathy NOT PMP22 copy number v0.1 DNAJB2 Ellen McDonagh gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 26752306; 25274842
Phenotypes for gene: DNAJB2 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 DMD Ellen McDonagh gene: DMD was added
gene: DMD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DMD was set to
Phenotypes for gene: DMD were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DHTKD1 was set to
Phenotypes for gene: DHTKD1 were set to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750
Hereditary neuropathy NOT PMP22 copy number v0.1 DHH Ellen McDonagh gene: DHH was added
gene: DHH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,UKGTN,South West GLH
Mode of inheritance for gene: DHH was set to
Hereditary neuropathy NOT PMP22 copy number v0.1 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 15883261
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Portal hypertension, noncirrhotic, 617068; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DES Ellen McDonagh gene: DES was added
gene: DES was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: DES was set to
Phenotypes for gene: DES were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 DEGS1 Ellen McDonagh gene: DEGS1 was added
gene: DEGS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition; Leukodystrophy, hypomyelinating, 18, 618404
Hereditary neuropathy NOT PMP22 copy number v0.1 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 24627108; 27025386; 28251916
Phenotypes for gene: DCTN1 were set to Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641
Hereditary neuropathy NOT PMP22 copy number v0.1 DCAF8 Ellen McDonagh gene: DCAF8 was added
gene: DCAF8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCAF8 were set to 24500646
Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100
Hereditary neuropathy NOT PMP22 copy number v0.1 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 28334938
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary neuropathy NOT PMP22 copy number v0.1 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 22878431
Phenotypes for gene: CYP27A1 were set to SNCV described in a minority of patients; Adolescent-onset progressive ataxia, myelopathy and dementia, cataracts, low cholesterol, atherosclerosis, xanthomas, soft palate myoclonus, intractable infantile-onset diarrhoea, cerebral white matter lesions on MRI, sensory to motor axonal neuropathy; Cerebrotendinous xanthomatosis, 213700
Hereditary neuropathy NOT PMP22 copy number v0.1 CTDP1 Ellen McDonagh gene: CTDP1 was added
gene: CTDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTDP1 were set to 16194727; 24690360; 14517542
Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
Hereditary neuropathy NOT PMP22 copy number v0.1 CSRP3 Ellen McDonagh gene: CSRP3 was added
gene: CSRP3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CSRP3 was set to
Phenotypes for gene: CSRP3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 CRYAB Ellen McDonagh gene: CRYAB was added
gene: CRYAB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CRYAB was set to
Phenotypes for gene: CRYAB were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were set to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Hereditary neuropathy NOT PMP22 copy number v0.1 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: COQ8A was set to
Phenotypes for gene: COQ8A were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 COA7 Ellen McDonagh gene: COA7 was added
gene: COA7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 2971817
Phenotypes for gene: COA7 were set to Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Hereditary neuropathy NOT PMP22 copy number v0.1 CNTNAP1 Ellen McDonagh gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
Hereditary neuropathy NOT PMP22 copy number v0.1 CLTCL1 Ellen McDonagh gene: CLTCL1 was added
gene: CLTCL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLTCL1 were set to 26068709
Hereditary neuropathy NOT PMP22 copy number v0.1 CD59 Ellen McDonagh gene: CD59 was added
gene: CD59 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 24382084; 23149847
Phenotypes for gene: CD59 were set to Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
Hereditary neuropathy NOT PMP22 copy number v0.1 CCT5 Ellen McDonagh gene: CCT5 was added
gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 16399879
Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Hereditary neuropathy NOT PMP22 copy number v0.1 CAV3 Ellen McDonagh gene: CAV3 was added
gene: CAV3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CAV3 was set to
Phenotypes for gene: CAV3 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 CASQ2 Ellen McDonagh gene: CASQ2 was added
gene: CASQ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CASQ2 was set to
Phenotypes for gene: CASQ2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: CACNB4 was set to
Phenotypes for gene: CACNB4 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 23857908; 20039086
Phenotypes for gene: C19orf12 were set to SPG43, Childhood onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs; Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298
Hereditary neuropathy NOT PMP22 copy number v0.1 BRAF Ellen McDonagh gene: BRAF was added
gene: BRAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: BRAF was set to
Phenotypes for gene: BRAF were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 18855118; 11180212
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600; Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath; Maple Syrup Urine Disease
Hereditary neuropathy NOT PMP22 copy number v0.1 BAG3 Ellen McDonagh gene: BAG3 was added
gene: BAG3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to 22734908; 28754666
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881
Hereditary neuropathy NOT PMP22 copy number v0.1 B4GALNT1 Ellen McDonagh gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to 23746551
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Spastic paraplegia 26, autosomal recessive, 609195; SPG26
Hereditary neuropathy NOT PMP22 copy number v0.1 ATP1A1 Ellen McDonagh gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ATP1A1 was set to
Publications for gene: ATP1A1 were set to 29499166
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Hereditary neuropathy NOT PMP22 copy number v0.1 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100
Hereditary neuropathy NOT PMP22 copy number v0.1 ARL6IP1 Ellen McDonagh gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 24482476
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 11176957
Phenotypes for gene: APTX were set to Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Hereditary neuropathy NOT PMP22 copy number v0.1 APOA1 Ellen McDonagh gene: APOA1 was added
gene: APOA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to 23730806
Phenotypes for gene: APOA1 were set to Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 AP1S1 Ellen McDonagh gene: AP1S1 was added
gene: AP1S1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary neuropathy NOT PMP22 copy number v0.1 ANKRD1 Ellen McDonagh gene: ANKRD1 was added
gene: ANKRD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ANKRD1 was set to
Phenotypes for gene: ANKRD1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to
Phenotypes for gene: ALDH3A2 were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 AGXT Ellen McDonagh gene: AGXT was added
gene: AGXT was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 25363903; 4701948
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900; Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)
Hereditary neuropathy NOT PMP22 copy number v0.1 AGTPBP1 Ellen McDonagh gene: AGTPBP1 was added
gene: AGTPBP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Hereditary neuropathy NOT PMP22 copy number v0.1 ACTN2 Ellen McDonagh gene: ACTN2 was added
gene: ACTN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ACTN2 was set to
Phenotypes for gene: ACTN2 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 ACTC1 Ellen McDonagh gene: ACTC1 was added
gene: ACTC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ACTC1 was set to
Phenotypes for gene: ACTC1 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 20797687; 29571850
Phenotypes for gene: ABHD12 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy NOT PMP22 copy number v0.1 ABCC9 Ellen McDonagh gene: ABCC9 was added
gene: ABCC9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ABCC9 was set to
Phenotypes for gene: ABCC9 were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Amber,London North GLH,Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 30847374
Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy
Hereditary neuropathy NOT PMP22 copy number v0.1 SYT2 Ellen McDonagh gene: SYT2 was added
gene: SYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Amber,South West GLH
Mode of inheritance for gene: SYT2 was set to
Publications for gene: SYT2 were set to 26519543; 30533528
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic
Hereditary neuropathy NOT PMP22 copy number v0.1 YARS Ellen McDonagh gene: YARS was added
gene: YARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YARS were set to 19561293; 16429158
Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323
Hereditary neuropathy NOT PMP22 copy number v0.1 WNK1 Ellen McDonagh gene: WNK1 was added
gene: WNK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15060842
Phenotypes for gene: WNK1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
Hereditary neuropathy NOT PMP22 copy number v0.1 WARS Ellen McDonagh gene: WARS was added
gene: WARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WARS were set to 28369220
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721
Hereditary neuropathy NOT PMP22 copy number v0.1 VCP Ellen McDonagh gene: VCP was added
gene: VCP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 26574898; 25878907; 25125609
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y
Hereditary neuropathy NOT PMP22 copy number v0.1 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Hereditary neuropathy NOT PMP22 copy number v0.1 TUBB3 Ellen McDonagh gene: TUBB3 was added
gene: TUBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A
Hereditary neuropathy NOT PMP22 copy number v0.1 TTR Ellen McDonagh gene: TTR was added
gene: TTR was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31111153; 31131842; 30878017; 30120737; 31118583
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPV4 were set to 20037586
Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071
Mode of pathogenicity for gene: TRPV4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary neuropathy NOT PMP22 copy number v0.1 TFG Ellen McDonagh gene: TFG was added
gene: TFG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, proximal type, 604484
Hereditary neuropathy NOT PMP22 copy number v0.1 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC2 were set to 20920666
Phenotypes for gene: SPTLC2 were set to Hereditary Sensory and Autonomic Neuropathy, Type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Mode of pathogenicity for gene: SPTLC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary neuropathy NOT PMP22 copy number v0.1 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 20097765; 16216550
Phenotypes for gene: SPTLC1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary neuropathy NOT PMP22 copy number v0.1 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 26556829
Phenotypes for gene: SPG11 were set to Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X
Hereditary neuropathy NOT PMP22 copy number v0.1 SPAST Ellen McDonagh gene: SPAST was added
gene: SPAST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to 28572275
Phenotypes for gene: SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity
Hereditary neuropathy NOT PMP22 copy number v0.1 SMN1 Ellen McDonagh gene: SMN1 was added
gene: SMN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 20206331
Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; dHMN; Brown-Vialetto-Van Laere syndrome 1
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to BVVL; Brown-Vialetto-Van Laere syndrome 2
Hereditary neuropathy NOT PMP22 copy number v0.1 SLC12A6 Ellen McDonagh gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A6 were set to 12368912
Phenotypes for gene: SLC12A6 were set to Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Hereditary neuropathy NOT PMP22 copy number v0.1 SIGMAR1 Ellen McDonagh gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions. PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Hereditary neuropathy NOT PMP22 copy number v0.1 SH3TC2 Ellen McDonagh gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH3TC2 were set to 19805030
Phenotypes for gene: SH3TC2 were set to Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary neuropathy NOT PMP22 copy number v0.1 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SETX were set to PMID: 25025039 - a likely pathogenic variant in SETX reported in a sporadic case with CMT2 and spasticity. Found with a REEP1 variant, and the authors assume digenic pathogenicity.; PMID:25802885 - Identifiy one previously reported variant and three novel variants in 4 families. Report the variants found in CMT patients are likely nonpathogenic due to bioinformatics analysis. Report SETX c.7640T>C is a nonpathogenic rare variant
Hereditary neuropathy NOT PMP22 copy number v0.1 SEPT9 Ellen McDonagh gene: SEPT9 was added
gene: SEPT9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEPT9 were set to 16186812; 19451530
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy
Hereditary neuropathy NOT PMP22 copy number v0.1 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 26392352
Phenotypes for gene: SCN9A were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 SCN11A Ellen McDonagh gene: SCN11A was added
gene: SCN11A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552
Hereditary neuropathy NOT PMP22 copy number v0.1 SBF2 Ellen McDonagh gene: SBF2 was added
gene: SBF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF2 were set to 17855448; 12554688
Phenotypes for gene: SBF2 were set to Charcot Marie Tooth disease, type 4B2, 604563
Hereditary neuropathy NOT PMP22 copy number v0.1 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 RETREG1 Ellen McDonagh gene: RETREG1 was added
gene: RETREG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 30373780; 19838196
Phenotypes for gene: RETREG1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Hereditary neuropathy NOT PMP22 copy number v0.1 REEP1 Ellen McDonagh gene: REEP1 was added
gene: REEP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 19034539; 22703882
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751; Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 RAB7A Ellen McDonagh gene: RAB7A was added
gene: RAB7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 26791407
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, 600882
Hereditary neuropathy NOT PMP22 copy number v0.1 PRX Ellen McDonagh gene: PRX was added
gene: PRX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRX were set to 11157804; 10848494
Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895
Hereditary neuropathy NOT PMP22 copy number v0.1 PRPS1 Ellen McDonagh gene: PRPS1 was added
gene: PRPS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PRPS1 were set to 17701900; 24285972
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070
Hereditary neuropathy NOT PMP22 copy number v0.1 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 24224623
Hereditary neuropathy NOT PMP22 copy number v0.1 PRDM12 Ellen McDonagh gene: PRDM12 was added
gene: PRDM12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII
Hereditary neuropathy NOT PMP22 copy number v0.1 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type)
Hereditary neuropathy NOT PMP22 copy number v0.1 PMP22 Ellen McDonagh gene: PMP22 was added
gene: PMP22 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP22 were set to Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1A, 118220; Neuropathy, inflammatory demyelinating, 139393
Hereditary neuropathy NOT PMP22 copy number v0.1 PLEKHG5 Ellen McDonagh gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 23844677; 17564964
Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Charcot Marie Tooth disease, recessive intermediate C, 615376
Hereditary neuropathy NOT PMP22 copy number v0.1 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Hereditary Neuropathies; Refsum disease
Hereditary neuropathy NOT PMP22 copy number v0.1 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy NOT PMP22 copy number v0.1 NTRK1 Ellen McDonagh gene: NTRK1 was added
gene: NTRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 28940190
Phenotypes for gene: NTRK1 were set to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Hereditary neuropathy NOT PMP22 copy number v0.1 NGF Ellen McDonagh gene: NGF was added
gene: NGF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 14976160; 1317267
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary Sensory and Autonomic Neuropathy, Type V
Hereditary neuropathy NOT PMP22 copy number v0.1 NEFL Ellen McDonagh gene: NEFL was added
gene: NEFL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 10841809; 23618875
Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot Marie Tooth disease, type 1F, 607734; Charcot Marie Tooth disease, type 2E, 607684
Hereditary neuropathy NOT PMP22 copy number v0.1 NDRG1 Ellen McDonagh gene: NDRG1 was added
gene: NDRG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDRG1 were set to 10831399; 28776325
Phenotypes for gene: NDRG1 were set to Charcot Marie Tooth disease, type 4D, 601455
Hereditary neuropathy NOT PMP22 copy number v0.1 MTMR2 Ellen McDonagh gene: MTMR2 was added
gene: MTMR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTMR2 were set to 10802647; 28509084
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382
Hereditary neuropathy NOT PMP22 copy number v0.1 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Hereditary neuropathy NOT PMP22 copy number v0.1 MPZ Ellen McDonagh gene: MPZ was added
gene: MPZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MPZ were set to Neuropathy, congenital hypomyelinating, 605253; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2J, 607736; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677
Hereditary neuropathy NOT PMP22 copy number v0.1 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Hereditary neuropathy NOT PMP22 copy number v0.1 MORC2 Ellen McDonagh gene: MORC2 was added
gene: MORC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Literature,South West GLH
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z
Mode of pathogenicity for gene: MORC2 was set to FALSE
Hereditary neuropathy NOT PMP22 copy number v0.1 MME Ellen McDonagh gene: MME was added
gene: MME was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Other,Expert Review Green
Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MME were set to 26991897; 27588448
Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, 617017
Hereditary neuropathy NOT PMP22 copy number v0.1 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot Marie Tooth disease, type 2A2, 609260; Charcot-Marie-Tooth, Type 2 (Dominant); Hereditary motor and sensory neuropathy VI, 601152; MFN2 axonal neuropathy; Hereditary Motor and Sensory Neuropathy (Recessive)
Hereditary neuropathy NOT PMP22 copy number v0.1 LRSAM1 Ellen McDonagh gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRSAM1 were set to 22781092; 28335037
Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436
Hereditary neuropathy NOT PMP22 copy number v0.1 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 11799477
Phenotypes for gene: LMNA were set to Emery Dreifuss muscular dystrophy 3, AR, 181350; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 2, AD, 181350; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588
Hereditary neuropathy NOT PMP22 copy number v0.1 LITAF Ellen McDonagh gene: LITAF was added
gene: LITAF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LITAF were set to 28211240
Phenotypes for gene: LITAF were set to Charcot Marie Tooth disease, type 1C, 601098
Hereditary neuropathy NOT PMP22 copy number v0.1 KIF5A Ellen McDonagh gene: KIF5A was added
gene: KIF5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; Spastic paraplegia 10, autosomal dominant
Hereditary neuropathy NOT PMP22 copy number v0.1 KIF1A Ellen McDonagh gene: KIF1A was added
gene: KIF1A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary neuropathy NOT PMP22 copy number v0.1 INF2 Ellen McDonagh gene: INF2 was added
gene: INF2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455
Hereditary neuropathy NOT PMP22 copy number v0.1 IGHMBP2 Ellen McDonagh gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 26392352
Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
Hereditary neuropathy NOT PMP22 copy number v0.1 HSPB8 Ellen McDonagh gene: HSPB8 was added
gene: HSPB8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB8 were set to 28780615; 23389032
Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
Hereditary neuropathy NOT PMP22 copy number v0.1 HSPB1 Ellen McDonagh gene: HSPB1 was added
gene: HSPB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB1 were set to 15122254; 28379183
Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; Neuropathy, distal hereditary motor, type IIB, 608634
Hereditary neuropathy NOT PMP22 copy number v0.1 HK1 Ellen McDonagh gene: HK1 was added
gene: HK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700
Hereditary neuropathy NOT PMP22 copy number v0.1 HINT1 Ellen McDonagh gene: HINT1 was added
gene: HINT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy NOT PMP22 copy number v0.1 HARS Ellen McDonagh gene: HARS was added
gene: HARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy NOT PMP22 copy number v0.1 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Cardiomyopathy
Hereditary neuropathy NOT PMP22 copy number v0.1 GJB1 Ellen McDonagh gene: GJB1 was added
gene: GJB1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GJB1 were set to 8266101
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth, X-linked; Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
Hereditary neuropathy NOT PMP22 copy number v0.1 GDAP1 Ellen McDonagh gene: GDAP1 was added
gene: GDAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 2937239; 11743579
Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant)
Hereditary neuropathy NOT PMP22 copy number v0.1 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GARS were set to 29648643
Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary neuropathy NOT PMP22 copy number v0.1 GAN Ellen McDonagh gene: GAN was added
gene: GAN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 1106248
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1
Hereditary neuropathy NOT PMP22 copy number v0.1 FIG4 Ellen McDonagh gene: FIG4 was added
gene: FIG4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665
Phenotypes for gene: FIG4 were set to Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340
Hereditary neuropathy NOT PMP22 copy number v0.1 FGD4 Ellen McDonagh gene: FGD4 was added
gene: FGD4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGD4 were set to 15744041; 17564959
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4
Hereditary neuropathy NOT PMP22 copy number v0.1 FBLN5 Ellen McDonagh gene: FBLN5 was added
gene: FBLN5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy NOT PMP22 copy number v0.1 ELP1 Ellen McDonagh gene: ELP1 was added
gene: ELP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 26392352
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900
Hereditary neuropathy NOT PMP22 copy number v0.1 EGR2 Ellen McDonagh gene: EGR2 was added
gene: EGR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EGR2 were set to 9537424
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth, Type 1; Charcot Marie Tooth disease, type 1D, 607678
Hereditary neuropathy NOT PMP22 copy number v0.1 DYNC1H1 Ellen McDonagh gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 21820100; 26392352
Phenotypes for gene: DYNC1H1 were set to Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228
Hereditary neuropathy NOT PMP22 copy number v0.1 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 21532572
Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy; Neuropathy, hereditary sensory, type IE, 614116
Hereditary neuropathy NOT PMP22 copy number v0.1 DNM2 Ellen McDonagh gene: DNM2 was added
gene: DNM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 15731758
Phenotypes for gene: DNM2 were set to Charcot Marie Tooth disease, dominant intermediate B, 606482; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth, Intermediate
Hereditary neuropathy NOT PMP22 copy number v0.1 COX6A1 Ellen McDonagh gene: COX6A1 was added
gene: COX6A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A1 were set to 26302975; 25152455
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039
Hereditary neuropathy NOT PMP22 copy number v0.1 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 25428574
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048
Hereditary neuropathy NOT PMP22 copy number v0.1 C12orf65 Ellen McDonagh gene: C12orf65 was added
gene: C12orf65 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to 24198383; 28091420
Hereditary neuropathy NOT PMP22 copy number v0.1 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to 26392352
Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VA 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome 270685
Hereditary neuropathy NOT PMP22 copy number v0.1 BICD2 Ellen McDonagh gene: BICD2 was added
gene: BICD2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 23664116
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Hereditary neuropathy NOT PMP22 copy number v0.1 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900
Phenotypes for gene: ATP7A were set to Hereditary Neuropathies
Hereditary neuropathy NOT PMP22 copy number v0.1 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Green,South West GLH
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Hereditary Neuropathies; Ataxia-telangiectasia
Hereditary neuropathy NOT PMP22 copy number v0.1 ATL3 Ellen McDonagh gene: ATL3 was added
gene: ATL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL3 were set to 24459106; 24736309
Hereditary neuropathy NOT PMP22 copy number v0.1 ATL1 Ellen McDonagh gene: ATL1 was added
gene: ATL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 21194679
Phenotypes for gene: ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708
Hereditary neuropathy NOT PMP22 copy number v0.1 ARHGEF10 Ellen McDonagh gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH
Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF10 were set to 14508709
Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236
Hereditary neuropathy NOT PMP22 copy number v0.1 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 3856385
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome
Hereditary neuropathy NOT PMP22 copy number v0.1 ABCA1 Ellen McDonagh gene: ABCA1 was added
gene: ABCA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 29582519
Phenotypes for gene: ABCA1 were set to pain, paresthesias, anaesthesia; Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly; Tangier disease, 205400
Hereditary neuropathy NOT PMP22 copy number v0.1 AARS Ellen McDonagh gene: AARS was added
gene: AARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AARS were set to 20045102; 26032230, 26392352
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; Charcot-Marie-Tooth, Type 2
Hereditary neuropathy NOT PMP22 copy number v0.0 Ellen McDonagh Added Panel Hereditary neuropathy NOT PMP22 copy number
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Classified gene: ABCA1 as Red List (low evidence)
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Added comment: Comment on list classification: Returned back to Red review, based on the decsiosn to create a separate panel for GMS
Hereditary neuropathy v1.347 ABCA1 Louise Daugherty Gene: abca1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.346 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Changed rating: AMBER
Hereditary neuropathy v1.346 AGXT Louise Daugherty Classified gene: AGXT as Red List (low evidence)
Hereditary neuropathy v1.346 AGXT Louise Daugherty Gene: agxt has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.345 AGXT Louise Daugherty Deleted their comment
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Classified gene: AP1S1 as Red List (low evidence)
Hereditary neuropathy v1.345 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.344 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: RED
Hereditary neuropathy v1.344 APOA1 Louise Daugherty Classified gene: APOA1 as Red List (low evidence)
Hereditary neuropathy v1.344 APOA1 Louise Daugherty Gene: apoa1 has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.343 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: RED
Hereditary neuropathy v1.343 APOA1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.343 AGXT Louise Daugherty Classified gene: AGXT as Green List (high evidence)
Hereditary neuropathy v1.343 AGXT Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
Hereditary neuropathy v1.343 AGXT Louise Daugherty Gene: agxt has been classified as Green List (High Evidence).
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
Hereditary neuropathy v1.342 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.341 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: GREEN
Hereditary neuropathy v1.341 APOA1 Louise Daugherty Classified gene: APOA1 as Green List (high evidence)
Hereditary neuropathy v1.341 APOA1 Louise Daugherty Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.340 APOA1 Louise Daugherty commented on gene: APOA1: Changed rating from Red to Green. After discussion within curation team a decision was made to create a new panel specifically for genes that are for isolated neuropathy, and this panel will cover the broader phenotype
Hereditary neuropathy v1.340 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: GREEN
Hereditary neuropathy v1.340 APTX Louise Daugherty Classified gene: APTX as Red List (low evidence)
Hereditary neuropathy v1.340 APTX Louise Daugherty Added comment: Comment on list classification: rating changed due to GMS recommendation
Hereditary neuropathy v1.340 APTX Louise Daugherty Gene: aptx has been classified as Red List (Low Evidence).
Hereditary neuropathy v1.339 APTX Louise Daugherty changed review comment from: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; to: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 APTX Louise Daugherty edited their review of gene: APTX: Added comment: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; Changed rating: RED
Hereditary neuropathy v1.339 APOA1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype: https://www.omim.org/entry/107680#0010 - rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 APOA1 Louise Daugherty edited their review of gene: APOA1: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype: https://www.omim.org/entry/107680#0010 - rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; Changed rating: RED
Hereditary neuropathy v1.339 AP1S1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 AGXT Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 AGTPBP1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.
Hereditary neuropathy v1.339 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red; Changed rating: RED
Hereditary neuropathy v1.339 AGTPBP1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red
Hereditary neuropathy v1.339 AGXT Louise Daugherty edited their review of gene: AGXT: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red; Changed rating: RED
Hereditary neuropathy v1.339 AGTPBP1 Louise Daugherty edited their review of gene: AGTPBP1: Added comment: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID; Changed rating: RED
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green : Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.; to: Comment on list classification: Changed from Red to Green : Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Rare multisystem ciliopathy disorders v1.122 Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Inborn errors of metabolism v1.423 TMEM199 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Inborn errors of metabolism v1.423 TMEM199 Ellen McDonagh Mode of inheritance for gene: TMEM199 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v1.422 UPB1 Ellen McDonagh changed review comment from: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].; to: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443).
Inborn errors of metabolism v1.422 UPB1 Ellen McDonagh commented on gene: UPB1: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].
Inborn errors of metabolism v1.422 ALG2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM.
Inborn errors of metabolism v1.422 ALG2 Ellen McDonagh Mode of inheritance for gene: ALG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v1.422 TMEM199 Ellen McDonagh Classified gene: TMEM199 as Green List (high evidence)
Inborn errors of metabolism v1.422 TMEM199 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330).
Inborn errors of metabolism v1.422 TMEM199 Ellen McDonagh Gene: tmem199 has been classified as Green List (High Evidence).
Inborn errors of metabolism v1.421 ALG2 Ellen McDonagh Classified gene: ALG2 as Amber List (moderate evidence)
Inborn errors of metabolism v1.421 ALG2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to feedback from the GMS Metabolic Specialist disease test group. Information provided: 1 patient described with functional studies carried out: Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an ALG2 mutation (PMID: 12684507).
Inborn errors of metabolism v1.421 ALG2 Ellen McDonagh Gene: alg2 has been classified as Amber List (Moderate Evidence).
Inborn errors of metabolism v1.420 BCAT2 Ellen McDonagh Classified gene: BCAT2 as Green List (high evidence)
Inborn errors of metabolism v1.420 BCAT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to expert review from representation of the GMS Metabolic disease specialist test group; multiple cases reported and this is a treatable.
Inborn errors of metabolism v1.420 BCAT2 Ellen McDonagh Gene: bcat2 has been classified as Green List (High Evidence).
Inborn errors of metabolism v1.419 BCAT2 Ellen McDonagh commented on gene: BCAT2
Inborn errors of metabolism v1.419 BCAT2 Ellen McDonagh Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v1.418 BCAT2 Ellen McDonagh Tag treatable tag was added to gene: BCAT2.
Inborn errors of metabolism v1.418 BCAT2 Ellen McDonagh Publications for gene: BCAT2 were set to 27604308
Inborn errors of metabolism v1.417 UPB1 Ellen McDonagh Classified gene: UPB1 as Green List (high evidence)
Inborn errors of metabolism v1.417 UPB1 Ellen McDonagh Added comment: Comment on list classification: Based on new review by metabolic disease specialist on behalf of the GMS metabolic specialist tets group, and additional publications, this gene has been promoted from Red to Green.
Inborn errors of metabolism v1.417 UPB1 Ellen McDonagh Gene: upb1 has been classified as Green List (High Evidence).
Inborn errors of metabolism v1.416 UPB1 Ellen McDonagh Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402
Inborn errors of metabolism v1.415 UPB1 Ellen McDonagh Publications for gene: UPB1 were set to 27604308
Inborn errors of metabolism v1.414 GLS Ellen McDonagh edited their review of gene: GLS: Changed rating: AMBER
Inborn errors of metabolism v1.414 GLS Ellen McDonagh changed review comment from: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.; to: Comment on phenotypes: This gene now appears in OMIM with a disease due to new publications.
Inborn errors of metabolism v1.414 GLS Ellen McDonagh Added comment: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.
Inborn errors of metabolism v1.414 GLS Ellen McDonagh Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation) to Glucosidase 1 deficiency (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 71 618328; Global developmental delay, progressive ataxia, and elevated glutamine 618412
Inborn errors of metabolism v1.413 GLS Ellen McDonagh Classified gene: GLS as Green List (high evidence)
Inborn errors of metabolism v1.413 GLS Ellen McDonagh Added comment: Comment on list classification: Due to expert review, evidence of 2 unrelated families for loss-of-function variants and further evidence for the role of this gene with an STR reported, this gene has been promoted from Red to Green.
Inborn errors of metabolism v1.413 GLS Ellen McDonagh Gene: gls has been classified as Green List (High Evidence).
Inborn errors of metabolism v1.412 GLS Ellen McDonagh Mode of inheritance for gene: GLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v1.411 GLS Ellen McDonagh Deleted their comment
Inborn errors of metabolism v1.411 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Inborn errors of metabolism v1.411 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Inborn errors of metabolism v1.411 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Inborn errors of metabolism v1.411 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Inborn errors of metabolism v1.410 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30970188 - short tandem repeat (STR) reported in this gene to cause an inborn error of metabolism.
Inborn errors of metabolism v1.410 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Inborn errors of metabolism v1.409 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308
Congenital myopathy v1.223 FHL1 Louise Daugherty Source NHS GMS was added to FHL1.
Congenital myopathy v1.222 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Publications for gene HTRA2 were changed from 27208207; 27696117 to 27208207; 27696117
Congenital myopathy v1.221 LGI4 Louise Daugherty Source NHS GMS was added to LGI4.
Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY
Congenital myopathy v1.220 PAX7 Louise Daugherty Source NHS GMS was added to PAX7.
Congenital myopathy v1.219 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Congenital myopathy v1.218 LMNA Louise Daugherty Source UCL was removed from LMNA.
Source NHS GMS was added to LMNA.
Phenotypes for gene: LMNA were changed from Congenital fiber type disproportion myopathy to Congenital fiber type disproportion myopathy
Hereditary ataxia and cerebellar anomalies - childhood onset v3.435 Ellen McDonagh Changed child panels to: Congenital disorders of glycosylation; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.; to: Comment on list classification: Changed from Red to Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty changed review comment from: Remains Red. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; to: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy v1.339 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Added comment: Remains Red. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Changed rating: RED
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Changed rating: GREEN
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Hereditary neuropathy v1.339 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Unexplained paediatric onset end-stage renal disease v1.0 Eleanor Williams promoted panel to version 1.0
Unexplained paediatric onset end-stage renal disease v0.163 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Nephrocalcinosis or nephrolithiasis v2.0 Eleanor Williams promoted panel to version 2.0
Nephrocalcinosis or nephrolithiasis v1.52 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Congenital muscular dystrophy v1.77 SYNE1 Louise Daugherty Source was removed from SYNE1.
Source NHS GMS was added to SYNE1.
Congenital muscular dystrophy v1.76 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Congenital muscular dystrophy v1.75 LMNA Louise Daugherty Source was removed from LMNA.
Source NHS GMS was added to LMNA.
Proteinuric renal disease v2.0 Eleanor Williams promoted panel to version 2.0
Congenital muscular dystrophy v1.74 DMD Louise Daugherty Source was removed from DMD.
Source NHS GMS was added to DMD.
Proteinuric renal disease v1.227 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Renal tubulopathies v2.0 Eleanor Williams promoted panel to version 2.0
Renal tubulopathies v1.196 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Congenital myopathy v1.217 RYR3 Louise Daugherty Classified gene: RYR3 as Amber List (moderate evidence)
Congenital myopathy v1.217 RYR3 Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.217 RYR3 Louise Daugherty Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.216 RYR3 Louise Daugherty gene: RYR3 was added
gene: RYR3 was added to Congenital myopathy. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR3 were set to 29498452
Phenotypes for gene: RYR3 were set to childhood-onset nemaline myopathy
Review for gene: RYR3 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive missense variants were identified in a patient with childhood-onset nemaline myopathy. Nilipour Y, Nafissi S, Tjust AE, et al. : Ryanodine receptor type 3 ( RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018;25(6):841–7.
Sources: Expert Review, NHS GMS
Congenital muscular dystrophy v1.73 FHL1 Louise Daugherty Source NHS GMS was added to FHL1.
Congenital myopathy v1.215 PPA2 Louise Daugherty Source NHS GMS was added to PPA2.
Congenital myopathy v1.214 TRDN Louise Daugherty Source NHS GMS was added to TRDN.
Congenital myopathy v1.213 FLNC Louise Daugherty Source Expert Review was added to FLNC.
Source NHS GMS was added to FLNC.
Congenital myopathy v1.212 PPA2 Louise Daugherty Classified gene: PPA2 as Amber List (moderate evidence)
Congenital myopathy v1.212 PPA2 Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.212 PPA2 Louise Daugherty Gene: ppa2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.211 PPA2 Louise Daugherty gene: PPA2 was added
gene: PPA2 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222
Review for gene: PPA2 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive variants are associated with sudden cardiac death in infants and young adults. Skeletal muscle from one mildly myopathic infant displayed nemaline bodies Guimier A, Gordon CT, Godard F, et al. : Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. Am J Hum Genet. 2016;99(3):666–73. and
Kennedy H, Haack TB, Hartill V, et al. : Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet. 2016;99(3):674–82.
Sources: Expert Review
Congenital myopathy v1.210 TRDN Louise Daugherty Classified gene: TRDN as Amber List (moderate evidence)
Congenital myopathy v1.210 TRDN Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.210 TRDN Louise Daugherty Gene: trdn has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.209 TRDN Louise Daugherty gene: TRDN was added
gene: TRDN was added to Congenital myopathy. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 25922419; 28202702
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
Review for gene: TRDN was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive frameshift mutations, leading to loss of TRDN, were found to cause a skeletal myopathy in a subset of patients with triadin knockout syndrome.
Altmann HM, Tester DJ, Will ML, et al. : Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015;131(23):2051–60. 10.1161/CIRCULATIONAHA.115.015397
Engel AG, Redhage KR, Tester DJ, et al. : Congenital myopathy associated with the triadin knockout syndrome. Neurology. 2017;88(12):1153–6.
Sources: Expert list
Congenital myopathy v1.208 FLNC Louise Daugherty Classified gene: FLNC as Amber List (moderate evidence)
Congenital myopathy v1.208 FLNC Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Four unrelated patients with cardiomyopathy, arthrogryposis, and a limb-girdle pattern of skeletal muscle weakness at birth or during the first year of life harboured de novo missense variants; three of these patients had p.Ala1186Val.
Kiselev A, Vaz R, Knyazeva A, et al. : De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat. 2018;39(9):1161–72. 10.1002/humu.23559
Congenital myopathy v1.208 FLNC Louise Daugherty Gene: flnc has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.207 FLNC Louise Daugherty Publications for gene: FLNC were set to
Congenital myopathy v1.206 FLNC Louise Daugherty Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy
Congenital myopathy v1.205 FLNC Louise Daugherty Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Classified gene: FHL1 as Green List (high evidence)
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Added comment: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Gene: fhl1 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.71 FHL1 Louise Daugherty gene: FHL1 was added
gene: FHL1 was added to Congenital muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to 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
Review for gene: FHL1 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Congenital myopathy v1.204 FHL1 Louise Daugherty Classified gene: FHL1 as Red List (low evidence)
Congenital myopathy v1.204 FHL1 Louise Daugherty Added comment: Comment on list classification: changed from Green to Red- it was felt this gene was better placed on the CMD panel, R79
Congenital myopathy v1.204 FHL1 Louise Daugherty Gene: fhl1 has been classified as Red List (Low Evidence).
Cardiac arrhythmias v1.7 Ivone Leong Changed child panels to: Brugada syndrome; Long QT syndrome; Short QT syndrome; Catecholaminergic polymorphic VT; Cardiac arrhythmias - additional genes
Cardiac arrhythmias - additional genes v0.2 ANK2 Ivone Leong Classified gene: ANK2 as Green List (high evidence)
Cardiac arrhythmias - additional genes v0.2 ANK2 Ivone Leong Gene: ank2 has been classified as Green List (High Evidence).
Cardiac arrhythmias - additional genes v0.1 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Cardiac arrhythmias - additional genes. Sources: NHS GMS
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANK2 were set to Long QT syndrome 4, 600919; Cardiac arrhythmia, ankyrin-B-related, 600919
Review for gene: ANK2 was set to GREEN
Added comment: Sources: NHS GMS
Cardiac arrhythmias - additional genes v0.0 Ivone Leong Added Panel Cardiac arrhythmias - additional genes
Set panel types to: GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow edited their review of gene: SPINK5: Added comment: Following discussion with the Genomics England clinical team SPINK5 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 FLG2 Catherine Snow edited their review of gene: FLG2: Added comment: Following discussion with the Genomics England clinical team FLG2 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 ATP2C1 Catherine Snow edited their review of gene: ATP2C1: Added comment: Following discussion with the Genomics England clinical team ATP2C1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 DSG1 Catherine Snow edited their review of gene: DSG1: Added comment: Following discussion with the Genomics England clinical team DSG1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 SLC39A4 Catherine Snow edited their review of gene: SLC39A4: Added comment: Following discussion with the Genomics England clinical team SLC39A4 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 IKBKG Catherine Snow edited their review of gene: IKBKG: Added comment: Following discussion with the Genomics England clinical team IKBKG can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 KRT10 Catherine Snow edited their review of gene: KRT10: Added comment: Following discussion with the Genomics England clinical team KRT10 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 KRT1 Catherine Snow edited their review of gene: KRT1: Added comment: Following discussion with the Genomics England clinical team KRT1 can be classified as Green.; Changed rating: GREEN
Progressive cardiac conduction disease v0.45 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow Classified gene: SPINK5 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow Gene: spink5 has been classified as Green List (High Evidence).
Dilated cardiomyopathy - adult and teen v0.60 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Catecholaminergic polymorphic VT v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Short QT syndrome v1.26 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.22 ATP2C1 Catherine Snow Classified gene: ATP2C1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.22 ATP2C1 Catherine Snow Gene: atp2c1 has been classified as Green List (High Evidence).
Brugada syndrome v1.46 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.21 DSG1 Catherine Snow Classified gene: DSG1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.21 DSG1 Catherine Snow Gene: dsg1 has been classified as Green List (High Evidence).
Long QT syndrome v1.46 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.20 SLC39A4 Catherine Snow Classified gene: SLC39A4 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.20 SLC39A4 Catherine Snow Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.19 IKBKG Catherine Snow Classified gene: IKBKG as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.19 IKBKG Catherine Snow Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Gene: krt10 has been classified as Green List (High Evidence).
Arrhythmogenic cardiomyopathy v1.56 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.17 KRT1 Catherine Snow Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.17 KRT1 Catherine Snow Gene: krt1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy - teen and adult v1.92 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Sudden cardiac death v1.2 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS Rare Disease
Cardiac arrhythmias v1.1 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Super Panel
Cardiac arrhythmias v1.0 Ivone Leong Added Panel Cardiac arrhythmias
Set list of related panels to Cardiac arrythmias
Set child panels to: Brugada syndrome; Long QT syndrome; Short QT syndrome; Catecholaminergic polymorphic VT
Set panel types to: GMS Rare Disease Virtual
Sudden cardiac death v1.0 Ivone Leong Added Panel Sudden cardiac death
Set list of related panels to Molecular autopsy; R138
Set child panels to: Hypertrophic cardiomyopathy - teen and adult; Arrhythmogenic cardiomyopathy; Long QT syndrome; Brugada syndrome; Short QT syndrome; Catecholaminergic polymorphic VT; Dilated cardiomyopathy - adult and teen; Progressive cardiac conduction disease
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease
Intellectual disability v2.1135 FA2H Alistair Pagnamenta reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31135052, 20104589; Phenotypes: HSP, ID, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.203 VPS33B Louise Daugherty Classified gene: VPS33B as Red List (low evidence)
Congenital myopathy v1.203 VPS33B Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- do NOT cause neuromuscular forms of arthrgrogryposis
Congenital myopathy v1.203 VPS33B Louise Daugherty Gene: vps33b has been classified as Red List (Low Evidence).
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Classified gene: RYR1 as Red List (low evidence)
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- this should not be on this panel
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Gene: ryr1 has been classified as Red List (Low Evidence).
Congenital myopathy v1.202 FHL1 Louise Daugherty changed review comment from: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off; to: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Congenital myopathy v1.202 FHL1 Louise Daugherty Classified gene: FHL1 as Green List (high evidence)
Congenital myopathy v1.202 FHL1 Louise Daugherty Added comment: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.202 FHL1 Louise Daugherty Gene: fhl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.201 FHL1 Louise Daugherty gene: FHL1 was added
gene: FHL1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to 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
Review for gene: FHL1 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Cardiomyopathies - including childhood onset v0.54 HGSNAT Ivone Leong Publications for gene: HGSNAT were set to 27604308
Congenital myopathy v1.200 HTRA2 Louise Daugherty Classified gene: HTRA2 as Red List (low evidence)
Congenital myopathy v1.200 HTRA2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off - does not cause a form of CM
Congenital myopathy v1.200 HTRA2 Louise Daugherty Gene: htra2 has been classified as Red List (Low Evidence).
Congenital myopathy v1.199 LGI4 Louise Daugherty Classified gene: LGI4 as Red List (low evidence)
Congenital myopathy v1.199 LGI4 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off, gene not for CMY
Congenital myopathy v1.199 LGI4 Louise Daugherty Gene: lgi4 has been classified as Red List (Low Evidence).
Congenital myopathy v1.198 CCDC78 Louise Daugherty commented on gene: CCDC78: Remain Amber unless further evidence supplied by GLH
Congenital myopathy v1.198 DOK7 Louise Daugherty edited their review of gene: DOK7: Added comment: Updated review from Anna Sarkozy as a result of GLH Test Group prior to sign off this is not a CMY gene - rate red; Changed rating: RED
Dilated cardiomyopathy - adult and teen v0.59 FKTN Ivone Leong Publications for gene: FKTN were set to
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Classified gene: ZC4H2 as Red List (low evidence)
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Gene: zc4h2 has been classified as Red List (Low Evidence).
Dilated cardiomyopathy - adult and teen v0.58 FKRP Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Multiple monogenic benign skin tumours v0.14 PMS2 Catherine Snow Phenotypes for gene: PMS2 were changed from to Muir Torre
Multiple monogenic benign skin tumours v0.13 PMS2 Catherine Snow Classified gene: PMS2 as Amber List (moderate evidence)
Multiple monogenic benign skin tumours v0.13 PMS2 Catherine Snow Gene: pms2 has been classified as Amber List (Moderate Evidence).
Multiple monogenic benign skin tumours v0.12 PMS2 Catherine Snow gene: PMS2 was added
gene: PMS2 was added to Multiple monogenic benign skin tumours. Sources: Expert list
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: PMS2 was set to AMBER
Added comment: PMS2 is associated with Muir Torre. Clinical guidance from the Genomics England clinical team advised that as Muir Torre genes have been included on the panel PMS2 should also be added as a Amber gene.
Sources: Expert list
Dilated cardiomyopathy - adult and teen v0.57 TTN Ivone Leong Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.56 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.55 MYH7 Ivone Leong Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.54 LMNA Ivone Leong Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.53 LAMP2 Ivone Leong Phenotypes for gene: LAMP2 were changed from Danon disease (OMIM: 300257) to Danon disease (300257)
Dilated cardiomyopathy - adult and teen v0.52 GATA6 Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 VCL Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TTN Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TNNI3 Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TMEM43 Ivone Leong commented on gene: TMEM43: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated cardiomyopathy - adult and teen v0.52 TCAP Ivone Leong reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 TBX20 Ivone Leong reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 SGCD Ivone Leong reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 RYR2 Ivone Leong edited their review of gene: RYR2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Green to Amber. The group has agreed that this gene should be Amber on this panel. Testing should involve dosage analysis only in this gene.; Changed rating: AMBER
Dilated cardiomyopathy - adult and teen v0.52 RBM20 Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 PRDM16 Ivone Leong reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 PKP2 Ivone Leong commented on gene: PKP2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated cardiomyopathy - adult and teen v0.52 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 NEXN Ivone Leong reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 MYPN Ivone Leong reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 MYBPC3 Ivone Leong reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 LDB3 Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 JUP Ivone Leong commented on gene: JUP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated cardiomyopathy - adult and teen v0.52 GATAD1 Ivone Leong reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 FKTN Ivone Leong reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 FKRP Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 FHOD3 Ivone Leong reviewed gene: FHOD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 EYA4 Ivone Leong reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 EMD Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 DSP Ivone Leong commented on gene: DSP: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated cardiomyopathy - adult and teen v0.52 DSG2 Ivone Leong commented on gene: DSG2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated cardiomyopathy - adult and teen v0.52 DSC2 Ivone Leong commented on gene: DSC2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Dilated cardiomyopathy - adult and teen v0.52 DOLK Ivone Leong reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 DMD Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 DES Ivone Leong edited their review of gene: DES: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Dilated cardiomyopathy - adult and teen v0.52 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 CDH2 Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 BAG3 Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 ANKRD1 Ivone Leong reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.52 ABCC9 Ivone Leong reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated cardiomyopathy - adult and teen v0.51 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Dilated cardiomyopathy - adult and teen v0.51 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 EYA4 Ivone Leong Source Expert Review Red was added to EYA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Dilated cardiomyopathy - adult and teen v0.51 ABCC9 Ivone Leong Source Expert Review Red was added to ABCC9.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Dilated cardiomyopathy - adult and teen v0.51 LAMP2 Ivone Leong Source Expert Review Green was added to LAMP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated cardiomyopathy - adult and teen v0.51 FLNC Ivone Leong Source Expert Review Green was added to FLNC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated cardiomyopathy - adult and teen v0.51 DMD Ivone Leong Source Expert Review Green was added to DMD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated cardiomyopathy - adult and teen v0.51 BAG3 Ivone Leong Source Expert Review Green was added to BAG3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Dilated cardiomyopathy - adult and teen v0.51 ACTC1 Ivone Leong Source Expert Review Green was added to ACTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated cardiomyopathy - adult and teen v0.51 NKX2-5 Ivone Leong gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 EMD Ivone Leong gene: EMD was added
gene: EMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated cardiomyopathy - adult and teen v0.51 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 TNNI3K Ivone Leong gene: TNNI3K was added
gene: TNNI3K was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to
Dilated cardiomyopathy - adult and teen v0.51 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FHOD3 was set to
Dilated cardiomyopathy - adult and teen v0.51 DOLK Ivone Leong gene: DOLK was added
gene: DOLK was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Dilated cardiomyopathy - adult and teen v0.51 CDH2 Ivone Leong gene: CDH2 was added
gene: CDH2 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 TBX20 Ivone Leong gene: TBX20 was added
gene: TBX20 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 PRDM16 Ivone Leong gene: PRDM16 was added
gene: PRDM16 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 MYPN Ivone Leong gene: MYPN was added
gene: MYPN was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated cardiomyopathy - adult and teen v0.51 LDB3 Ivone Leong gene: LDB3 was added
gene: LDB3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 GATAD1 Ivone Leong gene: GATAD1 was added
gene: GATAD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GATAD1 was set to
Dilated cardiomyopathy - adult and teen v0.51 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated cardiomyopathy - adult and teen v0.51 ANKRD1 Ivone Leong gene: ANKRD1 was added
gene: ANKRD1 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v1.70 THSD1 Louise Daugherty commented on gene: THSD1: Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view intracerebral aneurysms. Unclear on penetrance.
Cerebral vascular malformations v1.70 ADA2 Louise Daugherty commented on gene: ADA2: Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view of Neuro tends to present with stroke secondary to vessel occlusion.
Cardiomyopathies - including childhood onset v0.53 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.53 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.53 NDUFB8 Ivone Leong edited their review of gene: NDUFB8: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.53 NDUFA1 Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore promoted it from Red status to Green.; Changed rating: GREEN
Cardiomyopathies - including childhood onset v0.53 MMACHC Ivone Leong edited their review of gene: MMACHC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.52 CACNA1C Ivone Leong gene: CACNA1C was added
gene: CACNA1C was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CACNA1C was set to
Cardiomyopathies - including childhood onset v0.52 MT-TI Ivone Leong gene: MT-TI was added
gene: MT-TI was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Cardiomyopathies - including childhood onset v0.52 NDUFA1 Ivone Leong Source Expert Review Green was added to NDUFA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v0.52 NDUFB8 Ivone Leong Source Expert Review Amber was added to NDUFB8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.52 MMACHC Ivone Leong Source Expert Review Amber was added to MMACHC.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Epidermodysplasia verruciformis v0.12 TMC8 Catherine Snow Added comment: Comment on publications: Publication added which verifies TMC8 as a Green gene
Epidermodysplasia verruciformis v0.12 TMC8 Catherine Snow Publications for gene: TMC8 were set to
Epidermodysplasia verruciformis v0.11 TMC6 Catherine Snow Added comment: Comment on publications: Publication added which verifies TMC6 as a Green gene
Epidermodysplasia verruciformis v0.11 TMC6 Catherine Snow Publications for gene: TMC6 were set to
Epidermodysplasia verruciformis v0.10 CIB1 Catherine Snow Publications for gene: CIB1 were set to
Epidermodysplasia verruciformis v0.9 CIB1 Catherine Snow reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30036492; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.34 KRT83 Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; to: KRT83 is in OMIM with relevant phenotype of Monilethrix, KRT83 is part of a family of genes with KRT86 and KRT81 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.
Ectodermal dysplasia v0.34 KRT83 Catherine Snow edited their review of gene: KRT83: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; Changed phenotypes: Monilethrix, 158000, Erythrokeratodermia variabilis et progressiva, 617756; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.34 KRT81 Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms. KRT81 currently classified as Amber as less than 3 unrelated individuals identified.; to: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms, therefore classifying KRT81 as Amber.
Ectodermal dysplasia v0.34 KRT83 Catherine Snow Mode of inheritance for gene: KRT83 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.33 KRT81 Catherine Snow edited their review of gene: KRT81: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms. KRT81 currently classified as Amber as less than 3 unrelated individuals identified.; Changed publications: 9402962, 9665406; Changed phenotypes: Monilethrix
Cardiomyopathies - including childhood onset v0.51 NAA15 Ivone Leong Mode of inheritance for gene: NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.33 KRT71 Catherine Snow commented on gene: KRT71: No further cases identified in the literature therefore KRT71 will retain Amber rating
Cardiomyopathies - including childhood onset v0.50 GATA6 Ivone Leong Mode of inheritance for gene: GATA6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.49 FKRP Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.33 RSPO4 Catherine Snow Publications for gene: RSPO4 were set to
Ectodermal dysplasia v0.32 RSPO4 Catherine Snow Classified gene: RSPO4 as Green List (high evidence)
Ectodermal dysplasia v0.32 RSPO4 Catherine Snow Gene: rspo4 has been classified as Green List (High Evidence).
Ectodermal dysplasia v0.31 RSPO4 Catherine Snow edited their review of gene: RSPO4: Added comment: RSPO4 is in OMIM and confirmed in Gene2Phenotype and sufficient number of unrelated individuals reported. Phenotype (absence of nails) is a little on the edge of panel but after discussion with clinical team RSPO4 rated as Green.; Changed rating: GREEN; Changed publications: 17914448, 18070203
Ectodermal dysplasia v0.31 KRT25 Catherine Snow edited their review of gene: KRT25: Changed rating: GREEN
Cardiomyopathies - including childhood onset v0.48 ANK2 Ivone Leong Mode of inheritance for gene: ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.91 TSFM Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected.
Hypertrophic cardiomyopathy - teen and adult v1.91 TSFM Ivone Leong Mode of inheritance for gene: TSFM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.47 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Cardiomyopathies - including childhood onset v0.46 TNNI3K Ivone Leong Mode of inheritance for gene: TNNI3K was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.45 TNNI3 Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected.
Cardiomyopathies - including childhood onset v0.45 TNNI3 Ivone Leong Mode of inheritance for gene: TNNI3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.44 TAZ Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected to an X-link MOI.
Cardiomyopathies - including childhood onset v0.44 TAZ Ivone Leong Mode of inheritance for gene: TAZ was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathies - including childhood onset v0.43 SLC25A4 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from biallelic to both monoallelic and biallelic to reflect the evidence in the literature.
Cardiomyopathies - including childhood onset v0.43 SLC25A4 Ivone Leong Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.42 SLC22A5 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from monoallelic to both monoallelic and biallelic to reflect what is in the literature.
Cardiomyopathies - including childhood onset v0.42 SLC22A5 Ivone Leong Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.41 SGCD Ivone Leong Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L to Cardiomyopathy, dilated, 1L, 606685
Cardiomyopathies - including childhood onset v0.40 SGCD Ivone Leong Publications for gene: SGCD were set to
DEMO Diabetes neonatal onset v1.1 ABCC8 Ellen McDonagh Classified gene: ABCC8 as Amber List (moderate evidence)
DEMO Diabetes neonatal onset v1.1 ABCC8 Ellen McDonagh Gene: abcc8 has been classified as Amber List (Moderate Evidence).
DEMO Diabetes neonatal onset v1.0 Ellen McDonagh promoted panel to version 1.0
DEMO Diabetes neonatal onset v0.14 G6PD Ellen McDonagh Classified gene: G6PD as Green List (high evidence)
DEMO Diabetes neonatal onset v0.14 G6PD Ellen McDonagh Gene: g6pd has been classified as Green List (High Evidence).
DEMO Diabetes neonatal onset v0.13 G6PD Ellen McDonagh gene: G6PD was added
gene: G6PD was added to DEMO Diabetes neonatal onset. Sources: Literature
treatable tags were added to gene: G6PD.
Mode of inheritance for gene: G6PD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: G6PD were set to 1234568
Phenotypes for gene: G6PD were set to hemolytic anaemia
Review for gene: G6PD was set to GREEN
gene: G6PD was marked as current diagnostic
Added comment: There is a high level of evidence for this gene to be on this panel.
Sources: Literature
DEMO Diabetes neonatal onset v0.12 IL2RA Ellen McDonagh Marked gene: IL2RA as ready
DEMO Diabetes neonatal onset v0.12 IL2RA Ellen McDonagh Added comment: Comment when marking as ready: Reviewed and confirmed information
DEMO Diabetes neonatal onset v0.12 IL2RA Ellen McDonagh Gene: il2ra has been classified as Red List (Low Evidence).
DEMO Diabetes neonatal onset v0.12 IL2RA Ellen McDonagh Phenotypes for gene: IL2RA were changed from Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; IPEX-like syndrome; insulin-dependent diabetes mellitus at 8-weeks; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; neonatal diabetes to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; IPEX-like syndrome; insulin-dependent diabetes mellitus at 8-weeks; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; neonatal diabetes
DEMO Diabetes neonatal onset v0.11 IL2RA Ellen McDonagh Publications for gene: IL2RA were set to 17196245; 12345; 678926
DEMO Diabetes neonatal onset v0.10 IL2RA Ellen McDonagh Added comment: Comment on mode of pathogenicity: Gain of function
DEMO Diabetes neonatal onset v0.10 IL2RA Ellen McDonagh Mode of pathogenicity for gene: IL2RA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
DEMO Diabetes neonatal onset v0.9 IL2RA Ellen McDonagh Mode of inheritance for gene: IL2RA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DEMO Diabetes neonatal onset v0.8 IL2RA Ellen McDonagh Classified gene: IL2RA as Red List (low evidence)
DEMO Diabetes neonatal onset v0.8 IL2RA Ellen McDonagh Added comment: Comment on list classification: This gene-disease association has been refuted.
DEMO Diabetes neonatal onset v0.8 IL2RA Ellen McDonagh Gene: il2ra has been classified as Red List (Low Evidence).
DEMO Diabetes neonatal onset v0.7 IL2RA Ellen McDonagh Publications for gene: IL2RA were set to 17196245
Proteinuric renal disease v1.226 FAT1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to green. Despite concerns about possible variants in other genes in some pedigrees, and lower renal phenotype penetrance in others, it was considered that there is sufficient pedigrees and strong enough functional data to rate this gene green.; to: Comment on list classification: Changing rating from red to green. Despite concerns about possible variants in other genes in some pedigrees, and lower renal phenotype penetrance in others, it was considered that there are sufficient pedigrees and strong enough functional data to rate this gene green.
Proteinuric renal disease v1.226 CLCN5 Eleanor Williams commented on gene: CLCN5: Changed Mode of inheritance to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) because PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease
Intellectual disability v2.1135 SLC5A6 Konstantinos Varvagiannis changed review comment from: SLC5A6 encodes the sodium dependent multivitamin transporter (SMVT), a transporter of biotin, pantothenate and lipoate. The transporter has a major role in vitamin uptake in the digestive system (among others is the sole transporter for intestinal uptake of biotin which is not synthesized and but must be obtained from exogenous sources) as well as transport across the blood-brain barrier (SMVT being responsible for 89% of biotin transport) [several refs provided by Subramanian et al and Byrne et al].

4 affected individuals from 3 families have been reported.

Subramanian et al (2017 - PMID: 27904971) et al reported on a girl with feeding difficulties and failure to thrive (requiring nasogastric tube placement), microcephaly, DD (at 15m developmental age corresponding to 6m with features suggestive of spastic cerebral palsy), occurrence of multiple infections, osteoporosis and pathologic bone fractures. MRIs suggested brain atrophy, thin CC and hypoplasia of the pons. Metabolic (AA, OA) investigations and array-CGH were normal. Whole exome sequencing revealed presence of a missense (Arg123Leu - RefSeq not provided) and a nonsense (Arg94Ter) SLC5A6 variant. Serum biotin was normal although - at the time - the child was on parenteral and G-T nutrition. Following administration of biotin, pantothenic acid and lipoic acid the child demonstrated among others improved motor and verbal skills, head growth and normalization of immunoglobulin levels. Transfection of mutants in human derived intestinal HuTu-80 cells and brain U87 cells was carried out and a 3H-biotin assay showed no induction in biotin uptake confirming impaired functionality of the transporter. While wt protein displayed normal expression/membrane localization, Arg94Ter was poorly expressed with ectopic localization (cytoplasm). Arg123Leu was retained predominantly intracellularly, probably in the ER as was further supported by colocalization with DsRed-ER. Evidence from the literature is provided that deficiencies of the specific vitamins explain the clinical features (DD, microcephaly, immunological defect, osteopenia, etc).

Schwantje et al (2019 - PMID: 31392107) described a girl with severe feeding problems, vomiting with blood (suspected Mallory-Weiss syndrome), poor weight gain and delayed gross motor development. The child presented an episode of gastroenteritis associated with reduced consciousness, circulatory insufficiency and metabolic derangement (hypoglycemia, severe metabolic acidosis, hyperammonemia, mild lactate elevation, ketonuria). Investigations some months prior to the admission (?) were suggestive of a metabolic disorder due to elevated plasma C3-carnitine, C5-OH-carnitine and elevated urinary excretion of 3-OH-isovaleric acid (biotinidase deficiency was considered in the DD but enzymatic activity was only marginally decreased). Biotin supplementation was initiated. Trio-exome sequencing (at 3yrs) demonstrated compound heterozygosity for 2 frameshift variants [NM_021095.2:c.422_423del / p.(Val141Alafs*34) and c.1865_1866del]. Following this result, increase of biotin supplementation and introduction of pantothenic acid, GI symptoms (incl. chronic diarrhea) resolved and the child displayed improved appetite and growth, yet a stable motor delay. The authors cite previous studies of conditional ko mice, displaying intestinal mucosal abnormalities and growth defects (similar to the child's problems), prevented by biotin and pantothenic acid supplementation.

Byrne et al (2019 - PMID: 31754459) reported on a sibling pair with severe motor/speech developmental regression following a plateau (at 12m and 14m), development of ataxia and dyskinetic movements (both), seizures (one). Feeding difficulties, reflux and failure to thrive required N-G/gastrostomy feeding while both presented GI hemorrhage (in the case of the older sib, lethal). Other features in the youngest sib included brain MRI abnormalities (cerebral/cerebellar atrophy, thin CC, etc) and IgG deficiency. Biochemical, single-gene testing and mtDNA sequencing were not diagnostic. Exome in one, revealed presence of a frameshift [c.422_423del as above] and a missense variant (Arg400Thr). Sanger sequencing confirmed variants in both sibs and heterozygosity in parents. HeLa cells transfected with empty vector, wt or mut expression constructs confirmed significantly decreased 3H-biotin uptake for mut constructs compared to wt (and similar to empty vector). Parenteral triple vitamin replacement at the age of ~7 years resulted in improved overall condition, regain of some milestones, attenuation of vomiting, and resolution of peripheral neuropathy. Seizure were well-controlled (as was the case before treatment) despite persistence of epileptiform discharges. Again the authors cite studies of conditional (intestine-specific) SLC5A6 ko mice, with those viable (~1/3) demonstrating growth retardation, decreased boned density and GI abnormalities (similar to affected individuals). The phenotype could be rescued by oversupplementation of biotin and pantothenic acid (PMIDs cited: 23104561, 29669219).

[Please consider inclusion in other relevant panels eg. metabolic disorders]
Sources: Literature; to: SLC5A6 encodes the sodium dependent multivitamin transporter (SMVT), a transporter of biotin, pantothenate and lipoate. The transporter has a major role in vitamin uptake in the digestive system (among others is the sole transporter for intestinal uptake of biotin which is not synthesized but must be obtained from exogenous sources) as well as transport across the blood-brain barrier (SMVT being responsible for 89% of biotin transport) [several refs provided by Subramanian et al and Byrne et al].

4 affected individuals from 3 families have been reported.

Subramanian et al (2017 - PMID: 27904971) et al reported on a girl with feeding difficulties and failure to thrive (requiring nasogastric tube placement), microcephaly, DD (at 15m developmental age corresponding to 6m with features suggestive of spastic cerebral palsy), occurrence of multiple infections, osteoporosis and pathologic bone fractures. MRIs suggested brain atrophy, thin CC and hypoplasia of the pons. Metabolic (AA, OA) investigations and array-CGH were normal. Whole exome sequencing revealed presence of a missense (Arg123Leu - RefSeq not provided) and a nonsense (Arg94Ter) SLC5A6 variant. Serum biotin was normal although - at the time - the child was on parenteral and G-T nutrition. Following administration of biotin, pantothenic acid and lipoic acid the child demonstrated among others improved motor and verbal skills, head growth and normalization of immunoglobulin levels. Transfection of mutants in human derived intestinal HuTu-80 cells and brain U87 cells was carried out and a 3H-biotin assay showed no induction in biotin uptake confirming impaired functionality of the transporter. While wt protein displayed normal expression/membrane localization, Arg94Ter was poorly expressed with ectopic localization (cytoplasm). Arg123Leu was retained predominantly intracellularly, probably in the ER as was further supported by colocalization with DsRed-ER. Evidence from the literature is provided that deficiencies of the specific vitamins explain the clinical features (DD, microcephaly, immunological defect, osteopenia, etc).

Schwantje et al (2019 - PMID: 31392107) described a girl with severe feeding problems, vomiting with blood (suspected Mallory-Weiss syndrome), poor weight gain and delayed gross motor development. The child presented an episode of gastroenteritis associated with reduced consciousness, circulatory insufficiency and metabolic derangement (hypoglycemia, severe metabolic acidosis, hyperammonemia, mild lactate elevation, ketonuria). Investigations some months prior to the admission (?) were suggestive of a metabolic disorder due to elevated plasma C3-carnitine, C5-OH-carnitine and elevated urinary excretion of 3-OH-isovaleric acid (biotinidase deficiency was considered in the DD but enzymatic activity was only marginally decreased). Biotin supplementation was initiated. Trio-exome sequencing (at 3yrs) demonstrated compound heterozygosity for 2 frameshift variants [NM_021095.2:c.422_423del / p.(Val141Alafs*34) and c.1865_1866del]. Following this result, increase of biotin supplementation and introduction of pantothenic acid, GI symptoms (incl. chronic diarrhea) resolved and the child displayed improved appetite and growth, yet a stable motor delay. The authors cite previous studies of conditional ko mice, displaying intestinal mucosal abnormalities and growth defects (similar to the child's problems), prevented by biotin and pantothenic acid supplementation.

Byrne et al (2019 - PMID: 31754459) reported on a sibling pair with severe motor/speech developmental regression following a plateau (at 12m and 14m), development of ataxia and dyskinetic movements (both), seizures (one). Feeding difficulties, reflux and failure to thrive required N-G/gastrostomy feeding while both presented GI hemorrhage (in the case of the older sib, lethal). Other features in the youngest sib included brain MRI abnormalities (cerebral/cerebellar atrophy, thin CC, etc) and IgG deficiency. Biochemical, single-gene testing and mtDNA sequencing were not diagnostic. Exome in one, revealed presence of a frameshift [c.422_423del as above] and a missense variant (Arg400Thr). Sanger sequencing confirmed variants in both sibs and heterozygosity in parents. HeLa cells transfected with empty vector, wt or mut expression constructs confirmed significantly decreased 3H-biotin uptake for mut constructs compared to wt (and similar to empty vector). Parenteral triple vitamin replacement at the age of ~7 years resulted in improved overall condition, regain of some milestones, attenuation of vomiting, and resolution of peripheral neuropathy. Seizure were well-controlled (as was the case before treatment) despite persistence of epileptiform discharges. Again the authors cite studies of conditional (intestine-specific) SLC5A6 ko mice, with those viable (~1/3) demonstrating growth retardation, decreased boned density and GI abnormalities (similar to affected individuals). The phenotype could be rescued by oversupplementation of biotin and pantothenic acid (PMIDs cited: 23104561, 29669219).

[Please consider inclusion in other relevant panels eg. metabolic disorders]
Sources: Literature
Intellectual disability v2.1135 SLC5A6 Konstantinos Varvagiannis gene: SLC5A6 was added
gene: SLC5A6 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 27904971; 31392107; 31754459; 23104561; 29669219
Phenotypes for gene: SLC5A6 were set to Feeding difficulties; Failure to thrive; Global developmental delay; Developmental regression; Intellectual disability; Seizures; Microcephaly; Cerebral atrophy; Abnormality of the corpus callosum; Vomiting; Chronic diarrhea; Gastrointestinal hemorrhage; Abnormal immunoglobulin level; Osteopenia; Abnormality of metabolism/homeostasis
Penetrance for gene: SLC5A6 were set to Complete
Review for gene: SLC5A6 was set to GREEN
Added comment: SLC5A6 encodes the sodium dependent multivitamin transporter (SMVT), a transporter of biotin, pantothenate and lipoate. The transporter has a major role in vitamin uptake in the digestive system (among others is the sole transporter for intestinal uptake of biotin which is not synthesized and but must be obtained from exogenous sources) as well as transport across the blood-brain barrier (SMVT being responsible for 89% of biotin transport) [several refs provided by Subramanian et al and Byrne et al].

4 affected individuals from 3 families have been reported.

Subramanian et al (2017 - PMID: 27904971) et al reported on a girl with feeding difficulties and failure to thrive (requiring nasogastric tube placement), microcephaly, DD (at 15m developmental age corresponding to 6m with features suggestive of spastic cerebral palsy), occurrence of multiple infections, osteoporosis and pathologic bone fractures. MRIs suggested brain atrophy, thin CC and hypoplasia of the pons. Metabolic (AA, OA) investigations and array-CGH were normal. Whole exome sequencing revealed presence of a missense (Arg123Leu - RefSeq not provided) and a nonsense (Arg94Ter) SLC5A6 variant. Serum biotin was normal although - at the time - the child was on parenteral and G-T nutrition. Following administration of biotin, pantothenic acid and lipoic acid the child demonstrated among others improved motor and verbal skills, head growth and normalization of immunoglobulin levels. Transfection of mutants in human derived intestinal HuTu-80 cells and brain U87 cells was carried out and a 3H-biotin assay showed no induction in biotin uptake confirming impaired functionality of the transporter. While wt protein displayed normal expression/membrane localization, Arg94Ter was poorly expressed with ectopic localization (cytoplasm). Arg123Leu was retained predominantly intracellularly, probably in the ER as was further supported by colocalization with DsRed-ER. Evidence from the literature is provided that deficiencies of the specific vitamins explain the clinical features (DD, microcephaly, immunological defect, osteopenia, etc).

Schwantje et al (2019 - PMID: 31392107) described a girl with severe feeding problems, vomiting with blood (suspected Mallory-Weiss syndrome), poor weight gain and delayed gross motor development. The child presented an episode of gastroenteritis associated with reduced consciousness, circulatory insufficiency and metabolic derangement (hypoglycemia, severe metabolic acidosis, hyperammonemia, mild lactate elevation, ketonuria). Investigations some months prior to the admission (?) were suggestive of a metabolic disorder due to elevated plasma C3-carnitine, C5-OH-carnitine and elevated urinary excretion of 3-OH-isovaleric acid (biotinidase deficiency was considered in the DD but enzymatic activity was only marginally decreased). Biotin supplementation was initiated. Trio-exome sequencing (at 3yrs) demonstrated compound heterozygosity for 2 frameshift variants [NM_021095.2:c.422_423del / p.(Val141Alafs*34) and c.1865_1866del]. Following this result, increase of biotin supplementation and introduction of pantothenic acid, GI symptoms (incl. chronic diarrhea) resolved and the child displayed improved appetite and growth, yet a stable motor delay. The authors cite previous studies of conditional ko mice, displaying intestinal mucosal abnormalities and growth defects (similar to the child's problems), prevented by biotin and pantothenic acid supplementation.

Byrne et al (2019 - PMID: 31754459) reported on a sibling pair with severe motor/speech developmental regression following a plateau (at 12m and 14m), development of ataxia and dyskinetic movements (both), seizures (one). Feeding difficulties, reflux and failure to thrive required N-G/gastrostomy feeding while both presented GI hemorrhage (in the case of the older sib, lethal). Other features in the youngest sib included brain MRI abnormalities (cerebral/cerebellar atrophy, thin CC, etc) and IgG deficiency. Biochemical, single-gene testing and mtDNA sequencing were not diagnostic. Exome in one, revealed presence of a frameshift [c.422_423del as above] and a missense variant (Arg400Thr). Sanger sequencing confirmed variants in both sibs and heterozygosity in parents. HeLa cells transfected with empty vector, wt or mut expression constructs confirmed significantly decreased 3H-biotin uptake for mut constructs compared to wt (and similar to empty vector). Parenteral triple vitamin replacement at the age of ~7 years resulted in improved overall condition, regain of some milestones, attenuation of vomiting, and resolution of peripheral neuropathy. Seizure were well-controlled (as was the case before treatment) despite persistence of epileptiform discharges. Again the authors cite studies of conditional (intestine-specific) SLC5A6 ko mice, with those viable (~1/3) demonstrating growth retardation, decreased boned density and GI abnormalities (similar to affected individuals). The phenotype could be rescued by oversupplementation of biotin and pantothenic acid (PMIDs cited: 23104561, 29669219).

[Please consider inclusion in other relevant panels eg. metabolic disorders]
Sources: Literature
Cerebral vascular malformations v1.70 RNF213 Louise Daugherty Publications for gene: RNF213 were set to
Cerebral vascular malformations v1.69 RNF213 Louise Daugherty Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v1.68 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
Cerebral vascular malformations v1.68 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.39 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.38 PDLIM3 Ivone Leong Mode of inheritance for gene: PDLIM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.37 PPCS Ivone Leong Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, 618189
Cardiomyopathies - including childhood onset v0.36 PPCS Ivone Leong Mode of inheritance for gene: PPCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.35 NONO Ivone Leong Mode of inheritance for gene: NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cardiomyopathies - including childhood onset v0.34 NKX2-5 Ivone Leong Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.33 MYL3 Ivone Leong Mode of inheritance for gene: MYL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.32 MYBPC3 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed as HCM can be both monoallelic and biallelic.
Cardiomyopathies - including childhood onset v0.32 MYBPC3 Ivone Leong Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.31 MLYCD Ivone Leong Publications for gene: MLYCD were set to 27604308
Cardiomyopathies - including childhood onset v0.30 LRPPRC Ivone Leong Publications for gene: LRPPRC were set to
Cardiomyopathies - including childhood onset v0.29 LMNA Ivone Leong Added comment: Comment on mode of inheritance: MOI changed to reflect the different MOI of relevant cardiac phenotypes.
Cardiomyopathies - including childhood onset v0.29 LMNA Ivone Leong Mode of inheritance for gene: LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.31 GRHL2 Catherine Snow Classified gene: GRHL2 as Amber List (moderate evidence)
Ectodermal dysplasia v0.31 GRHL2 Catherine Snow Added comment: Comment on list classification: 2 unrelated consanguineous Kuwaiti families with short stature and ectodermal dysplasia syndrome were reported in PMID: 25152456 no further cases reported therefore classifying GRHL2 as Amber.
Ectodermal dysplasia v0.31 GRHL2 Catherine Snow Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathies - including childhood onset v0.28 JPH2 Ivone Leong Mode of inheritance for gene: JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.27 HCN4 Ivone Leong Mode of inheritance for gene: HCN4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathies - including childhood onset v0.26 FHL1 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed to match that in Hypertrophic cardiomyopathy - teen and adult panel (code: 49, version 1.90).
Cardiomyopathies - including childhood onset v0.26 FHL1 Ivone Leong Mode of inheritance for gene: FHL1 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
Ectodermal dysplasia v0.30 GRHL2 Catherine Snow Publications for gene: GRHL2 were set to
Ectodermal dysplasia v0.29 GJB2 Catherine Snow commented on gene: GJB2
Cardiomyopathies - including childhood onset v0.25 FLNC Ivone Leong Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.29 KRT25 Catherine Snow Publications for gene: KRT25 were set to
Ectodermal dysplasia v0.28 KRT25 Catherine Snow Classified gene: KRT25 as Green List (high evidence)
Ectodermal dysplasia v0.28 KRT25 Catherine Snow Added comment: Comment on list classification: Reviewed by member of Genomics England clinical team, suggested Green rating. Appropriate gene to phenotype in OMIM and reported in >3 families.
Ectodermal dysplasia v0.28 KRT25 Catherine Snow Gene: krt25 has been classified as Green List (High Evidence).
Cardiomyopathies - including childhood onset v0.24 ABCC9 Ivone Leong Publications for gene: ABCC9 were set to
Cardiomyopathies - including childhood onset v0.23 AARS2 Ivone Leong Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Cardiomyopathies - including childhood onset v0.22 ALPK3 Ivone Leong Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, 618052
Cardiomyopathies - including childhood onset v0.21 ALPK3 Ivone Leong Mode of inheritance for gene: ALPK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v0.20 ALMS1 Ivone Leong Publications for gene: ALMS1 were set to PMID: 15689433
Cardiomyopathies - including childhood onset v0.19 AGK Ivone Leong Phenotypes for gene: AGK were changed from to Sengers syndrome, 212350
Cardiomyopathies - including childhood onset v0.18 AGK Ivone Leong Mode of inheritance for gene: AGK was changed from to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.27 CREBBP Catherine Snow Classified gene: CREBBP as Red List (low evidence)
Ectodermal dysplasia v0.27 CREBBP Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Ectodermal dysplasia v0.27 CREBBP Catherine Snow Gene: crebbp has been classified as Red List (Low Evidence).
Ectodermal dysplasia v0.26 DHX40 Catherine Snow Classified gene: DHX40 as Red List (low evidence)
Ectodermal dysplasia v0.26 DHX40 Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Ectodermal dysplasia v0.26 DHX40 Catherine Snow Gene: dhx40 has been classified as Red List (Low Evidence).
Ectodermal dysplasia v0.25 DHX30 Catherine Snow Classified gene: DHX30 as Red List (low evidence)
Ectodermal dysplasia v0.25 DHX30 Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Ectodermal dysplasia v0.25 DHX30 Catherine Snow Gene: dhx30 has been classified as Red List (Low Evidence).
Cardiomyopathies - including childhood onset v0.17 ACADVL Ivone Leong Publications for gene: ACADVL were set to National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp; 27604308
Cardiomyopathies - including childhood onset v0.16 UQCRB Ivone Leong edited their review of gene: UQCRB: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 TTR Ivone Leong reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TTC19 Ivone Leong edited their review of gene: TTC19: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 TMPO Ivone Leong reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TGFB3 Ivone Leong reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TCAP Ivone Leong reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TACO1 Ivone Leong edited their review of gene: TACO1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 TAB2 Ivone Leong reviewed gene: TAB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SPRED1 Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NEBL Ivone Leong reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NDUFAF8 Ivone Leong edited their review of gene: NDUFAF8: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 NDUFAF6 Ivone Leong edited their review of gene: NDUFAF6: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 NDUFA9 Ivone Leong edited their review of gene: NDUFA9: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 NDUFA6 Ivone Leong edited their review of gene: NDUFA6: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 NDUFA1 Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 LYRM7 Ivone Leong edited their review of gene: LYRM7: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 LAMA4 Ivone Leong reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ILK Ivone Leong reviewed gene: ILK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GNS Ivone Leong reviewed gene: GNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GLRA1 Ivone Leong reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GBE1 Ivone Leong reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GALNS Ivone Leong reviewed gene: GALNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ETFDH Ivone Leong reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ETFB Ivone Leong reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ETFA Ivone Leong reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 EMD Ivone Leong reviewed gene: EMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DTNA Ivone Leong reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DHCR7 Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 CYC1 Ivone Leong edited their review of gene: CYC1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 CTF1 Ivone Leong reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 CPS1 Ivone Leong reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 COX6A1 Ivone Leong edited their review of gene: COX6A1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 COA7 Ivone Leong edited their review of gene: COA7: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 BTK Ivone Leong reviewed gene: BTK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 BCS1L Ivone Leong edited their review of gene: BCS1L: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 B3GAT3 Ivone Leong reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 APOPT1 Ivone Leong edited their review of gene: APOPT1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Cardiomyopathies - including childhood onset v0.16 ANKRD1 Ivone Leong reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 UQCC2 Ivone Leong edited their review of gene: UQCC2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.16 SGSH Ivone Leong reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 RASA2 Ivone Leong reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PET100 Ivone Leong edited their review of gene: PET100: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.16 NDUFA4 Ivone Leong edited their review of gene: NDUFA4: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.16 NAGLU Ivone Leong reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NAA15 Ivone Leong reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 LDB3 Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 HGSNAT Ivone Leong reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 HFE Ivone Leong reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GLA Ivone Leong reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GATA6 Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 FOXRED1 Ivone Leong edited their review of gene: FOXRED1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.16 FKRP Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 FASTKD2 Ivone Leong edited their review of gene: FASTKD2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.16 EYA4 Ivone Leong reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 COX7B Ivone Leong edited their review of gene: COX7B: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Cardiomyopathies - including childhood onset v0.16 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 VCL Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TTN Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TSFM Ivone Leong reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TNNI3 Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TMEM70 Ivone Leong commented on gene: TMEM70: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 TMEM126B Ivone Leong commented on gene: TMEM126B: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 TAZ Ivone Leong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SURF1 Ivone Leong commented on gene: SURF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 SOS2 Ivone Leong reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SOS1 Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SLC25A4 Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SLC25A20 Ivone Leong reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SLC22A5 Ivone Leong reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SHOC2 Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SGCD Ivone Leong reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 SDHD Ivone Leong commented on gene: SDHD: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 SDHAF1 Ivone Leong commented on gene: SDHAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 SDHA Ivone Leong commented on gene: SDHA: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 SCO2 Ivone Leong commented on gene: SCO2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 SCO1 Ivone Leong commented on gene: SCO1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 RYR2 Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 RIT1 Ivone Leong reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 RBM20 Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 RAF1 Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PTPN11 Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PPP1R13L Ivone Leong reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PPP1CB Ivone Leong reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PPCS Ivone Leong reviewed gene: PPCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.24 WNT7A Catherine Snow Classified gene: WNT7A as Red List (low evidence)
Ectodermal dysplasia v0.24 WNT7A Catherine Snow Added comment: Comment on list classification: Currently no gene disease association can be found.
Cardiomyopathies - including childhood onset v0.16 PPA2 Ivone Leong reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.24 WNT7A Catherine Snow Gene: wnt7a has been classified as Red List (Low Evidence).
Cardiomyopathies - including childhood onset v0.16 PNPLA2 Ivone Leong reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PDLIM3 Ivone Leong reviewed gene: PDLIM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PCCB Ivone Leong reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 PCCA Ivone Leong reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NUBPL Ivone Leong commented on gene: NUBPL: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NRAS Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NONO Ivone Leong reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NF1 Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NEXN Ivone Leong reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 NDUFV2 Ivone Leong commented on gene: NDUFV2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFV1 Ivone Leong commented on gene: NDUFV1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS8 Ivone Leong commented on gene: NDUFS8: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS7 Ivone Leong commented on gene: NDUFS7: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS6 Ivone Leong commented on gene: NDUFS6: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS4 Ivone Leong commented on gene: NDUFS4: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS3 Ivone Leong commented on gene: NDUFS3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS2 Ivone Leong commented on gene: NDUFS2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFS1 Ivone Leong commented on gene: NDUFS1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFB8 Ivone Leong commented on gene: NDUFB8: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFB3 Ivone Leong commented on gene: NDUFB3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFB11 Ivone Leong commented on gene: NDUFB11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFAF5 Ivone Leong commented on gene: NDUFAF5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFAF4 Ivone Leong commented on gene: NDUFAF4: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFAF3 Ivone Leong commented on gene: NDUFAF3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFAF2 Ivone Leong commented on gene: NDUFAF2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFAF1 Ivone Leong commented on gene: NDUFAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFA2 Ivone Leong commented on gene: NDUFA2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFA11 Ivone Leong commented on gene: NDUFA11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 NDUFA10 Ivone Leong commented on gene: NDUFA10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 HCN4 Ivone Leong reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MYPN Ivone Leong reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MYL3 Ivone Leong reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MYL2 Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MYH6 Ivone Leong reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MYBPC3 Ivone Leong reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MUT Ivone Leong reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MRPL44 Ivone Leong reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MMACHC Ivone Leong reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MLYCD Ivone Leong reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MIB1 Ivone Leong reviewed gene: MIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MAP2K2 Ivone Leong reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 MAP2K1 Ivone Leong reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 LRPPRC Ivone Leong commented on gene: LRPPRC: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 KRAS Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 JPH2 Ivone Leong reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 IDUA Ivone Leong reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 IDS Ivone Leong reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 IDH2 Ivone Leong reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 HADHB Ivone Leong reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 HADHA Ivone Leong reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GUSB Ivone Leong reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GLB1 Ivone Leong reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 GAA Ivone Leong reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 FKTN Ivone Leong reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 FHL1 Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 FAH Ivone Leong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 EPG5 Ivone Leong reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DOLK Ivone Leong reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DNAJC19 Ivone Leong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DMD Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 CPT2 Ivone Leong reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 COX6B1 Ivone Leong commented on gene: COX6B1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 COX20 Ivone Leong commented on gene: COX20: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 COX15 Ivone Leong commented on gene: COX15: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 COX14 Ivone Leong commented on gene: COX14: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 COX10 Ivone Leong commented on gene: COX10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 COA6 Ivone Leong commented on gene: COA6: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 COA5 Ivone Leong commented on gene: COA5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 CBL Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 BRAF Ivone Leong reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 BAG3 Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ATPAF2 Ivone Leong commented on gene: ATPAF2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 ATP5D Ivone Leong commented on gene: ATP5D: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 ARSB Ivone Leong reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ALPK3 Ivone Leong reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ALMS1 Ivone Leong reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 AGL Ivone Leong reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 AGK Ivone Leong reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ACTA1 Ivone Leong reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ACADVL Ivone Leong reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 ACAD9 Ivone Leong commented on gene: ACAD9: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Cardiomyopathies - including childhood onset v0.16 ABCC9 Ivone Leong reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cardiomyopathies - including childhood onset v0.16 AARS2 Ivone Leong reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.23 AR Catherine Snow Classified gene: AR as Red List (low evidence)
Ectodermal dysplasia v0.23 AR Catherine Snow Added comment: Comment on list classification: No gene disease association can be found.
Ectodermal dysplasia v0.23 AR Catherine Snow Gene: ar has been classified as Red List (Low Evidence).
Cardiomyopathies - including childhood onset v0.15 UQCRB Ivone Leong Source Expert Review Red was added to UQCRB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 TTR Ivone Leong Source Expert Review Red was added to TTR.
Source NHS GMS was added to TTR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 TTC19 Ivone Leong Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 TMPO Ivone Leong Source NHS GMS was added to TMPO.
Cardiomyopathies - including childhood onset v0.15 TGFB3 Ivone Leong Source NHS GMS was added to TGFB3.
Cardiomyopathies - including childhood onset v0.15 TCAP Ivone Leong Source Expert Review Red was added to TCAP.
Source NHS GMS was added to TCAP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 TACO1 Ivone Leong Source Expert Review Red was added to TACO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 TAB2 Ivone Leong Source Expert Review Red was added to TAB2.
Source NHS GMS was added to TAB2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 SPRED1 Ivone Leong Source Expert Review Red was added to SPRED1.
Source NHS GMS was added to SPRED1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 NEBL Ivone Leong Source NHS GMS was added to NEBL.
Cardiomyopathies - including childhood onset v0.15 NDUFAF8 Ivone Leong Source Expert Review Red was added to NDUFAF8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 NDUFAF6 Ivone Leong Source Expert Review Red was added to NDUFAF6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 NDUFA9 Ivone Leong Source Expert Review Red was added to NDUFA9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 NDUFA6 Ivone Leong Source Expert Review Red was added to NDUFA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 NDUFA1 Ivone Leong Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 LYRM7 Ivone Leong Source Expert Review Red was added to LYRM7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 LAMA4 Ivone Leong Source NHS GMS was added to LAMA4.
Cardiomyopathies - including childhood onset v0.15 ILK Ivone Leong Source NHS GMS was added to ILK.
Cardiomyopathies - including childhood onset v0.15 GNS Ivone Leong Source Expert Review Red was added to GNS.
Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 GLRA1 Ivone Leong Source Expert Review Red was added to GLRA1.
Source NHS GMS was added to GLRA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 GBE1 Ivone Leong Source Expert Review Red was added to GBE1.
Source NHS GMS was added to GBE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 GALNS Ivone Leong Source Expert Review Red was added to GALNS.
Source NHS GMS was added to GALNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 ETFDH Ivone Leong Source Expert Review Red was added to ETFDH.
Source NHS GMS was added to ETFDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 ETFB Ivone Leong Source Expert Review Red was added to ETFB.
Source NHS GMS was added to ETFB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 ETFA Ivone Leong Source Expert Review Red was added to ETFA.
Source NHS GMS was added to ETFA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 EMD Ivone Leong Source NHS GMS was added to EMD.
Cardiomyopathies - including childhood onset v0.15 DTNA Ivone Leong Source NHS GMS was added to DTNA.
Cardiomyopathies - including childhood onset v0.15 DHCR7 Ivone Leong Source Expert Review Red was added to DHCR7.
Source NHS GMS was added to DHCR7.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 CYC1 Ivone Leong Source Expert Review Red was added to CYC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 CTF1 Ivone Leong Source NHS GMS was added to CTF1.
Cardiomyopathies - including childhood onset v0.15 CPS1 Ivone Leong Source Expert Review Red was added to CPS1.
Source NHS GMS was added to CPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 COX6A1 Ivone Leong Source Expert Review Red was added to COX6A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 COA7 Ivone Leong Source Expert Review Red was added to COA7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 BTK Ivone Leong gene: BTK was added
gene: BTK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: BTK was set to
Cardiomyopathies - including childhood onset v0.15 BCS1L Ivone Leong Source Expert Review Red was added to BCS1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 B3GAT3 Ivone Leong Source Expert Review Red was added to B3GAT3.
Source NHS GMS was added to B3GAT3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 APOPT1 Ivone Leong Source Expert Review Red was added to APOPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 ANKRD1 Ivone Leong Source Expert Review Red was added to ANKRD1.
Source NHS GMS was added to ANKRD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Cardiomyopathies - including childhood onset v0.15 UQCC2 Ivone Leong Source Expert Review Amber was added to UQCC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 SGSH Ivone Leong Source NHS GMS was added to SGSH.
Source Expert Review Amber was added to SGSH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 RASA2 Ivone Leong Source NHS GMS was added to RASA2.
Source Expert Review Amber was added to RASA2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 PET100 Ivone Leong Source Expert Review Amber was added to PET100.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 NDUFA4 Ivone Leong Source Expert Review Amber was added to NDUFA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 NAGLU Ivone Leong Source NHS GMS was added to NAGLU.
Source Expert Review Amber was added to NAGLU.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 NAA15 Ivone Leong gene: NAA15 was added
gene: NAA15 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to
Cardiomyopathies - including childhood onset v0.15 LDB3 Ivone Leong Source NHS GMS was added to LDB3.
Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Source Expert Review Amber was added to HGSNAT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 HFE Ivone Leong Source NHS GMS was added to HFE.
Source Expert Review Amber was added to HFE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 GLA Ivone Leong Source NHS GMS was added to GLA.
Source Expert Review Amber was added to GLA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to
Cardiomyopathies - including childhood onset v0.15 FOXRED1 Ivone Leong Source Expert Review Amber was added to FOXRED1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to
Cardiomyopathies - including childhood onset v0.15 FASTKD2 Ivone Leong Source Expert Review Amber was added to FASTKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 EYA4 Ivone Leong Source NHS GMS was added to EYA4.
Source Expert Review Amber was added to EYA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 CSRP3 Ivone Leong Source NHS GMS was added to CSRP3.
Source Expert Review Amber was added to CSRP3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 CRYAB Ivone Leong Source NHS GMS was added to CRYAB.
Cardiomyopathies - including childhood onset v0.15 COX7B Ivone Leong Source Expert Review Amber was added to COX7B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cardiomyopathies - including childhood onset v0.15 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to
Cardiomyopathies - including childhood onset v0.15 VCL Ivone Leong Source NHS GMS was added to VCL.
Cardiomyopathies - including childhood onset v0.15 TTN Ivone Leong Source NHS GMS was added to TTN.
Cardiomyopathies - including childhood onset v0.15 TSFM Ivone Leong Source NHS GMS was added to TSFM.
Cardiomyopathies - including childhood onset v0.15 TPM1 Ivone Leong Source NHS GMS was added to TPM1.
Cardiomyopathies - including childhood onset v0.15 TNNT2 Ivone Leong Source NHS GMS was added to TNNT2.
Cardiomyopathies - including childhood onset v0.15 TNNI3K Ivone Leong gene: TNNI3K was added
gene: TNNI3K was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TNNI3K was set to
Cardiomyopathies - including childhood onset v0.15 TNNI3 Ivone Leong Source NHS GMS was added to TNNI3.
Cardiomyopathies - including childhood onset v0.15 TNNC1 Ivone Leong Source NHS GMS was added to TNNC1.
Cardiomyopathies - including childhood onset v0.15 TMEM43 Ivone Leong Source NHS GMS was added to TMEM43.
Cardiomyopathies - including childhood onset v0.15 TAZ Ivone Leong Source NHS GMS was added to TAZ.
Cardiomyopathies - including childhood onset v0.15 SOS2 Ivone Leong Source NHS GMS was added to SOS2.
Cardiomyopathies - including childhood onset v0.15 SOS1 Ivone Leong Source NHS GMS was added to SOS1.
Cardiomyopathies - including childhood onset v0.15 SLC25A4 Ivone Leong Source NHS GMS was added to SLC25A4.
Cardiomyopathies - including childhood onset v0.15 SLC25A20 Ivone Leong Source NHS GMS was added to SLC25A20.
Cardiomyopathies - including childhood onset v0.15 SLC22A5 Ivone Leong Source NHS GMS was added to SLC22A5.
Cardiomyopathies - including childhood onset v0.15 SHOC2 Ivone Leong Source NHS GMS was added to SHOC2.
Cardiomyopathies - including childhood onset v0.15 SGCD Ivone Leong Source NHS GMS was added to SGCD.
Cardiomyopathies - including childhood onset v0.15 SCN5A Ivone Leong Source NHS GMS was added to SCN5A.
Cardiomyopathies - including childhood onset v0.15 RYR2 Ivone Leong Source NHS GMS was added to RYR2.
Cardiomyopathies - including childhood onset v0.15 RIT1 Ivone Leong Source NHS GMS was added to RIT1.
Cardiomyopathies - including childhood onset v0.15 RBM20 Ivone Leong Source NHS GMS was added to RBM20.
Cardiomyopathies - including childhood onset v0.15 RAF1 Ivone Leong Source NHS GMS was added to RAF1.
Cardiomyopathies - including childhood onset v0.15 PTPN11 Ivone Leong Source NHS GMS was added to PTPN11.
Cardiomyopathies - including childhood onset v0.15 PRKAG2 Ivone Leong Source NHS GMS was added to PRKAG2.
Cardiomyopathies - including childhood onset v0.15 PPP1R13L Ivone Leong Source NHS GMS was added to PPP1R13L.
Cardiomyopathies - including childhood onset v0.15 PPP1CB Ivone Leong Source NHS GMS was added to PPP1CB.
Cardiomyopathies - including childhood onset v0.15 PPCS Ivone Leong gene: PPCS was added
gene: PPCS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPCS was set to
Cardiomyopathies - including childhood onset v0.15 PPA2 Ivone Leong Source NHS GMS was added to PPA2.
Cardiomyopathies - including childhood onset v0.15 PNPLA2 Ivone Leong Source NHS GMS was added to PNPLA2.
Cardiomyopathies - including childhood onset v0.15 PLN Ivone Leong Source NHS GMS was added to PLN.
Cardiomyopathies - including childhood onset v0.15 PKP2 Ivone Leong Source NHS GMS was added to PKP2.
Cardiomyopathies - including childhood onset v0.15 PDLIM3 Ivone Leong Source Expert Review Green was added to PDLIM3.
Source NHS GMS was added to PDLIM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v0.15 PCCB Ivone Leong Source NHS GMS was added to PCCB.
Cardiomyopathies - including childhood onset v0.15 PCCA Ivone Leong Source NHS GMS was added to PCCA.
Cardiomyopathies - including childhood onset v0.15 NRAS Ivone Leong Source NHS GMS was added to NRAS.
Cardiomyopathies - including childhood onset v0.15 NONO Ivone Leong gene: NONO was added
gene: NONO was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NONO was set to
Cardiomyopathies - including childhood onset v0.15 NKX2-5 Ivone Leong Source Expert Review Green was added to NKX2-5.
Source NHS GMS was added to NKX2-5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v0.15 NF1 Ivone Leong Source NHS GMS was added to NF1.
Cardiomyopathies - including childhood onset v0.15 NEXN Ivone Leong Source NHS GMS was added to NEXN.
Cardiomyopathies - including childhood onset v0.15 HCN4 Ivone Leong gene: HCN4 was added
gene: HCN4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCN4 was set to
Cardiomyopathies - including childhood onset v0.15 MYPN Ivone Leong Source NHS GMS was added to MYPN.
Cardiomyopathies - including childhood onset v0.15 MYL3 Ivone Leong Source NHS GMS was added to MYL3.
Cardiomyopathies - including childhood onset v0.15 MYL2 Ivone Leong Source NHS GMS was added to MYL2.
Cardiomyopathies - including childhood onset v0.15 MYH7 Ivone Leong Source NHS GMS was added to MYH7.
Cardiomyopathies - including childhood onset v0.15 MYH6 Ivone Leong Source NHS GMS was added to MYH6.
Cardiomyopathies - including childhood onset v0.15 MYBPC3 Ivone Leong Source NHS GMS was added to MYBPC3.
Cardiomyopathies - including childhood onset v0.15 MUT Ivone Leong Source NHS GMS was added to MUT.
Cardiomyopathies - including childhood onset v0.15 MRPL44 Ivone Leong Source NHS GMS was added to MRPL44.
Cardiomyopathies - including childhood onset v0.15 MMACHC Ivone Leong Source NHS GMS was added to MMACHC.
Cardiomyopathies - including childhood onset v0.15 MLYCD Ivone Leong Source NHS GMS was added to MLYCD.
Cardiomyopathies - including childhood onset v0.15 MIB1 Ivone Leong Source NHS GMS was added to MIB1.
Cardiomyopathies - including childhood onset v0.15 MAP2K2 Ivone Leong Source NHS GMS was added to MAP2K2.
Cardiomyopathies - including childhood onset v0.15 MAP2K1 Ivone Leong Source NHS GMS was added to MAP2K1.
Cardiomyopathies - including childhood onset v0.15 LZTR1 Ivone Leong Source NHS GMS was added to LZTR1.
Cardiomyopathies - including childhood onset v0.15 LMNA Ivone Leong Source NHS GMS was added to LMNA.
Cardiomyopathies - including childhood onset v0.15 LAMP2 Ivone Leong Source NHS GMS was added to LAMP2.
Cardiomyopathies - including childhood onset v0.15 KRAS Ivone Leong Source NHS GMS was added to KRAS.
Cardiomyopathies - including childhood onset v0.15 JUP Ivone Leong Source NHS GMS was added to JUP.
Cardiomyopathies - including childhood onset v0.15 JPH2 Ivone Leong gene: JPH2 was added
gene: JPH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JPH2 was set to
Cardiomyopathies - including childhood onset v0.15 IDUA Ivone Leong Source NHS GMS was added to IDUA.
Cardiomyopathies - including childhood onset v0.15 IDS Ivone Leong Source NHS GMS was added to IDS.
Cardiomyopathies - including childhood onset v0.15 IDH2 Ivone Leong Source NHS GMS was added to IDH2.
Cardiomyopathies - including childhood onset v0.15 HRAS Ivone Leong Source NHS GMS was added to HRAS.
Cardiomyopathies - including childhood onset v0.15 HADHB Ivone Leong Source NHS GMS was added to HADHB.
Cardiomyopathies - including childhood onset v0.15 HADHA Ivone Leong Source NHS GMS was added to HADHA.
Cardiomyopathies - including childhood onset v0.15 GUSB Ivone Leong Source NHS GMS was added to GUSB.
Cardiomyopathies - including childhood onset v0.15 GLB1 Ivone Leong Source NHS GMS was added to GLB1.
Cardiomyopathies - including childhood onset v0.15 GAA Ivone Leong Source NHS GMS was added to GAA.
Cardiomyopathies - including childhood onset v0.15 FLNC Ivone Leong gene: FLNC was added
gene: FLNC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLNC was set to
Cardiomyopathies - including childhood onset v0.15 FKTN Ivone Leong Source NHS GMS was added to FKTN.
Cardiomyopathies - including childhood onset v0.15 FHL1 Ivone Leong Source NHS GMS was added to FHL1.
Cardiomyopathies - including childhood onset v0.15 FAH Ivone Leong Source NHS GMS was added to FAH.
Cardiomyopathies - including childhood onset v0.15 EPG5 Ivone Leong Source NHS GMS was added to EPG5.
Cardiomyopathies - including childhood onset v0.15 DSP Ivone Leong Source NHS GMS was added to DSP.
Cardiomyopathies - including childhood onset v0.15 DSG2 Ivone Leong Source NHS GMS was added to DSG2.
Cardiomyopathies - including childhood onset v0.15 DSC2 Ivone Leong Source NHS GMS was added to DSC2.
Cardiomyopathies - including childhood onset v0.15 DOLK Ivone Leong Source NHS GMS was added to DOLK.
Cardiomyopathies - including childhood onset v0.15 DNAJC19 Ivone Leong Source NHS GMS was added to DNAJC19.
Cardiomyopathies - including childhood onset v0.15 DMD Ivone Leong Source NHS GMS was added to DMD.
Cardiomyopathies - including childhood onset v0.15 DES Ivone Leong Source NHS GMS was added to DES.
Cardiomyopathies - including childhood onset v0.15 CPT2 Ivone Leong Source NHS GMS was added to CPT2.
Cardiomyopathies - including childhood onset v0.15 COA5 Ivone Leong Source Expert Review Green was added to COA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v0.15 CBL Ivone Leong Source NHS GMS was added to CBL.
Cardiomyopathies - including childhood onset v0.15 BRAF Ivone Leong Source NHS GMS was added to BRAF.
Cardiomyopathies - including childhood onset v0.15 BAG3 Ivone Leong Source NHS GMS was added to BAG3.
Cardiomyopathies - including childhood onset v0.15 ARSB Ivone Leong Source NHS GMS was added to ARSB.
Cardiomyopathies - including childhood onset v0.15 ALPK3 Ivone Leong gene: ALPK3 was added
gene: ALPK3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALPK3 was set to
Cardiomyopathies - including childhood onset v0.15 ALMS1 Ivone Leong Source Expert Review Green was added to ALMS1.
Source NHS GMS was added to ALMS1.
Rating Changed from No List (delete) to Green List (high evidence)
Cardiomyopathies - including childhood onset v0.15 AGL Ivone Leong Source NHS GMS was added to AGL.
Cardiomyopathies - including childhood onset v0.15 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AGK was set to
Cardiomyopathies - including childhood onset v0.15 ACTN2 Ivone Leong Source NHS GMS was added to ACTN2.
Cardiomyopathies - including childhood onset v0.15 ACTC1 Ivone Leong Source NHS GMS was added to ACTC1.
Cardiomyopathies - including childhood onset v0.15 ACTA1 Ivone Leong Source NHS GMS was added to ACTA1.
Cardiomyopathies - including childhood onset v0.15 ACADVL Ivone Leong Source NHS GMS was added to ACADVL.
Cardiomyopathies - including childhood onset v0.15 ABCC9 Ivone Leong Source NHS GMS was added to ABCC9.
Cardiomyopathies - including childhood onset v0.15 AARS2 Ivone Leong Source NHS GMS was added to AARS2.
Cardiomyopathies - including childhood onset v0.14 ISCA-37431-Loss Ivone Leong Classified Region: ISCA-37431-Loss as Red List (low evidence)
Cardiomyopathies - including childhood onset v0.14 ISCA-37431-Loss Ivone Leong Added comment: Comment on list classification: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Amber to Red as the group has agreed that this gene should be Red on this panel.
Cardiomyopathies - including childhood onset v0.14 ISCA-37431-Loss Ivone Leong Region: isca-37431-loss has been classified as Red List (Low Evidence).
Vascular skin disorders v0.21 ALAS2 Catherine Snow Source Expert Review Green was added to ALAS2.
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 PSEN1 Catherine Snow Source Expert Review Green was added to PSEN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 NCSTN Catherine Snow Source Expert Review Green was added to NCSTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 CARD11 Catherine Snow Source Expert Review Green was added to CARD11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 MVD Catherine Snow Source Expert Review Green was added to MVD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.18 FDPS Catherine Snow Source Expert Review Green was added to FDPS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 GATA1 Catherine Snow Source Expert Review Green was added to GATA1.
Added phenotypes Congenital erythropoietic porphyria; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 UROS Catherine Snow Source Expert Review Green was added to UROS.
Added phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700 for gene: UROS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 UROD Catherine Snow Source Expert Review Green was added to UROD.
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 PPOX Catherine Snow Source Expert Review Green was added to PPOX.
Added phenotypes Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) for gene: PPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 HMBS Catherine Snow Source Expert Review Green was added to HMBS.
Added phenotypes Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.11 CPOX Catherine Snow Source Expert Review Green was added to CPOX.
Added phenotypes Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) for gene: CPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAS2 Catherine Snow Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAD Catherine Snow Source Expert Review Green was added to ALAD.
Added phenotypes {Lead poisoning, susceptibility to} 612740; Porphyria, acute hepatic 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Source Expert Review Green was added to FECH.
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAS2 Catherine Snow Source Expert Review Green was added to ALAS2.
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 XRCC2 Catherine Snow Source Expert Review Green was added to XRCC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCM Catherine Snow Source Expert Review Green was added to FANCM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 RAD51C Catherine Snow Source Expert Review Green was added to RAD51C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 MAD2L2 Catherine Snow Source Expert Review Green was added to MAD2L2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 UBE2T Catherine Snow Source Expert Review Green was added to UBE2T.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCL Catherine Snow Source Expert Review Green was added to FANCL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCI Catherine Snow Source Expert Review Green was added to FANCI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCG Catherine Snow Source Expert Review Green was added to FANCG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCF Catherine Snow Source Expert Review Green was added to FANCF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCE Catherine Snow Source Expert Review Green was added to FANCE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCD2 Catherine Snow Source Expert Review Green was added to FANCD2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCC Catherine Snow Source Expert Review Green was added to FANCC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCB Catherine Snow Source Expert Review Green was added to FANCB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCA Catherine Snow Source Expert Review Green was added to FANCA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 ERCC4 Catherine Snow Source Expert Review Green was added to ERCC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRIP1 Catherine Snow Source Expert Review Green was added to BRIP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRCA2 Catherine Snow Source Expert Review Green was added to BRCA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRCA1 Catherine Snow Source Expert Review Green was added to BRCA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Vascular skin disorders v0.20 ALAS2 Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 PSEN1 Catherine Snow reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 NCSTN Catherine Snow reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 CARD11 Catherine Snow reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 MVD Catherine Snow reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.17 FDPS Catherine Snow reviewed gene: FDPS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 GATA1 Catherine Snow reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 UROS Catherine Snow reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 UROD Catherine Snow reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 PPOX Catherine Snow reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 HMBS Catherine Snow reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow commented on gene: FECH: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 CPOX Catherine Snow reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAS2 Catherine Snow commented on gene: ALAS2: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAD Catherine Snow reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAS2 Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 XRCC2 Catherine Snow reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCM Catherine Snow reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 RAD51C Catherine Snow reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 MAD2L2 Catherine Snow reviewed gene: MAD2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 UBE2T Catherine Snow reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCL Catherine Snow reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCI Catherine Snow reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCG Catherine Snow reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCF Catherine Snow reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCE Catherine Snow reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCD2 Catherine Snow reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCC Catherine Snow reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCB Catherine Snow reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCA Catherine Snow reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 ERCC4 Catherine Snow reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRIP1 Catherine Snow reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRCA2 Catherine Snow reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRCA1 Catherine Snow reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.19 ALAS2 Catherine Snow gene: ALAS2 was added
gene: ALAS2 was added to Vascular skin disorders. Sources: Expert Review
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752
Rare genetic inflammatory skin disorders v0.16 PSEN1 Catherine Snow gene: PSEN1 was added
gene: PSEN1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 NCSTN Catherine Snow gene: NCSTN was added
gene: NCSTN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 CARD11 Catherine Snow gene: CARD11 was added
gene: CARD11 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.16 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.16 FDPS Catherine Snow gene: FDPS was added
gene: FDPS was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cutaneous photosensitivity with a likely genetic cause v0.9 GATA1 Catherine Snow gene: GATA1 was added
gene: GATA1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Cutaneous photosensitivity with a likely genetic cause v0.9 UROS Catherine Snow gene: UROS was added
gene: UROS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
Cutaneous photosensitivity with a likely genetic cause v0.9 UROD Catherine Snow gene: UROD was added
gene: UROD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Cutaneous photosensitivity with a likely genetic cause v0.9 PPOX Catherine Snow gene: PPOX was added
gene: PPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)
Cutaneous photosensitivity with a likely genetic cause v0.9 HMBS Catherine Snow gene: HMBS was added
gene: HMBS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.9 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAS2 Catherine Snow Added phenotypes Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAD Catherine Snow gene: ALAD was added
gene: ALAD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAS2 Catherine Snow gene: ALAS2 was added
gene: ALAS2 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752
Pigmentary skin disorders v0.21 XRCC2 Catherine Snow gene: XRCC2 was added
gene: XRCC2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCM Catherine Snow gene: FANCM was added
gene: FANCM was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 RAD51C Catherine Snow gene: RAD51C was added
gene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 MAD2L2 Catherine Snow gene: MAD2L2 was added
gene: MAD2L2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 UBE2T Catherine Snow gene: UBE2T was added
gene: UBE2T was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCL Catherine Snow gene: FANCL was added
gene: FANCL was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCI Catherine Snow gene: FANCI was added
gene: FANCI was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCG Catherine Snow gene: FANCG was added
gene: FANCG was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCF Catherine Snow gene: FANCF was added
gene: FANCF was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCE Catherine Snow gene: FANCE was added
gene: FANCE was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCD2 Catherine Snow gene: FANCD2 was added
gene: FANCD2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCC Catherine Snow gene: FANCC was added
gene: FANCC was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCB Catherine Snow gene: FANCB was added
gene: FANCB was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pigmentary skin disorders v0.21 FANCA Catherine Snow gene: FANCA was added
gene: FANCA was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 ERCC4 Catherine Snow gene: ERCC4 was added
gene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRIP1 Catherine Snow gene: BRIP1 was added
gene: BRIP1 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRCA2 Catherine Snow gene: BRCA2 was added
gene: BRCA2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRCA1 Catherine Snow gene: BRCA1 was added
gene: BRCA1 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.197 FXR1 Louise Daugherty Classified gene: FXR1 as Amber List (moderate evidence)
Congenital myopathy v1.197 FXR1 Louise Daugherty Gene: fxr1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.196 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Amber List (moderate evidence)
Congenital myopathy v1.196 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.15 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v1.15 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.14 ADSSL1 Louise Daugherty gene: ADSSL1 was added
gene: ADSSL1 was added to Distal myopathies. Sources: Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, 617030
Review for gene: ADSSL1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel
Sources: Expert Review
Congenital myopathy v1.195 FXR1 Louise Daugherty gene: FXR1 was added
gene: FXR1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 30770808
Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy
Review for gene: FXR1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
DEMO Diabetes neonatal onset v0.6 Ellen McDonagh removed gene:G6PD from the panel
DEMO Diabetes neonatal onset v0.5 G6PD Ellen McDonagh gene: G6PD was added
gene: G6PD was added to DEMO Diabetes neonatal onset. Sources: Other
Mode of inheritance for gene: G6PD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: G6PD were set to Demo
Added comment: Demo
Sources: Other
Renal tubulopathies v1.195 CLDN16 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber. Many cases reported in OMIM.; to: Comment on list classification: Changing rating from red to green. Many cases reported in OMIM.
DEMO Diabetes neonatal onset v0.3 Ellen McDonagh Panel name changed from DEMO Diabetes - neonatal onset to DEMO Diabetes neonatal onset
DEMO Diabetes neonatal onset v0.2 Ellen McDonagh Panel status changed from internal to public
DEMO Diabetes neonatal onset v0.0 ISCA-37442-Gain Ellen McDonagh Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 8842729; 10615957; 10923638
Phenotypes for Region: ISCA-37442-Gain were set to 601410; Transient neonatal diabetes; Transient neonatal diabetes mellitus
DEMO Diabetes neonatal onset v0.0 LPL Ellen McDonagh gene: LPL was added
gene: LPL was added to DEMO Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPL were set to 12408192
Phenotypes for gene: LPL were set to lipoprotein lipase deficiency; transient neonatal diabetes
DEMO Diabetes neonatal onset v0.0 COQ9 Ellen McDonagh gene: COQ9 was added
gene: COQ9 was added to DEMO Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia
DEMO Diabetes neonatal onset v0.0 COQ2 Ellen McDonagh gene: COQ2 was added
gene: COQ2 was added to DEMO Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
DEMO Diabetes neonatal onset v0.0 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Red,NHS GMS,Other
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
DEMO Diabetes neonatal onset v0.0 AGPAT2 Ellen McDonagh gene: AGPAT2 was added
gene: AGPAT2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Red,NHS GMS,Expert Review
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to Poovazhagi et al., Int J Diabetes Dev Ctries (January March 2013) 33(1):66 68, DOI 10.1007/s13410-012-0099-6
Phenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus
DEMO Diabetes neonatal onset v0.0 ZFP57 Ellen McDonagh gene: ZFP57 was added
gene: ZFP57 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to 18622393
Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive
DEMO Diabetes neonatal onset v0.0 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Other
Mode of inheritance for gene: WFS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WFS1 were set to 28468959
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300; Syndromic neonatal diabetes
DEMO Diabetes neonatal onset v0.0 STAT3 Ellen McDonagh gene: STAT3 was added
gene: STAT3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 25038750
Phenotypes for gene: STAT3 were set to Neonatal diabetes and additional multi-organ autoimmunity; Neonatal diabetes and early-onset multi-organ autoimmune disease; permanent neonatal diabetes
DEMO Diabetes neonatal onset v0.0 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 22060631; 12029458; 22660720
Phenotypes for gene: SLC2A2 were set to hepatomegaly, RTA and hypophosphatemic rickets; Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); short stature; Fanconi Bickel Syndrome; permanent neonatal diabetes (PDNM); neonatal diabetes
DEMO Diabetes neonatal onset v0.0 SLC19A2 Ellen McDonagh gene: SLC19A2 was added
gene: SLC19A2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 22369132; 17659067
Phenotypes for gene: SLC19A2 were set to Thiamine responsive megaloblastic anaemia; Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); neonatal diabetes
DEMO Diabetes neonatal onset v0.0 RFX6 Ellen McDonagh gene: RFX6 was added
gene: RFX6 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 21215266; 26264437; 21965172; 20148032
Phenotypes for gene: RFX6 were set to pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome; Syndromic Neonatal diabetes
DEMO Diabetes neonatal onset v0.0 PTF1A Ellen McDonagh gene: PTF1A was added
gene: PTF1A was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes with cerebellar agenesis; Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
DEMO Diabetes neonatal onset v0.0 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDX1 were set to 2970316; 20009086; 8988180; 19496967; 9326926
Phenotypes for gene: PDX1 were set to pancreas agenesis; Permanent neonatal diabetes; permanent neonatal diabetes mellitus associated with pancreas agenesis; Pancreatic agenesis 1, 260370
DEMO Diabetes neonatal onset v0.0 NKX2-2 Ellen McDonagh gene: NKX2-2 was added
gene: NKX2-2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943
Phenotypes for gene: NKX2-2 were set to Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
DEMO Diabetes neonatal onset v0.0 NEUROG3 Ellen McDonagh gene: NEUROG3 was added
gene: NEUROG3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 21378176; 25120094; 21490072; 21993633
Phenotypes for gene: NEUROG3 were set to Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS); congenital malabsorptive diarrhea and neonatal diabetes; Permanent neonatal diabetes and enteric anendocrinosis
DEMO Diabetes neonatal onset v0.0 NEUROD1 Ellen McDonagh gene: NEUROD1 was added
gene: NEUROD1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 20573748
Phenotypes for gene: NEUROD1 were set to Permanent neonatal diabetes and cerebellar agenesis; Maturity-onset diabetes of the young 6, 606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
DEMO Diabetes neonatal onset v0.0 MNX1 Ellen McDonagh gene: MNX1 was added
gene: MNX1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 23562494; 24411943
Phenotypes for gene: MNX1 were set to IUGR; Neonatal Diabetes; w w/o eatures of Currarrino syndrome and sacral agenesis; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; Currarino syndrome, 176450
DEMO Diabetes neonatal onset v0.0 LRBA Ellen McDonagh gene: LRBA was added
gene: LRBA was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 28473463; 26745254
Phenotypes for gene: LRBA were set to Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity
DEMO Diabetes neonatal onset v0.0 KCNJ11 Ellen McDonagh gene: KCNJ11 was added
gene: KCNJ11 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Transient Neonatal Diabetes, Dominant; Isolated permanent neonatal diabetes; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, PermanentNeonatal; Transient Neonatal diabetes mellitus (Dominant); Diabetes mellitus, permanent neonatal, with neurologic features, 606176; isolated transient neonatal diabetes, neonatal diabetes and developmental delay; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes mellitus, transient neonatal, 3, 610582
DEMO Diabetes neonatal onset v0.0 INSR Ellen McDonagh gene: INSR was added
gene: INSR was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Other
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Donohue syndrome, 246200; neonatal diabetes
DEMO Diabetes neonatal onset v0.0 INS Ellen McDonagh gene: INS was added
gene: INS was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INS were set to 26101329; 17855560
Phenotypes for gene: INS were set to Permanent Neonatal diabetes mellitus; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young, type 10, 613370; Hyperproinsulinemia, familial, with or without diabetes; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, insulin-dependent, 2, 125852; Diabetes mellitus, type 1, 125852
DEMO Diabetes neonatal onset v0.0 IL2RA Ellen McDonagh gene: IL2RA was added
gene: IL2RA was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; IPEX-like syndrome; insulin-dependent diabetes mellitus at 8-weeks; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; neonatal diabetes
DEMO Diabetes neonatal onset v0.0 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 24138066; 21835305; 22991235
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes
DEMO Diabetes neonatal onset v0.0 HNF1B Ellen McDonagh gene: HNF1B was added
gene: HNF1B was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 17116179; 15181075; 26997508; 16207896; 15930087; 21993633
Phenotypes for gene: HNF1B were set to permanent neonatal diabetes mellitus; Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW; Diabetes mellitus, noninsulin-dependent, 125853; Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM)
DEMO Diabetes neonatal onset v0.0 GLIS3 Ellen McDonagh gene: GLIS3 was added
gene: GLIS3 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism
DEMO Diabetes neonatal onset v0.0 GCK Ellen McDonagh gene: GCK was added
gene: GCK was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to Permanent neonatal diabetes; MODY, type II, 125851; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Fasting hyperglycaemia, permanent neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, gestational, 125851
DEMO Diabetes neonatal onset v0.0 GATA6 Ellen McDonagh gene: GATA6 was added
gene: GATA6 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA6 were set to 28049534; 23223019; 22158542
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus
DEMO Diabetes neonatal onset v0.0 GATA4 Ellen McDonagh gene: GATA4 was added
gene: GATA4 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 24696446; 27810688; 20854389
Phenotypes for gene: GATA4 were set to transient neonatal diabetes melllitus; permanent neonatal diabetes melllitus; Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
DEMO Diabetes neonatal onset v0.0 FOXP3 Ellen McDonagh gene: FOXP3 was added
gene: FOXP3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FOXP3 were set to 25187107; 17635943; 26918796; 12750858
Phenotypes for gene: FOXP3 were set to IPEX syndrome; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I))
DEMO Diabetes neonatal onset v0.0 EIF2S3 Ellen McDonagh gene: EIF2S3 was added
gene: EIF2S3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 28055140
Phenotypes for gene: EIF2S3 were set to diabetes; hypogonadism; MEHMO syndrome (X-linked NDM and microcephaly),300148; microcephaly; intellectual disability; epilepsy; central obesity; hypogenitalism
DEMO Diabetes neonatal onset v0.0 EIF2AK3 Ellen McDonagh gene: EIF2AK3 was added
gene: EIF2AK3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 19837917
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy)
DEMO Diabetes neonatal onset v0.0 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 11479539
Phenotypes for gene: BSCL2 were set to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700
DEMO Diabetes neonatal onset v0.0 ABCC8 Ellen McDonagh gene: ABCC8 was added
gene: ABCC8 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Transient Neonatal Diabetes, Dominant; Isolated permanent neonatal diabetes; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450; transient neonatal diabetes (Dominant); Diabetes mellitus, permanent neonatal, 606176; isolated transient neonatal diabetes, neonatal diabetes and developmental delay; Permanent neonatal diabetes mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800
DEMO Diabetes neonatal onset v0.0 Ellen McDonagh Added panel DEMO Diabetes - neonatal onset
Arrhythmogenic cardiomyopathy v1.55 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arrhythmogenic cardiomyopathy v1.55 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Arrhythmogenic cardiomyopathy. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Test panel name v3.21 PYROXD1 BRIDGE consortium gene: PYROXD1 was added
gene: PYROXD1 was added to Test panel name. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: PYROXD1 were set to TEST
Review for gene: PYROXD1 was set to AMBER
Added comment: TEST
Sources: Expert Review
Arrhythmogenic cardiomyopathy v1.54 TTN Ivone Leong Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145
Arrhythmogenic cardiomyopathy v1.53 TTN Ivone Leong Publications for gene: TTN were set to
Arrhythmogenic cardiomyopathy v1.52 RBM20 Ivone Leong Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172
Arrhythmogenic cardiomyopathy v1.51 RBM20 Ivone Leong Publications for gene: RBM20 were set to
Arrhythmogenic cardiomyopathy v1.50 SCN5A Ivone Leong Publications for gene: SCN5A were set to 24317018; doi:10.​1007/​s12265-016-9673-5
Arrhythmogenic cardiomyopathy v1.49 PLN Ivone Leong Publications for gene: PLN were set to 22820313; 28102477
Arrhythmogenic cardiomyopathy v1.48 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from to LMNA-related DCM
Arrhythmogenic cardiomyopathy v1.47 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)
Arrhythmogenic cardiomyopathy v1.46 DES Ivone Leong Publications for gene: DES were set to 29567486
Arrhythmogenic cardiomyopathy v1.45 TTN Ivone Leong reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 RYR2 Ivone Leong reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 RBM20 Ivone Leong reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 CDH2 Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.44 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Arrhythmogenic cardiomyopathy v1.44 LMNA Ivone Leong Source Expert Review Green was added to LMNA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Congenital myopathy v1.193 PYROXD1 Louise Daugherty gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833; 31455395
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy
Review for gene: PYROXD1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Congenital myopathy v1.193 PYROXD1 Louise Daugherty gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833; 31455395
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy
Review for gene: PYROXD1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Multiple monogenic benign skin tumours v0.11 MSH6 Catherine Snow Classified gene: MSH6 as Amber List (moderate evidence)
Multiple monogenic benign skin tumours v0.11 MSH6 Catherine Snow Gene: msh6 has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Classified gene: ADAMTS13 as Green List (high evidence)
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, ADAMTS13 can be classified as Green.
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Gene: adamts13 has been classified as Green List (High Evidence).
Vascular skin disorders v0.17 FECH Catherine Snow Classified gene: FECH as Green List (high evidence)
Vascular skin disorders v0.17 FECH Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, FECH can be classified as Green.
Vascular skin disorders v0.17 FECH Catherine Snow Gene: fech has been classified as Green List (High Evidence).
Vascular skin disorders v0.16 CPOX Catherine Snow Classified gene: CPOX as Red List (low evidence)
Vascular skin disorders v0.16 CPOX Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPOX should be classified as Red.
Vascular skin disorders v0.16 CPOX Catherine Snow Gene: cpox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.15 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.15 PPOX Catherine Snow Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, PPOX should be classified as Red.
Vascular skin disorders v0.15 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.14 CPO Catherine Snow Classified gene: CPO as Red List (low evidence)
Vascular skin disorders v0.14 CPO Catherine Snow Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPO should be classified as Red.
Vascular skin disorders v0.14 CPO Catherine Snow Gene: cpo has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy - teen and adult v1.90 NEXN Ivone Leong Classified gene: NEXN as Red List (low evidence)
Hypertrophic cardiomyopathy - teen and adult v1.90 NEXN Ivone Leong Gene: nexn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy - teen and adult v1.89 MYLK2 Ivone Leong Publications for gene: MYLK2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy - teen and adult v1.88 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17, to Cardiomyopathy, familial hypertrophic 17 (613873)
Hypertrophic cardiomyopathy - teen and adult v1.87 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; Long QT syndrome; Brugada syndrome to Hypertrophic cardiomyopathy; Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005
Hypertrophic cardiomyopathy - teen and adult v1.86 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 24183960; doi:10.​1007/​s12265-016-9673-5
Hypertrophic cardiomyopathy - teen and adult v1.85 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Cardiomyopathy, dilated, 1AA, with or without LVNC 612158; Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Hypertrophic cardiomyopathy - teen and adult v1.84 ACTN2 Ivone Leong Publications for gene: ACTN2 were set to 25224718; 25173926; 20022194
Hypertrophic cardiomyopathy - teen and adult v1.83 TTR Ivone Leong Phenotypes for gene: TTR were changed from Cardiac amyloidosis to Cardiac amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210
Hypertrophic cardiomyopathy - teen and adult v1.82 FLNC Ivone Leong Publications for gene: FLNC were set to 25351925; 28356264; 30411535
Hypertrophic cardiomyopathy - teen and adult v1.81 NEXN Ivone Leong reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 VCL Ivone Leong reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 MYLK2 Ivone Leong reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 JPH2 Ivone Leong reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 FLNC Ivone Leong edited their review of gene: FLNC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy - teen and adult v1.81 FHOD3 Ivone Leong reviewed gene: FHOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 TTR Ivone Leong reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 TNNI3 Ivone Leong edited their review of gene: TNNI3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy - teen and adult v1.81 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 MYL3 Ivone Leong reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 MYL2 Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 MYBPC3 Ivone Leong edited their review of gene: MYBPC3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy - teen and adult v1.81 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 GLA Ivone Leong edited their review of gene: GLA: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy - teen and adult v1.81 FHL1 Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.81 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy - teen and adult v1.80 CACNA1C Ivone Leong Classified gene: CACNA1C as Amber List (moderate evidence)
Hypertrophic cardiomyopathy - teen and adult v1.80 CACNA1C Ivone Leong Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy - teen and adult v1.79 LZTR1 Ivone Leong Source Expert Review Red was added to LZTR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hypertrophic cardiomyopathy - teen and adult v1.79 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Congenital myaesthenic syndrome v1.75 SLC25A1 Louise Daugherty Classified gene: SLC25A1 as Green List (high evidence)
Congenital myaesthenic syndrome v1.75 SLC25A1 Louise Daugherty Added comment: Comment on list classification: Info from Tracy Lester: SLC25A1 – there is another case of CMS associated with this genes and a couple more reported in literature – can now be green on R80.
Congenital myaesthenic syndrome v1.75 SLC25A1 Louise Daugherty Gene: slc25a1 has been classified as Green List (High Evidence).
Congenital myaesthenic syndrome v1.74 TOR1AIP1 Louise Daugherty Classified gene: TOR1AIP1 as Amber List (moderate evidence)
Congenital myaesthenic syndrome v1.74 TOR1AIP1 Louise Daugherty Added comment: Comment on list classification: Info from Tracy Lester: TOR1AIP1 – should be amber on R80, not red, there is an unpublished case.
Congenital myaesthenic syndrome v1.74 TOR1AIP1 Louise Daugherty Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.73 SYT15 Louise Daugherty Classified gene: SYT15 as Red List (low evidence)
Congenital myaesthenic syndrome v1.73 SYT15 Louise Daugherty Gene: syt15 has been classified as Red List (Low Evidence).
Congenital myaesthenic syndrome v1.72 SYT15 Louise Daugherty Classified gene: SYT15 as Amber List (moderate evidence)
Congenital myaesthenic syndrome v1.72 SYT15 Louise Daugherty Added comment: Comment on list classification: Info from Tracy Lester : SYT15 – should be red on R80, not amber. No in-house cases as yet.
Congenital myaesthenic syndrome v1.72 SYT15 Louise Daugherty Gene: syt15 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1135 TMX2 Rebecca Foulger Classified gene: TMX2 as Green List (high evidence)
Intellectual disability v2.1135 TMX2 Rebecca Foulger Added comment: Comment on list classification: Promoted TMX2 from Amber to Green to match Green review by Ivone Leong and new evidence from Konstantinos Varvagiannis.
Intellectual disability v2.1135 TMX2 Rebecca Foulger Gene: tmx2 has been classified as Green List (High Evidence).
Progressive cardiac conduction disease v0.44 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from PROGRESSIVE FAMILIAL HEART BLOCK, to Progressive familial heart block, type IB 604559
Progressive cardiac conduction disease v0.43 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725
Fetal anomalies v0.371 BICD2 Rebecca Foulger Classified gene: BICD2 as Green List (high evidence)
Fetal anomalies v0.371 BICD2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on external review highlighting literature evidence of fetal phenotypes, and agreement from Lyn Chitty and Rhiannon Mellis (Great Ormond Street Hospital).
Fetal anomalies v0.371 BICD2 Rebecca Foulger Gene: bicd2 has been classified as Green List (High Evidence).
Progressive cardiac conduction disease v0.42 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome 142900
Progressive cardiac conduction disease v0.41 TBX5 Ivone Leong Publications for gene: TBX5 were set to
Progressive cardiac conduction disease v0.40 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from to Cardiac conduction defect, nonspecific 612838
Progressive cardiac conduction disease v0.39 SCN1B Ivone Leong Publications for gene: SCN1B were set to
Progressive cardiac conduction disease v0.38 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects 108900
Progressive cardiac conduction disease v0.37 NKX2-5 Ivone Leong Publications for gene: NKX2-5 were set to
Progressive cardiac conduction disease v0.36 LAMP2 Ivone Leong Phenotypes for gene: LAMP2 were changed from to Danon disease, 300257
Progressive cardiac conduction disease v0.35 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from to Brugada syndrome 8 613123; Sick sinus syndrome 2 163800
Progressive cardiac conduction disease v0.34 HCN4 Ivone Leong Publications for gene: HCN4 were set to
Progressive cardiac conduction disease v0.33 GLA Ivone Leong Phenotypes for gene: GLA were changed from to Fabry disease, cardiac variant, 301500
Progressive cardiac conduction disease v0.32 EMD Ivone Leong Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Progressive cardiac conduction disease v0.31 EMD Ivone Leong Publications for gene: EMD were set to
Progressive cardiac conduction disease v0.30 TTR Ivone Leong reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TRPM4 Ivone Leong reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TBX5 Ivone Leong reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 TBX3 Ivone Leong reviewed gene: TBX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 SCN1B Ivone Leong reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 KCNK17 Ivone Leong reviewed gene: KCNK17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 HCN4 Ivone Leong reviewed gene: HCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 GLA Ivone Leong reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 GJA5 Ivone Leong reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 FLNC Ivone Leong reviewed gene: FLNC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 EMD Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 CLCA2 Ivone Leong reviewed gene: CLCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 ANK2 Ivone Leong reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.30 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.29 FLNC Ivone Leong gene: FLNC was added
gene: FLNC was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 ACTN2 Ivone Leong gene: ACTN2 was added
gene: ACTN2 was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 CLCA2 Ivone Leong gene: CLCA2 was added
gene: CLCA2 was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 SCN1B Ivone Leong Source Expert Review Amber was added to SCN1B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Progressive cardiac conduction disease v0.29 TTR Ivone Leong gene: TTR was added
gene: TTR was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.29 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Progressive cardiac conduction disease v0.29 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Progressive cardiac conduction disease v0.29 DES Ivone Leong Source Expert Review Green was added to DES.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 PRKAG2 Ivone Leong Source Expert Review Green was added to PRKAG2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 LMNA Ivone Leong Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.29 SCN5A Ivone Leong Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v2.1134 TMX2 Ivone Leong edited their review of gene: TMX2: Added comment: Based on the new evidence submitted from the expert reviewer, there is now enough evidence to promote this gene to Green status.; Changed rating: GREEN
Intellectual disability v2.1134 CNOT3 Konstantinos Varvagiannis reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 31201375, 24121232; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genetic epilepsy syndromes v1.497 OXR1 Konstantinos Varvagiannis gene: OXR1 was added
gene: OXR1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to https://doi.org/10.1016/j.ajhg.2019.11.002
Phenotypes for gene: OXR1 were set to Central hypotonia; Global developmental delay; Delayed speech and language development; Intellectual disability; Seizures; Abnormality of the cerebellum
Penetrance for gene: OXR1 were set to Complete
Review for gene: OXR1 was set to GREEN
Added comment: Wang et al (2019 - https://doi.org/10.1016/j.ajhg.2019.11.002 ) report on 5 individuals (from 3 families) with biallelic OXR1 LoF variants.

Common features included hypotonia (4/5), severe global DD (5/5) and speech delay (5/5), ID (5/5), epilepsy (5/5) with cerebellar dysplasia/atrophy (5/5) and in some scoliosis.

All were investigated by exome sequencing and were found to harbor biallelic loss-of-function variants (2 splice-site, a stopgain and a frameshift one) either in homozygosity (2 consanguineous families) or in compound heterozygosity. In all cases parental segregation studies were compatible and in one family, an unaffected sib shown to be carrier.

Althouhgh OXR1 has been shown to affect several processes (among others DNA lesions induced by oxidative stress in E.coli, neuronal maintenance, mitochondrial morphology and DNA maintenance, etc), its mechanism of action is still not well defined. There are 6 RefSeq transcripts, the longest (NM_018002.3) encoding 3 protein domains (LysM, GRAM, TLDc). The TLDc domain is encoded by all transcripts.

Identified variants affected (probably all - fig1D) transcripts expressed in the CNS, namely NM_018002.3, NM_001198532.1, NM_181354.4. The 3 transcripts not expressed in the CNS are NM_001198533.1, NM_001198534.1 and NM_001198535.1.

Western blot with 2 different antibodies which would bind upstream of the truncation site failed to detect presence of truncated proteins in 2 affected individuals from 2 families.

The Drosophila homolog of OXR is mustard (mtd). The authors provide evidence that loss of mtd is lethal. This was however rescued by expression of an 80kb fly BAC clone covering mtd, or the fly mtd-RH isoform cDNA, or a short human OXR1 cDNA containing only the TLDc domain or a human NCOA7 cDNA. The latter is another human mtd homolog which also contains the TLDc domain. As a result the TLDc domain compensated sufficiently for loss of mtd.

Flies that survived displayed bang sensitivity and climbing defects the former assay being suggestive of susceptibility to seizures and the latter of impaired neurological/muscular function.

The authors provided evidence that mtd is broadly expressed in the fly CNS. RNAi mediated mtd knockdown specific to neurons (elav/nSyb-GAL4 expression of mtd RNAi) led to lethal eclosion defects for RNAis targeting most (18)/all(23) mtd isoforms. Lifespan was increased upon expression of human OXR1 cDNA. Neuronal loss and vacuolization was demonstrated and additional experiments in R7 photoreceptors showed presence of aberrant lysosomal structures (autolysosomes, autophagosomes and/or endolysosomes).

Aberrant lysosomal structures were also observed in fibroblasts from affected individuals (accumulation of lysosomes and/or presence of highly aberrant compartments with content typical of lysosomal dysfunction).

Overall the data presented suggest a critical role for OXR1 in lysosomal biology.

Although previous reports suggested that OXR1 is involved in oxidative stress resistance, studies performed by the authors suggested that oxidative stress is probably not the driver of the mutant fly defects.
Sources: Literature
Intellectual disability v2.1134 OXR1 Konstantinos Varvagiannis gene: OXR1 was added
gene: OXR1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to https://doi.org/10.1016/j.ajhg.2019.11.002
Phenotypes for gene: OXR1 were set to Central hypotonia; Global developmental delay; Delayed speech and language development; Intellectual disability; Seizures; Abnormality of the cerebellum
Penetrance for gene: OXR1 were set to Complete
Review for gene: OXR1 was set to GREEN
Added comment: Wang et al (2019 - https://doi.org/10.1016/j.ajhg.2019.11.002 ) report on 5 individuals (from 3 families) with biallelic OXR1 LoF variants.

Common features included hypotonia (4/5), severe global DD (5/5) and speech delay (5/5), ID (5/5), epilepsy (5/5) with cerebellar dysplasia/atrophy (5/5) and in some scoliosis.

All were investigated by exome sequencing and were found to harbor biallelic loss-of-function variants (2 splice-site, a stopgain and a frameshift one) either in homozygosity (2 consanguineous families) or in compound heterozygosity. In all cases parental segregation studies were compatible and in one family, an unaffected sib shown to be carrier.

Althouhgh OXR1 has been shown to affect several processes (among others DNA lesions induced by oxidative stress in E.coli, neuronal maintenance, mitochondrial morphology and DNA maintenance, etc), its mechanism of action is still not well defined. There are 6 RefSeq transcripts, the longest (NM_018002.3) encoding 3 protein domains (LysM, GRAM, TLDc). The TLDc domain is encoded by all transcripts.

Identified variants affected (probably all - fig1D) transcripts expressed in the CNS, namely NM_018002.3, NM_001198532.1, NM_181354.4. The 3 transcripts not expressed in the CNS are NM_001198533.1, NM_001198534.1 and NM_001198535.1.

Western blot with 2 different antibodies which would bind upstream of the truncation site failed to detect presence of truncated proteins in 2 affected individuals from 2 families.

The Drosophila homolog of OXR is mustard (mtd). The authors provide evidence that loss of mtd is lethal. This was however rescued by expression of an 80kb fly BAC clone covering mtd, or the fly mtd-RH isoform cDNA, or a short human OXR1 cDNA containing only the TLDc domain or a human NCOA7 cDNA. The latter is another human mtd homolog which also contains the TLDc domain. As a result the TLDc domain compensated sufficiently for loss of mtd.

Flies that survived displayed bang sensitivity and climbing defects the former assay being suggestive of susceptibility to seizures and the latter of impaired neurological/muscular function.

The authors provided evidence that mtd is broadly expressed in the fly CNS. RNAi mediated mtd knockdown specific to neurons (elav/nSyb-GAL4 expression of mtd RNAi) led to lethal eclosion defects for RNAis targeting most (18)/all(23) mtd isoforms. Lifespan was increased upon expression of human OXR1 cDNA. Neuronal loss and vacuolization was demonstrated and additional experiments in R7 photoreceptors showed presence of aberrant lysosomal structures (autolysosomes, autophagosomes and/or endolysosomes).

Aberrant lysosomal structures were also observed in fibroblasts from affected individuals (accumulation of lysosomes and/or presence of highly aberrant compartments with content typical of lysosomal dysfunction).

Overall the data presented suggest a critical role for OXR1 in lysosomal biology.

Although previous reports suggested that OXR1 is involved in oxidative stress resistance, studies performed by the authors suggested that oxidative stress is probably not the driver of the mutant fly defects.
Sources: Literature
Cerebral vascular malformations v1.68 TGFBR2 Louise Daugherty Source Expert Review Red was added to TGFBR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 TGFBR1 Louise Daugherty Source Expert Review Red was added to TGFBR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 TGFB2 Louise Daugherty Source Expert Review Red was added to TGFB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 SMAD3 Louise Daugherty Source Expert Review Red was added to SMAD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 NOTCH3 Louise Daugherty Source Expert Review Red was added to NOTCH3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 JAG1 Louise Daugherty Source Expert Review Red was added to JAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 ELN Louise Daugherty Source Expert Review Red was added to ELN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 THSD1 Louise Daugherty Source Expert Review Amber was added to THSD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PKD2 Louise Daugherty Source Expert Review Amber was added to PKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PKD1 Louise Daugherty Source Expert Review Amber was added to PKD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PCNT Louise Daugherty Source Expert Review Amber was added to PCNT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 HBB Louise Daugherty Source Expert Review Amber was added to HBB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 FLVCR2 Louise Daugherty Source Expert Review Amber was added to FLVCR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 CEP152 Louise Daugherty Source Expert Review Amber was added to CEP152.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 ATR Louise Daugherty Source Expert Review Amber was added to ATR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 ADA2 Louise Daugherty Source Expert Review Amber was added to ADA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 NF1 Louise Daugherty Source Expert Review Amber was added to NF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 RNF213 Louise Daugherty Source Expert Review Green was added to RNF213.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cerebral vascular malformations v1.67 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 TGFB2 Louise Daugherty reviewed gene: TGFB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SMAD3 Louise Daugherty reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 JAG1 Louise Daugherty reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ELN Louise Daugherty reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 GDF2 Louise Daugherty reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 THSD1 Louise Daugherty reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PKD2 Louise Daugherty reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PKD1 Louise Daugherty edited their review of gene: PKD1: Added comment: Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - amber in view of vascular malformations seen not aligning with the intended clinical scope of this panel; Changed rating: AMBER
Cerebral vascular malformations v1.67 PCNT Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 HBB Louise Daugherty reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 CEP152 Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ATR Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ADA2 Louise Daugherty edited their review of gene: ADA2: Changed rating: AMBER
Cerebral vascular malformations v1.67 NF1 Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 RNF213 Louise Daugherty reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SLC2A10 Louise Daugherty reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SAMHD1 Louise Daugherty reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 RASA1 Louise Daugherty reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PDCD10 Louise Daugherty reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 KRIT1 Louise Daugherty reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 GUCY1A3 Louise Daugherty edited their review of gene: GUCY1A3: Added comment: Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green rating; Changed rating: GREEN
Cerebral vascular malformations v1.67 ENG Louise Daugherty reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 CCM2 Louise Daugherty reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty changed review comment from: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.67 CBL Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence; to: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence.
Cerebral vascular malformations v1.67 CBL Louise Daugherty changed review comment from: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.67 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: GREEN
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty changed review comment from: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence ; to: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: GREEN
Cerebral vascular malformations v1.67 WDR62 Louise Daugherty Source Yorkshire and North East GLH was added to WDR62.
Cerebral vascular malformations v1.67 VLDLR Louise Daugherty Source Yorkshire and North East GLH was added to VLDLR.
Cerebral vascular malformations v1.67 TUBG1 Louise Daugherty Source Yorkshire and North East GLH was added to TUBG1.
Cerebral vascular malformations v1.67 TUBB3 Louise Daugherty Source Yorkshire and North East GLH was added to TUBB3.
Cerebral vascular malformations v1.67 TUBB2B Louise Daugherty Source Yorkshire and North East GLH was added to TUBB2B.
Cerebral vascular malformations v1.67 TUBB2A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB2A.
Cerebral vascular malformations v1.67 TUBB Louise Daugherty Source Yorkshire and North East GLH was added to TUBB.
Cerebral vascular malformations v1.67 TUBA8 Louise Daugherty Source Yorkshire and North East GLH was added to TUBA8.
Cerebral vascular malformations v1.67 TUBA1A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA1A.
Cerebral vascular malformations v1.67 TRAIP Louise Daugherty Source Yorkshire and North East GLH was added to TRAIP.
Cerebral vascular malformations v1.67 TMEM5 Louise Daugherty Source Yorkshire and North East GLH was added to TMEM5.
Cerebral vascular malformations v1.67 TEK Louise Daugherty Source Yorkshire and North East GLH was added to TEK.
Cerebral vascular malformations v1.67 STAMBP Louise Daugherty Source Yorkshire and North East GLH was added to STAMBP.
Cerebral vascular malformations v1.67 SRPX2 Louise Daugherty Source Yorkshire and North East GLH was added to SRPX2.
Cerebral vascular malformations v1.67 SMARCAL1 Louise Daugherty Source Yorkshire and North East GLH was added to SMARCAL1.
Cerebral vascular malformations v1.67 RTTN Louise Daugherty Source Yorkshire and North East GLH was added to RTTN.
Cerebral vascular malformations v1.67 RNF213 Louise Daugherty Source Yorkshire and North East GLH was added to RNF213.
Cerebral vascular malformations v1.67 RELN Louise Daugherty Source Yorkshire and North East GLH was added to RELN.
Cerebral vascular malformations v1.67 RBBP8 Louise Daugherty Source Yorkshire and North East GLH was added to RBBP8.
Cerebral vascular malformations v1.67 PTEN Louise Daugherty Source Yorkshire and North East GLH was added to PTEN.
Cerebral vascular malformations v1.67 POMT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMT2.
Cerebral vascular malformations v1.67 POMT1 Louise Daugherty Source Yorkshire and North East GLH was added to POMT1.
Cerebral vascular malformations v1.67 POMGNT1 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT1.
Cerebral vascular malformations v1.67 PIK3R2 Louise Daugherty Source Yorkshire and North East GLH was added to PIK3R2.
Cerebral vascular malformations v1.67 PIK3CA Louise Daugherty Source Yorkshire and North East GLH was added to PIK3CA.
Cerebral vascular malformations v1.67 PAFAH1B1 Louise Daugherty Source Yorkshire and North East GLH was added to PAFAH1B1.
Cerebral vascular malformations v1.67 OPHN1 Louise Daugherty Source Yorkshire and North East GLH was added to OPHN1.
Cerebral vascular malformations v1.67 OCLN Louise Daugherty Source Yorkshire and North East GLH was added to OCLN.
Cerebral vascular malformations v1.67 NIN Louise Daugherty Source Yorkshire and North East GLH was added to NIN.
Cerebral vascular malformations v1.67 NDE1 Louise Daugherty Source Yorkshire and North East GLH was added to NDE1.
Cerebral vascular malformations v1.67 MEF2C Louise Daugherty Source Yorkshire and North East GLH was added to MEF2C.
Cerebral vascular malformations v1.67 LARGE1 Louise Daugherty Source Yorkshire and North East GLH was added to LARGE1.
Cerebral vascular malformations v1.67 LAMC3 Louise Daugherty Source Yorkshire and North East GLH was added to LAMC3.
Cerebral vascular malformations v1.67 LAMB1 Louise Daugherty Source Yorkshire and North East GLH was added to LAMB1.
Cerebral vascular malformations v1.67 KDR Louise Daugherty Source Yorkshire and North East GLH was added to KDR.
Cerebral vascular malformations v1.67 IL6 Louise Daugherty Source Yorkshire and North East GLH was added to IL6.
Cerebral vascular malformations v1.67 HTRA1 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA1.
Cerebral vascular malformations v1.67 HLA-DRB1 Louise Daugherty Source Yorkshire and North East GLH was added to HLA-DRB1.
Cerebral vascular malformations v1.67 HLA-DQB1 Louise Daugherty Source Yorkshire and North East GLH was added to HLA-DQB1.
Cerebral vascular malformations v1.67 HLA-B Louise Daugherty Source Yorkshire and North East GLH was added to HLA-B.
Cerebral vascular malformations v1.67 GNAQ Louise Daugherty Source Yorkshire and North East GLH was added to GNAQ.
Cerebral vascular malformations v1.67 GLMN Louise Daugherty Source Yorkshire and North East GLH was added to GLMN.
Cerebral vascular malformations v1.67 GLA Louise Daugherty Source Yorkshire and North East GLH was added to GLA.
Cerebral vascular malformations v1.67 FOXF1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXF1.
Cerebral vascular malformations v1.67 FLT4 Louise Daugherty Source Yorkshire and North East GLH was added to FLT4.
Cerebral vascular malformations v1.67 FBN1 Louise Daugherty Source Yorkshire and North East GLH was added to FBN1.
Cerebral vascular malformations v1.67 DNA2 Louise Daugherty Source Yorkshire and North East GLH was added to DNA2.
Cerebral vascular malformations v1.67 DCX Louise Daugherty Source Yorkshire and North East GLH was added to DCX.
Cerebral vascular malformations v1.67 CTSA Louise Daugherty Source Yorkshire and North East GLH was added to CTSA.
Cerebral vascular malformations v1.67 CRB1 Louise Daugherty Source Yorkshire and North East GLH was added to CRB1.
Cerebral vascular malformations v1.67 COL4A2 Louise Daugherty Source Yorkshire and North East GLH was added to COL4A2.
Cerebral vascular malformations v1.67 COL4A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL4A1.
Cerebral vascular malformations v1.67 CEP63 Louise Daugherty Source Yorkshire and North East GLH was added to CEP63.
Cerebral vascular malformations v1.67 CENPJ Louise Daugherty Source Yorkshire and North East GLH was added to CENPJ.
Cerebral vascular malformations v1.67 BRCC3 Louise Daugherty Source Yorkshire and North East GLH was added to BRCC3.
Cerebral vascular malformations v1.67 ATP7A Louise Daugherty Source Yorkshire and North East GLH was added to ATP7A.
Cerebral vascular malformations v1.67 ARX Louise Daugherty Source Yorkshire and North East GLH was added to ARX.
Cerebral vascular malformations v1.67 ANTXR1 Louise Daugherty Source Yorkshire and North East GLH was added to ANTXR1.
Cerebral vascular malformations v1.67 ADGRG1 Louise Daugherty Source Yorkshire and North East GLH was added to ADGRG1.
Cerebral vascular malformations v1.67 ACE Louise Daugherty Source Yorkshire and North East GLH was added to ACE.
Cerebral vascular malformations v1.67 ABCC6 Louise Daugherty Source Yorkshire and North East GLH was added to ABCC6.
Cerebral vascular malformations v1.67 SMAD9 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD9.
Cerebral vascular malformations v1.67 MRVI1 Louise Daugherty Source Yorkshire and North East GLH was added to MRVI1.
Cerebral vascular malformations v1.67 GDF2 Louise Daugherty Source Yorkshire and North East GLH was added to GDF2.
Cerebral vascular malformations v1.67 EPHB4 Louise Daugherty Source Yorkshire and North East GLH was added to EPHB4.
Cerebral vascular malformations v1.67 YY1AP1 Louise Daugherty Source Yorkshire and North East GLH was added to YY1AP1.
Cerebral vascular malformations v1.67 THSD1 Louise Daugherty Source Yorkshire and North East GLH was added to THSD1.
Cerebral vascular malformations v1.67 TGFBR2 Louise Daugherty Source Yorkshire and North East GLH was added to TGFBR2.
Cerebral vascular malformations v1.67 TGFBR1 Louise Daugherty Source Yorkshire and North East GLH was added to TGFBR1.
Cerebral vascular malformations v1.67 TGFB2 Louise Daugherty Source Yorkshire and North East GLH was added to TGFB2.
Cerebral vascular malformations v1.67 SMAD4 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD4.
Cerebral vascular malformations v1.67 SMAD3 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD3.
Cerebral vascular malformations v1.67 SLC2A10 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A10.
Cerebral vascular malformations v1.67 SAMHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SAMHD1.
Cerebral vascular malformations v1.67 RASA1 Louise Daugherty Source Yorkshire and North East GLH was added to RASA1.
Cerebral vascular malformations v1.67 PKD2 Louise Daugherty Source Yorkshire and North East GLH was added to PKD2.
Cerebral vascular malformations v1.67 PKD1 Louise Daugherty Source Yorkshire and North East GLH was added to PKD1.
Cerebral vascular malformations v1.67 PDCD10 Louise Daugherty Source Yorkshire and North East GLH was added to PDCD10.
Cerebral vascular malformations v1.67 PCNT Louise Daugherty Source Yorkshire and North East GLH was added to PCNT.
Cerebral vascular malformations v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Cerebral vascular malformations v1.67 NF1 Louise Daugherty Source Yorkshire and North East GLH was added to NF1.
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty Source Yorkshire and North East GLH was added to MYH11.
Cerebral vascular malformations v1.67 KRIT1 Louise Daugherty Source Yorkshire and North East GLH was added to KRIT1.
Cerebral vascular malformations v1.67 JAG1 Louise Daugherty Source Yorkshire and North East GLH was added to JAG1.
Cerebral vascular malformations v1.67 HBB Louise Daugherty Source Yorkshire and North East GLH was added to HBB.
Cerebral vascular malformations v1.67 GUCY1A3 Louise Daugherty Source Yorkshire and North East GLH was added to GUCY1A3.
Cerebral vascular malformations v1.67 FLVCR2 Louise Daugherty Source Yorkshire and North East GLH was added to FLVCR2.
Cerebral vascular malformations v1.67 ENG Louise Daugherty Source Yorkshire and North East GLH was added to ENG.
Cerebral vascular malformations v1.67 ELN Louise Daugherty Source Yorkshire and North East GLH was added to ELN.
Cerebral vascular malformations v1.67 COL3A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL3A1.
Cerebral vascular malformations v1.67 CEP152 Louise Daugherty Source Yorkshire and North East GLH was added to CEP152.
Cerebral vascular malformations v1.67 CCM2 Louise Daugherty Source Yorkshire and North East GLH was added to CCM2.
Cerebral vascular malformations v1.67 CBL Louise Daugherty Source Yorkshire and North East GLH was added to CBL.
Cerebral vascular malformations v1.67 ATR Louise Daugherty Source Yorkshire and North East GLH was added to ATR.
Cerebral vascular malformations v1.67 ADA2 Louise Daugherty Source Yorkshire and North East GLH was added to ADA2.
Cerebral vascular malformations v1.67 ACVRL1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVRL1.
Cerebral vascular malformations v1.67 ACTA2 Louise Daugherty Source Yorkshire and North East GLH was added to ACTA2.
Cerebral vascular malformations v1.66 CBL Louise Daugherty Classified gene: CBL as Amber List (moderate evidence)
Cerebral vascular malformations v1.66 CBL Louise Daugherty Gene: cbl has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.65 CBL Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.65 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
Cerebral vascular malformations v1.65 CBL Louise Daugherty changed review comment from: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.65 WDR62 Louise Daugherty Source NHS GMS was added to WDR62.
Cerebral vascular malformations v1.65 VLDLR Louise Daugherty Source NHS GMS was added to VLDLR.
Cerebral vascular malformations v1.65 TUBG1 Louise Daugherty Source NHS GMS was added to TUBG1.
Cerebral vascular malformations v1.65 TUBB3 Louise Daugherty Source NHS GMS was added to TUBB3.
Cerebral vascular malformations v1.65 TUBB2B Louise Daugherty Source NHS GMS was added to TUBB2B.
Cerebral vascular malformations v1.65 TUBB2A Louise Daugherty Source NHS GMS was added to TUBB2A.
Cerebral vascular malformations v1.65 TUBB Louise Daugherty Source NHS GMS was added to TUBB.
Cerebral vascular malformations v1.65 TUBA8 Louise Daugherty Source NHS GMS was added to TUBA8.
Cerebral vascular malformations v1.65 TUBA1A Louise Daugherty Source NHS GMS was added to TUBA1A.
Cerebral vascular malformations v1.65 TRAIP Louise Daugherty Source NHS GMS was added to TRAIP.
Cerebral vascular malformations v1.65 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Cerebral vascular malformations v1.65 TEK Louise Daugherty Source NHS GMS was added to TEK.
Cerebral vascular malformations v1.65 STAMBP Louise Daugherty Source NHS GMS was added to STAMBP.
Cerebral vascular malformations v1.65 SRPX2 Louise Daugherty Source NHS GMS was added to SRPX2.
Cerebral vascular malformations v1.65 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Cerebral vascular malformations v1.65 RTTN Louise Daugherty Source NHS GMS was added to RTTN.
Cerebral vascular malformations v1.65 RNF213 Louise Daugherty Source NHS GMS was added to RNF213.
Cerebral vascular malformations v1.65 RELN Louise Daugherty Source NHS GMS was added to RELN.
Cerebral vascular malformations v1.65 RBBP8 Louise Daugherty Source NHS GMS was added to RBBP8.
Cerebral vascular malformations v1.65 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Cerebral vascular malformations v1.65 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Cerebral vascular malformations v1.65 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Cerebral vascular malformations v1.65 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Cerebral vascular malformations v1.65 PIK3R2 Louise Daugherty Source NHS GMS was added to PIK3R2.
Cerebral vascular malformations v1.65 PIK3CA Louise Daugherty Source NHS GMS was added to PIK3CA.
Cerebral vascular malformations v1.65 PAFAH1B1 Louise Daugherty Source NHS GMS was added to PAFAH1B1.
Cerebral vascular malformations v1.65 OPHN1 Louise Daugherty Source NHS GMS was added to OPHN1.
Cerebral vascular malformations v1.65 OCLN Louise Daugherty Source NHS GMS was added to OCLN.
Cerebral vascular malformations v1.65 NIN Louise Daugherty Source NHS GMS was added to NIN.
Cerebral vascular malformations v1.65 NDE1 Louise Daugherty Source NHS GMS was added to NDE1.
Cerebral vascular malformations v1.65 MEF2C Louise Daugherty Source NHS GMS was added to MEF2C.
Cerebral vascular malformations v1.65 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Cerebral vascular malformations v1.65 LAMC3 Louise Daugherty Source NHS GMS was added to LAMC3.
Cerebral vascular malformations v1.65 LAMB1 Louise Daugherty Source NHS GMS was added to LAMB1.
Cerebral vascular malformations v1.65 KDR Louise Daugherty Source NHS GMS was added to KDR.
Cerebral vascular malformations v1.65 IL6 Louise Daugherty Source NHS GMS was added to IL6.
Cerebral vascular malformations v1.65 HTRA1 Louise Daugherty Source NHS GMS was added to HTRA1.
Cerebral vascular malformations v1.65 HLA-DRB1 Louise Daugherty Source NHS GMS was added to HLA-DRB1.
Cerebral vascular malformations v1.65 HLA-DQB1 Louise Daugherty Source NHS GMS was added to HLA-DQB1.
Cerebral vascular malformations v1.65 HLA-B Louise Daugherty Source NHS GMS was added to HLA-B.
Cerebral vascular malformations v1.65 GNAQ Louise Daugherty Source NHS GMS was added to GNAQ.
Cerebral vascular malformations v1.65 GLMN Louise Daugherty Source NHS GMS was added to GLMN.
Cerebral vascular malformations v1.65 GLA Louise Daugherty Source NHS GMS was added to GLA.
Cerebral vascular malformations v1.65 FOXF1 Louise Daugherty Source NHS GMS was added to FOXF1.
Cerebral vascular malformations v1.65 FLT4 Louise Daugherty Source NHS GMS was added to FLT4.
Cerebral vascular malformations v1.65 FBN1 Louise Daugherty Source NHS GMS was added to FBN1.
Cerebral vascular malformations v1.65 DNA2 Louise Daugherty Source NHS GMS was added to DNA2.
Cerebral vascular malformations v1.65 DCX Louise Daugherty Source NHS GMS was added to DCX.
Cerebral vascular malformations v1.65 CTSA Louise Daugherty Source NHS GMS was added to CTSA.
Cerebral vascular malformations v1.65 CRB1 Louise Daugherty Source NHS GMS was added to CRB1.
Cerebral vascular malformations v1.65 COL4A2 Louise Daugherty Source NHS GMS was added to COL4A2.
Cerebral vascular malformations v1.65 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Cerebral vascular malformations v1.65 CEP63 Louise Daugherty Source NHS GMS was added to CEP63.
Cerebral vascular malformations v1.65 CENPJ Louise Daugherty Source NHS GMS was added to CENPJ.
Cerebral vascular malformations v1.65 BRCC3 Louise Daugherty Source NHS GMS was added to BRCC3.
Cerebral vascular malformations v1.65 ATP7A Louise Daugherty Source NHS GMS was added to ATP7A.
Cerebral vascular malformations v1.65 ARX Louise Daugherty Source NHS GMS was added to ARX.
Cerebral vascular malformations v1.65 ANTXR1 Louise Daugherty Source NHS GMS was added to ANTXR1.
Cerebral vascular malformations v1.65 ADGRG1 Louise Daugherty Source NHS GMS was added to ADGRG1.
Cerebral vascular malformations v1.65 ACE Louise Daugherty Source NHS GMS was added to ACE.
Cerebral vascular malformations v1.65 ABCC6 Louise Daugherty Source NHS GMS was added to ABCC6.
Cerebral vascular malformations v1.65 SMAD9 Louise Daugherty Source NHS GMS was added to SMAD9.
Cerebral vascular malformations v1.65 MRVI1 Louise Daugherty Source NHS GMS was added to MRVI1.
Cerebral vascular malformations v1.65 GDF2 Louise Daugherty Source NHS GMS was added to GDF2.
Cerebral vascular malformations v1.65 EPHB4 Louise Daugherty Source NHS GMS was added to EPHB4.
Cerebral vascular malformations v1.65 YY1AP1 Louise Daugherty Source NHS GMS was added to YY1AP1.
Cerebral vascular malformations v1.65 THSD1 Louise Daugherty Source NHS GMS was added to THSD1.
Cerebral vascular malformations v1.65 TGFBR2 Louise Daugherty Source NHS GMS was added to TGFBR2.
Cerebral vascular malformations v1.65 TGFBR1 Louise Daugherty Source NHS GMS was added to TGFBR1.
Cerebral vascular malformations v1.65 TGFB2 Louise Daugherty Source NHS GMS was added to TGFB2.
Cerebral vascular malformations v1.65 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Cerebral vascular malformations v1.65 SMAD3 Louise Daugherty Source NHS GMS was added to SMAD3.
Cerebral vascular malformations v1.65 SLC2A10 Louise Daugherty Source NHS GMS was added to SLC2A10.
Cerebral vascular malformations v1.65 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Cerebral vascular malformations v1.65 RASA1 Louise Daugherty Source NHS GMS was added to RASA1.
Cerebral vascular malformations v1.65 PKD2 Louise Daugherty Source NHS GMS was added to PKD2.
Cerebral vascular malformations v1.65 PKD1 Louise Daugherty Source NHS GMS was added to PKD1.
Cerebral vascular malformations v1.65 PDCD10 Louise Daugherty Source NHS GMS was added to PDCD10.
Cerebral vascular malformations v1.65 PCNT Louise Daugherty Source NHS GMS was added to PCNT.
Cerebral vascular malformations v1.65 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Cerebral vascular malformations v1.65 NF1 Louise Daugherty Source NHS GMS was added to NF1.
Cerebral vascular malformations v1.65 MYH11 Louise Daugherty Source NHS GMS was added to MYH11.
Cerebral vascular malformations v1.65 KRIT1 Louise Daugherty Source NHS GMS was added to KRIT1.
Cerebral vascular malformations v1.65 JAG1 Louise Daugherty Source NHS GMS was added to JAG1.
Cerebral vascular malformations v1.65 HBB Louise Daugherty Source NHS GMS was added to HBB.
Cerebral vascular malformations v1.65 GUCY1A3 Louise Daugherty Source NHS GMS was added to GUCY1A3.
Cerebral vascular malformations v1.65 FLVCR2 Louise Daugherty Source NHS GMS was added to FLVCR2.
Cerebral vascular malformations v1.65 ENG Louise Daugherty Source NHS GMS was added to ENG.
Cerebral vascular malformations v1.65 ELN Louise Daugherty Source NHS GMS was added to ELN.
Cerebral vascular malformations v1.65 COL3A1 Louise Daugherty Source NHS GMS was added to COL3A1.
Cerebral vascular malformations v1.65 CEP152 Louise Daugherty Source NHS GMS was added to CEP152.
Cerebral vascular malformations v1.65 CCM2 Louise Daugherty Source NHS GMS was added to CCM2.
Cerebral vascular malformations v1.65 CBL Louise Daugherty Source NHS GMS was added to CBL.
Cerebral vascular malformations v1.65 ATR Louise Daugherty Source NHS GMS was added to ATR.
Cerebral vascular malformations v1.65 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Cerebral vascular malformations v1.65 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Cerebral vascular malformations v1.65 ACTA2 Louise Daugherty Source NHS GMS was added to ACTA2.
Cerebral vascular malformations v1.64 MYH11 Louise Daugherty Classified gene: MYH11 as Amber List (moderate evidence)
Cerebral vascular malformations v1.64 MYH11 Louise Daugherty Gene: myh11 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty changed review comment from: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: AMBER
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty Classified gene: MYH11 as No list
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty Gene: myh11 has been removed from the panel.
Cerebral vascular malformations v1.62 SMAD9 Louise Daugherty Classified gene: SMAD9 as Amber List (moderate evidence)
Cerebral vascular malformations v1.62 SMAD9 Louise Daugherty Gene: smad9 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.61 SMAD9 Louise Daugherty commented on gene: SMAD9: New gene rated Amber- deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.61 SMAD9 Louise Daugherty gene: SMAD9 was added
gene: SMAD9 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: SMAD9 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 29844917 suggests one case with cerebral AVMs and a supportive animal model - currently rated amber pending further evidence
Sources: Expert list
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Classified gene: EPHB4 as Amber List (moderate evidence)
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Added comment: Comment on list classification: New Amber gene - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.59 EPHB4 Louise Daugherty commented on gene: EPHB4: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.59 EPHB4 Louise Daugherty gene: EPHB4 was added
gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196
Review for gene: EPHB4 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 28687708 suggests that 3/110 patients had CNS lesions - therefore rated as amber pending further evidence
Sources: Expert list
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty commented on gene: MRVI1: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 YY1AP1 Louise Daugherty commented on gene: YY1AP1: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 CBL Louise Daugherty commented on gene: CBL: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 MYH11 Louise Daugherty commented on gene: MYH11: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 CTSA Louise Daugherty commented on gene: CTSA: New gene rated Red - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty Classified gene: MRVI1 as Amber List (moderate evidence)
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty Added comment: Comment on list classification: New gene rated Amber- this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty Gene: mrvi1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.57 MRVI1 Louise Daugherty gene: MRVI1 was added
gene: MRVI1 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: MRVI1 was set to Unknown
Review for gene: MRVI1 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): evidence emerging of potential risk factor for Moya-Moya within NF1 patients.
Sources: Expert list
Cerebral vascular malformations v1.56 YY1AP1 Louise Daugherty Classified gene: YY1AP1 as Green List (high evidence)
Cerebral vascular malformations v1.56 YY1AP1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.56 YY1AP1 Louise Daugherty Gene: yy1ap1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v1.55 YY1AP1 Louise Daugherty gene: YY1AP1 was added
gene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YY1AP1 were set to Grange syndrome, 602531
Review for gene: YY1AP1 was set to GREEN
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): considered relevant for this panel.
Sources: Expert list
Cerebral vascular malformations v1.54 CBL Louise Daugherty Classified gene: CBL as Green List (high evidence)
Cerebral vascular malformations v1.54 CBL Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.54 CBL Louise Daugherty Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v1.53 CBL Louise Daugherty reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.53 CBL Louise Daugherty Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Cerebral vascular malformations v1.52 MYH11 Louise Daugherty Classified gene: MYH11 as Green List (high evidence)
Cerebral vascular malformations v1.52 MYH11 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.52 MYH11 Louise Daugherty Gene: myh11 has been classified as Green List (High Evidence).
Cerebral vascular malformations v1.51 MYH11 Louise Daugherty edited their review of gene: MYH11: Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): multi-system vascular disease, green rating.; Changed rating: GREEN
Cerebral vascular malformations v1.51 MYH11 Louise Daugherty Phenotypes for gene: MYH11 were changed from moyamoya-like angiopathy to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900
Cerebral vascular malformations v1.50 MYH11 Louise Daugherty Classified gene: MYH11 as Red List (low evidence)
Cerebral vascular malformations v1.50 MYH11 Louise Daugherty Added comment: Comment on list classification: added gene back to panel due to recent update as part of the GMS
Cerebral vascular malformations v1.50 MYH11 Louise Daugherty Gene: myh11 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v1.49 CTSA Louise Daugherty gene: CTSA was added
gene: CTSA was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: CTSA was set to Unknown
Review for gene: CTSA was set to RED
Added comment: Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panel
Sources: Expert list
Renal ciliopathies v1.0 PDE6D Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v0.7 PDE6D Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v0.11 PDE6D Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.121 PDE6D Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v1.141 PDE6D Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1134 PDE6D Ellen McDonagh Classified gene: PDE6D as Amber List (moderate evidence)
Intellectual disability v2.1134 PDE6D Ellen McDonagh Added comment: Comment on list classification: Gene added by external reviewer, and promoted to Amber due to one family and a recent additional case.
Intellectual disability v2.1134 PDE6D Ellen McDonagh Gene: pde6d has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v1.497 PCYT2 Ellen McDonagh reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1133 PCYT2 Ellen McDonagh Classified gene: PCYT2 as Green List (high evidence)
Intellectual disability v2.1133 PCYT2 Ellen McDonagh Added comment: Comment on list classification: This gene was added by an external reviewer and rated Green. This is currently Green on the Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the ID panel.
Intellectual disability v2.1133 PCYT2 Ellen McDonagh Gene: pcyt2 has been classified as Green List (High Evidence).
Arthrogryposis v2.108 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, 615290; autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to arthrogryposis multiplex congenita; Spinal muscular atrophy, lower extremity-predominant, 2A, 615290; autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Arthrogryposis v2.107 BICD2 Rebecca Foulger Classified gene: BICD2 as Green List (high evidence)
Arthrogryposis v2.107 BICD2 Rebecca Foulger Added comment: Comment on list classification: Promoted BICD2 from Red to Green based on recent literature evidence and Green review by Zerin Hyder (Genomics England Clinical Team). Sufficient unrelated cases of AMC for inclusion on panel.
Arthrogryposis v2.107 BICD2 Rebecca Foulger Gene: bicd2 has been classified as Green List (High Evidence).
Arthrogryposis v2.106 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to 28635954
Arthrogryposis v2.105 BICD2 Rebecca Foulger Mode of inheritance for gene: BICD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v2.104 BICD2 Zerin Hyder changed review comment from: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth . The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant.
PMID: 30054298. In 2 unrelated patients with muscular atrophy and arthrogryposis Koboldt et al. (2018) identified a de novo heterozygous c.1636_1638delAAT variant in the BICD2 gene. The mutation, which was found by whole-exome or whole-genome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but protein modeling indicated that the variant is within a region that interacts with the molecular kinesin motor and that the mutation would alter protein structure.; to: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth . The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic woman with subclinical findings with the previously described p.(Thr703Met) variant.
PMID: 30054298. In 2 unrelated patients with muscular atrophy and arthrogryposis Koboldt et al. (2018) identified a de novo heterozygous c.1636_1638delAAT variant in the BICD2 gene. The mutation, which was found by whole-exome or whole-genome sequencing and confirmed by Sanger sequencing, was not found in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed, but protein modeling indicated that the variant is within a region that interacts with the molecular kinesin motor and that the mutation would alter protein structure.
Arthrogryposis v2.104 BICD2 Zerin Hyder reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27751653, 29274205, 28635954, 30054298; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.370 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to 27751653; 29274205; 28635954
Fetal anomalies v0.369 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis; Pterygium
Fetal anomalies v0.368 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth. The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
Arthrogryposis v2.104 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to Spinal muscular atrophy, lower extremity-predominant, 2A, 615290; autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Arthrogryposis v2.103 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Arthrogryposis v2.102 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: OMIM Clinical Synopsis for MIM:618291 now mentions onset in Utero, including fractures in utero and decreased fetal movements, as noted by Rhiannon Mellis.
Limb disorders v1.141 EPHA4 Eleanor Williams changed review comment from: Comment on list classification: Rating this gene as amber for now. Deletion of a region including this gene has been reported in PMID: 25959774 - Lupiáñez et al 2015, however the mechanism for pathogenicity needs clarification.; to: Comment on list classification: Rating this gene as amber for now. Deletion of a region including this gene has been reported in PMID: 25959774 - Lupiáñez et al 2015, however the mechanism for pathogenicity and deliniating reigion needs clarification.
Fetal anomalies v0.367 BICD2 Rebecca Foulger Mode of pathogenicity for gene: BICD2 was changed from to Other
Fetal anomalies v0.366 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Fetal anomalies v0.365 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to
Arthrogryposis v2.101 TTN Rebecca Foulger changed review comment from: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.; to: Comment on mode of inheritance: With agreement from Zerin Hyder, changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.
Limb disorders v1.140 WDPCP Eleanor Williams Publications for gene: WDPCP were set to 25427950
Limb disorders v1.139 WDPCP Eleanor Williams Classified gene: WDPCP as Green List (high evidence)
Limb disorders v1.139 WDPCP Eleanor Williams Added comment: Comment on list classification: Promoting this gene to green. It has limited evidence in association with Bardet-Biedl syndrome 15, but there are 3 cases reported in association with Oral facial digital syndrome and plausible disease causing variants.
Limb disorders v1.139 WDPCP Eleanor Williams Gene: wdpcp has been classified as Green List (High Evidence).
Limb disorders v1.138 EPHA4 Eleanor Williams Classified gene: EPHA4 as Amber List (moderate evidence)
Limb disorders v1.138 EPHA4 Eleanor Williams Added comment: Comment on list classification: Rating this gene as amber for now. Deletion of a region including this gene has been reported in PMID: 25959774 - Lupiáñez et al 2015, however the mechanism for pathogenicity needs clarification.
Limb disorders v1.138 EPHA4 Eleanor Williams Gene: epha4 has been classified as Amber List (Moderate Evidence).
Limb disorders v1.137 EPHA4 Eleanor Williams commented on gene: EPHA4: A curation request has been submitted to Clingen regarding the regions of deletion, duplication and inversion around EPHA4 reported in PMID: 25959774 - Lupiáñez et al 2015.
Limb disorders v1.137 EPHA4 Eleanor Williams changed review comment from: EPHA4 not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 25959774 - Lupiáñez et al 2015 - studied limb abnormalities in 3 sets of families:
Group 1 - 3 unrelated families with a dominantly inherited novel type of brachydactyly, characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. aCGH revealed heterozygous deletions of 1.75–1.9 Mb on chromosome 2q35–36 in all three affected families. All three deletions include the EPHA4 gene along with a large portion of its surrounding TAD and extend into the non-coding part of the adjacent PAX3 TAD (topologically associated domain), thereby removing the predicted boundary between the EPHA4 and PAX3 TADs. Mutant mice with a deletion corresponding to the human disease alleles recapitulated the phenotype observed in patients.
Group 2 - 2 unrelated families with F-syndrome, a limb malformation syndrome characterized by severe and complex syndactyly, often involving the first and second fingers, and polydactyly of the feet. By whole genome sequencing they detected a ~1.1 Mb heterozygous inversion in family F1 and a ~1.4 Mb heterozygous duplication, arranged in direct tandem orientation, in family F2. The telomeric breakpoints were located 1.4 Mb away from the EPHA4 gene within the gene desert in the case of the inversion, and 1.2 Mb in the case of the duplication. Heterozygous as well as homozygous newborn mice generated via tetraploid aggregation died shortly after birth of unknown cause and did not show overt limb phenotypes or other morphological defects
Group 3 - a family that carries a heterozygous ~900 kb duplication in chromosomal region 2q35 that results in severe polysyndactyly and craniofacial abnormalities. The phenotype is reminiscent of the doublefoot (Dbf) mouse mutant, which also features massive polysyndactyly and was shown to be caused by a ~600 kb deletion affecting the same region (Babbs et al., 2008)
Using 4C-seq they show that In wild-type distal limbs, there was minimal interaction of Pax3, Wnt6 and Ihh with non-coding sequences in the Epha4 TAD. In contrast, all three genes showed substantial interaction with the Epha4 TAD in the mutants. Similar results were found using patient fibroblasts.

Genomic re-arrangements in the Epha4 TAD can result in limb abnormalities. It maybe best to represent these as regions of gain or loss in PanelApp; to: EPHA4 not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 25959774 - Lupiáñez et al 2015 - studied limb abnormalities in 3 sets of families:

Group 1 - 3 unrelated families with a dominantly inherited novel type of brachydactyly, characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. aCGH revealed heterozygous deletions of 1.75–1.9 Mb on chromosome 2q35–36 in all three affected families. All three deletions include the EPHA4 gene along with a large portion of its surrounding TAD and extend into the non-coding part of the adjacent PAX3 TAD (topologically associated domain), thereby removing the predicted boundary between the EPHA4 and PAX3 TADs. Mutant mice with a deletion corresponding to the human disease alleles recapitulated the phenotype observed in patients. They detected a significant upregulation of Pax3 in DelB/+ limbs in mice, and DelB/+ (brachydactyly-like deletion) mice showed strong misexpression of Pax3 in the distal anterior part of the autopod, in a pattern resembling endogenous Epha4 expression.

Group 2 - 2 unrelated families with F-syndrome, a limb malformation syndrome characterized by severe and complex syndactyly, often involving the first and second fingers, and polydactyly of the feet. By whole genome sequencing they detected a ~1.1 Mb heterozygous inversion in family F1 and a ~1.4 Mb heterozygous duplication, arranged in direct tandem orientation, in family F2. The telomeric breakpoints were located 1.4 Mb away from the EPHA4 gene within the gene desert in the case of the inversion, and 1.2 Mb in the case of the duplication. Heterozygous as well as homozygous newborn mice generated via tetraploid aggregation died shortly after birth of unknown cause and did not show overt limb phenotypes or other morphological defects

Group 3 - a family that carries a heterozygous ~900 kb duplication in chromosomal region 2q35 that results in severe polysyndactyly and craniofacial abnormalities. The phenotype is reminiscent of the doublefoot (Dbf) mouse mutant, which also features massive polysyndactyly and was shown to be caused by a ~600 kb deletion affecting the same region (Babbs et al., 2008)
Using 4C-seq they show that In wild-type distal limbs, there was minimal interaction of Pax3, Wnt6 and Ihh with non-coding sequences in the Epha4 TAD. In contrast, all three genes showed substantial interaction with the Epha4 TAD in the mutants. Similar results were found using patient fibroblasts.

Genomic re-arrangements in the Epha4 TAD can result in limb abnormalities. It maybe best to represent these as regions of gain or loss in PanelApp
Adult onset movement disorder v1.0 Louise Daugherty promoted panel to version 1.0
Adult onset movement disorder v0.131 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Limb disorders v1.137 SOX9 Eleanor Williams commented on gene: SOX9: The region upstream of SOX9 where duplications are assoicated with increased expression of KCNJ2 has been submitted to Clingen for review.
Hereditary ataxia - adult onset v2.0 Louise Daugherty promoted panel to version 2.0
Hereditary ataxia - adult onset v1.212 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Limb disorders v1.137 TRAF7 Eleanor Williams Tag missense tag was added to gene: TRAF7.
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Tag missense tag was added to gene: TRAF7.
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Classified gene: TRAF7 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Added comment: Comment on list classification: Rating this gene green as 6 cases reported with missense variants in this gene with heart defects.
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Gene: traf7 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.50 TRAF7 Eleanor Williams gene: TRAF7 was added
gene: TRAF7 was added to Familial non syndromic congenital heart disease. Sources: Literature
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay 618164
Review for gene: TRAF7 was set to GREEN
Added comment: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.

PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains. Prenatal histories were notable for antenatal detection of heart anomalies (n = 3), cystic hygroma (n = 2), and two-vessel cord (n = 2). Congenital heart defects were present in six of seven patients and ranged in type and severity
Sources: Literature
Limb disorders v1.137 WDPCP Eleanor Williams changed review comment from: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.; to: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants (a missense variant and 2bp deletion leading to a frameshift) in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.
Cerebral malformations v3.2 Ellen McDonagh Changed child panels to: Holoprosencephaly; Malformations of cortical development; Neurological segmental overgrowth
Skeletal muscle channelopathy v0.28 Louise Daugherty Panel name changed from Myotonia congenita to Skeletal muscle channelopathy
List of related panels changed from R76 to R76; Myotonia congenita
Limb girdle muscular dystrophy v1.184 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives. As this is digenic, this gene has been made Amber rather than Green and tagged 'digenic'.
Limb disorders v1.137 SDCCAG8 Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Limb disorders v1.136 SDCCAG8 Eleanor Williams Classified gene: SDCCAG8 as Red List (low evidence)
Limb disorders v1.136 SDCCAG8 Eleanor Williams Added comment: Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore changing the rating of this gene to red on the limb disorders panel.
Limb disorders v1.136 SDCCAG8 Eleanor Williams Gene: sdccag8 has been classified as Red List (Low Evidence).
Limb disorders v1.135 EIF4A3 Eleanor Williams changed review comment from: Comment on list classification: Relevant phenotype, however potential founder effect in the Brazilian population described to date. Further evidence needed therefore rating amber. Rating agreed with Genomics England clinical team.; to: Comment on list classification: Relevant phenotype, however potential founder effect in the Brazilian population described to date. The phenotype of the patient from England/Kenya is borderline for this panel. Further evidence needed therefore rating amber. Rating agreed with Genomics England clinical team.
Intellectual disability v2.1132 SVBP Rebecca Foulger Classified gene: SVBP as Green List (high evidence)
Intellectual disability v2.1132 SVBP Rebecca Foulger Added comment: Comment on list classification: Updated rating to Green to match Green review by Catherine Snow. Phenotypes include global DD and intellectual disability in >3 families.
Intellectual disability v2.1132 SVBP Rebecca Foulger Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability v2.1131 PNPT1 Rebecca Foulger commented on gene: PNPT1
Intellectual disability v2.1131 PNPT1 Rebecca Foulger Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 to Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934; developmental delay; intellectual disability
Intellectual disability v2.1131 PNPT1 Rebecca Foulger Publications for gene: PNPT1 were set to
Limb girdle muscular dystrophy v1.184 POMK Ellen McDonagh Classified gene: POMK as Red List (low evidence)
Limb girdle muscular dystrophy v1.184 POMK Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the overall reviews and comments from reviewers.
Limb girdle muscular dystrophy v1.184 POMK Ellen McDonagh Gene: pomk has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.183 POLG Ellen McDonagh Classified gene: POLG as Red List (low evidence)
Limb girdle muscular dystrophy v1.183 POLG Ellen McDonagh Added comment: Comment on list classification: This gene will be demoted to Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.183 POLG Ellen McDonagh Gene: polg has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.182 ACTA1 Ellen McDonagh Classified gene: ACTA1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.182 ACTA1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.182 ACTA1 Ellen McDonagh Gene: acta1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.181 AGL Ellen McDonagh Classified gene: AGL as Red List (low evidence)
Limb girdle muscular dystrophy v1.181 AGL Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.181 AGL Ellen McDonagh Gene: agl has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.180 ATP2A1 Ellen McDonagh Classified gene: ATP2A1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.180 ATP2A1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.180 ATP2A1 Ellen McDonagh Gene: atp2a1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.; to: Comment on list classification: This gene will remain Red due to overall majority of Red reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Classified gene: BVES as Red List (low evidence)
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Gene: bves has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.178 CHRND Ellen McDonagh Classified gene: CHRND as Red List (low evidence)
Limb girdle muscular dystrophy v1.178 CHRND Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.178 CHRND Ellen McDonagh Gene: chrnd has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.177 CLCN1 Ellen McDonagh Classified gene: CLCN1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.177 CLCN1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.177 CLCN1 Ellen McDonagh Gene: clcn1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.176 COL12A1 Ellen McDonagh Classified gene: COL12A1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.176 COL12A1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.176 COL12A1 Ellen McDonagh Gene: col12a1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.175 COLQ Ellen McDonagh Classified gene: COLQ as Red List (low evidence)
Limb girdle muscular dystrophy v1.175 COLQ Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.175 COLQ Ellen McDonagh Gene: colq has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.174 DNM2 Ellen McDonagh Classified gene: DNM2 as Red List (low evidence)
Limb girdle muscular dystrophy v1.174 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.174 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 DUX4 Ellen McDonagh Marked gene: DUX4 as ready
Limb girdle muscular dystrophy v1.173 DUX4 Ellen McDonagh Gene: dux4 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Marked gene: ETFDH as ready
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Classified gene: ETFDH as Red List (low evidence)
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Marked gene: GBE1 as ready
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Classified gene: GBE1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.171 GFPT1 Ellen McDonagh Classified gene: GFPT1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.171 GFPT1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.171 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.170 GFPT1 Ellen McDonagh Classified gene: GFPT1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.170 GFPT1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.170 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.169 GFPT1 Ellen McDonagh Marked gene: GFPT1 as ready
Limb girdle muscular dystrophy v1.169 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Marked gene: GYG1 as ready
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Gene: gyg1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Classified gene: GYG1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.169 GYG1 Ellen McDonagh Gene: gyg1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Marked gene: LIMS2 as ready
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Gene: lims2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Classified gene: LIMS2 as Red List (low evidence)
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on overall consensus of reviews and comments.
Limb girdle muscular dystrophy v1.168 LIMS2 Ellen McDonagh Gene: lims2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Marked gene: HNRNPDL as ready
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: Removed 'watchlist tag' as this has been made Green.
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Tag watchlist was removed from gene: HNRNPDL.
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.167 HNRNPDL Ellen McDonagh Mode of inheritance for gene: HNRNPDL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.166 HNRNPDL Ellen McDonagh Classified gene: HNRNPDL as Green List (high evidence)
Limb girdle muscular dystrophy v1.166 HNRNPDL Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to overall majority of Green reviews and clinical comments from GLH representatives. This gene seems to now be deemed a LGMD causative gene.
Limb girdle muscular dystrophy v1.166 HNRNPDL Ellen McDonagh Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.165 ACADVL Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.165 ACADVL Ellen McDonagh Mode of inheritance for gene: ACADVL was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.164 ACADVL Ellen McDonagh Classified gene: ACADVL as Green List (high evidence)
Limb girdle muscular dystrophy v1.164 ACADVL Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.164 ACADVL Ellen McDonagh Gene: acadvl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Marked gene: BAG3 as ready
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Gene: bag3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.163 BAG3 Ellen McDonagh Mode of inheritance for gene: BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophy v1.162 BAG3 Ellen McDonagh Classified gene: BAG3 as Green List (high evidence)
Limb girdle muscular dystrophy v1.162 BAG3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.162 BAG3 Ellen McDonagh Gene: bag3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.161 CASQ1 Ellen McDonagh Classified gene: CASQ1 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.161 CASQ1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to expert review, however only one missense variants seems to have been reported in this gene. Awaiting further clinical input for this to be Green.
Limb girdle muscular dystrophy v1.161 CASQ1 Ellen McDonagh Gene: casq1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Marked gene: CPT2 as ready
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Gene: cpt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.160 CPT2 Ellen McDonagh Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.159 CPT2 Ellen McDonagh Classified gene: CPT2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.159 CPT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.159 CPT2 Ellen McDonagh Gene: cpt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.158 CRYAB Ellen McDonagh Classified gene: CRYAB as Green List (high evidence)
Limb girdle muscular dystrophy v1.158 CRYAB Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.158 CRYAB Ellen McDonagh Gene: cryab has been classified as Green List (High Evidence).
Proteinuric renal disease v1.226 CLCN5 Eleanor Williams Mode of inheritance for gene: CLCN5 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)
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Marked gene: DAG1 as ready
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Gene: dag1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.157 DAG1 Ellen McDonagh Mode of inheritance for gene: DAG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.156 DAG1 Ellen McDonagh Classified gene: DAG1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.156 DAG1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.156 DAG1 Ellen McDonagh Gene: dag1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.155 DES Ellen McDonagh Classified gene: DES as Green List (high evidence)
Limb girdle muscular dystrophy v1.155 DES Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.155 DES Ellen McDonagh Gene: des has been classified as Green List (High Evidence).
Renal tubulopathies v1.195 SCNN1B Eleanor Williams Added comment: Comment on mode of inheritance: Updating the mode of inheritance as both Pseudohypoaldosteronism, type I (biallelic) and Liddle syndrome 1 (monoallelic) are relevant to the panel
Renal tubulopathies v1.195 SCNN1B Eleanor Williams Mode of inheritance for gene: SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.194 SCNN1G Eleanor Williams Added comment: Comment on mode of inheritance: Updating the MOI as both Pseudohypoaldosteronism, type I (biallelic) and Liddle syndrome 2 (monoallelic) are relevant to the panel.
Renal tubulopathies v1.194 SCNN1G Eleanor Williams Mode of inheritance for gene: SCNN1G was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Marked gene: DOK7 as ready
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.154 DOK7 Ellen McDonagh Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.153 DOK7 Ellen McDonagh Classified gene: DOK7 as Green List (high evidence)
Limb girdle muscular dystrophy v1.153 DOK7 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.153 DOK7 Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Marked gene: DPM3 as ready
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Classified gene: DPM3 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.152 DPM3 Ellen McDonagh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Marked gene: GNE as ready
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.151 GNE Ellen McDonagh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.150 GNE Ellen McDonagh Classified gene: GNE as Green List (high evidence)
Limb girdle muscular dystrophy v1.150 GNE Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives, and more than 3 cases reported.
Limb girdle muscular dystrophy v1.150 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Marked gene: ISPD as ready
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.149 ISPD Ellen McDonagh Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.148 ISPD Ellen McDonagh Classified gene: ISPD as Green List (high evidence)
Limb girdle muscular dystrophy v1.148 ISPD Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.148 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Marked gene: LAMA2 as ready
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Gene: lama2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.147 LAMA2 Ellen McDonagh Mode of inheritance for gene: LAMA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.146 LAMA2 Ellen McDonagh Classified gene: LAMA2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.146 LAMA2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.146 LAMA2 Ellen McDonagh Gene: lama2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Marked gene: LAMP2 as ready
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.145 LAMP2 Ellen McDonagh Mode of inheritance for gene: LAMP2 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophy v1.144 LAMP2 Ellen McDonagh Classified gene: LAMP2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.144 LAMP2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.144 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Marked gene: LPIN1 as ready
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Gene: lpin1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.143 LPIN1 Ellen McDonagh Mode of inheritance for gene: LPIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.142 LPIN1 Ellen McDonagh Classified gene: LPIN1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.142 LPIN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.142 LPIN1 Ellen McDonagh Gene: lpin1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Marked gene: MATR3 as ready
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Gene: matr3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Classified gene: MATR3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.141 MATR3 Ellen McDonagh Gene: matr3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Marked gene: MYH14 as ready
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Gene: myh14 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Classified gene: MYH14 as Red List (low evidence)
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.140 MYH14 Ellen McDonagh Gene: myh14 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.139 MYH7 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'both' to monoallelic due to the publication provided by the reviewers and mode of inheritance provided in OMIM for this phenotype. To confirm with the reviewers.
Limb girdle muscular dystrophy v1.139 MYH7 Ellen McDonagh Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.138 MYH7 Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
Limb girdle muscular dystrophy v1.138 MYH7 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.138 MYH7 Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Marked gene: NEB as ready
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Classified gene: NEB as Red List (low evidence)
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.137 NEB Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Marked gene: ORAI1 as ready
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.136 ORAI1 Ellen McDonagh Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophy v1.135 ORAI1 Ellen McDonagh Classified gene: ORAI1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.135 ORAI1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.135 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Marked gene: PFKM as ready
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Gene: pfkm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.134 PFKM Ellen McDonagh Mode of inheritance for gene: PFKM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.133 PFKM Ellen McDonagh Classified gene: PFKM as Green List (high evidence)
Limb girdle muscular dystrophy v1.133 PFKM Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.133 PFKM Ellen McDonagh Gene: pfkm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.132 PGK1 Ellen McDonagh Classified gene: PGK1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.132 PGK1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.132 PGK1 Ellen McDonagh Gene: pgk1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Marked gene: PHKA1 as ready
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.131 PHKA1 Ellen McDonagh Mode of inheritance for gene: PHKA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophy v1.130 PHKA1 Ellen McDonagh Classified gene: PHKA1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.130 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.129 PHKA1 Ellen McDonagh Classified gene: PHKA1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.129 PHKA1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.129 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.128 POGLUT1 Ellen McDonagh Publications for gene: POGLUT1 were set to 27807076
Limb girdle muscular dystrophy v1.127 POGLUT1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).; to: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH), however only one variant has been reported to date.
Limb girdle muscular dystrophy v1.127 POGLUT1 Ellen McDonagh Classified gene: POGLUT1 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.127 POGLUT1 Ellen McDonagh Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.101 TTN Zerin Hyder changed review comment from: Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.; to: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.
Limb girdle muscular dystrophy v1.126 POGLUT1 Ellen McDonagh Classified gene: POGLUT1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.126 POGLUT1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.126 POGLUT1 Ellen McDonagh Gene: poglut1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Marked gene: POMGNT2 as ready
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Mode of inheritance for gene: POMGNT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Classified gene: POMGNT2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.123 PYGM Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.123 PYGM Ellen McDonagh Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.122 PYGM Ellen McDonagh Classified gene: PYGM as Green List (high evidence)
Limb girdle muscular dystrophy v1.122 PYGM Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.122 PYGM Ellen McDonagh Gene: pygm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Marked gene: RAPSN as ready
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Gene: rapsn has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Classified gene: RAPSN as Red List (low evidence)
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.121 RAPSN Ellen McDonagh Gene: rapsn has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.120 RYR1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.120 RYR1 Ellen McDonagh Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Marked gene: RYR1 as ready
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Classified gene: RYR1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Marked gene: SCN4A as ready
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Classified gene: SCN4A as Red List (low evidence)
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.118 SCN4A Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Deleted their comment
Arthrogryposis v2.101 SLC18A3 Rebecca Foulger Classified gene: SLC18A3 as Amber List (moderate evidence)
Arthrogryposis v2.101 SLC18A3 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber on advice from Zerin Hyder (Genomics England clinical team): 2 families with strong link to arthrogryposis.
Arthrogryposis v2.101 SLC18A3 Rebecca Foulger Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh Classified gene: SELENON as Green List (high evidence)
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.116 SELENON Ellen McDonagh Gene: selenon has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.115 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.115 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Amber List (moderate evidence)
Limb girdle muscular dystrophy v1.115 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophy v1.114 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.114 SMCHD1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.114 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.113 SMCHD1 Ellen McDonagh Tag digenic tag was added to gene: SMCHD1.
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Marked gene: SMN1 as ready
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Mode of inheritance for gene: SMN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Classified gene: SMN1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Marked gene: STIM1 as ready
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Gene: stim1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Classified gene: STIM1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.111 STIM1 Ellen McDonagh Gene: stim1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.110 STIM1 Ellen McDonagh Classified gene: STIM1 as Red List (low evidence)
Limb girdle muscular dystrophy v1.110 STIM1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.110 STIM1 Ellen McDonagh Gene: stim1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.109 SYNE2 Ellen McDonagh Classified gene: SYNE2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.109 SYNE2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophy v1.109 SYNE2 Ellen McDonagh Gene: syne2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.108 TPM3 Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.108 TPM2 Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh Classified gene: TNNT3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophy v1.108 TNNT3 Ellen McDonagh Gene: tnnt3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.107 TNPO3 Ellen McDonagh Classified gene: TNPO3 as Green List (high evidence)
Limb girdle muscular dystrophy v1.107 TNPO3 Ellen McDonagh Gene: tnpo3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.106 TNPO3 Ellen McDonagh Classified gene: TNPO3 as Red List (low evidence)
Limb girdle muscular dystrophy v1.106 TNPO3 Ellen McDonagh Added comment: Comment on list classification: Based on expert review from Chiara Marini Bettolo (NUTH), this gene has been promoted from Red to Green.
Limb girdle muscular dystrophy v1.106 TNPO3 Ellen McDonagh Gene: tnpo3 has been classified as Red List (Low Evidence).
Arthrogryposis v2.100 TOR1AIP1 Rebecca Foulger Classified gene: TOR1AIP1 as Red List (low evidence)
Arthrogryposis v2.100 TOR1AIP1 Rebecca Foulger Added comment: Comment on list classification: One family (PMID:24856141) supports a Red rating.
Arthrogryposis v2.100 TOR1AIP1 Rebecca Foulger Gene: tor1aip1 has been classified as Red List (Low Evidence).
Arthrogryposis v2.99 TOR1AIP1 Rebecca Foulger gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature,Other
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141
Phenotypes for gene: TOR1AIP1 were set to joint contractures; ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
Added comment: Added TOR1AIP1 to panel based on Amber rating on R266 Neuromuscular arthrogryposis panel, and PMID:24856141 2014 paper who report a consanguineous Turkish family with muscle weakness, atrophy and joint contractures in three affected individuals (2 siblings and a cousin). They all had a homozygous variant in TOR1AIP1 (c.186delG causing a premature stop codon). Healthy parents were heterozygous carriers, and allele segregation in the family supported recessive inheritance.
Sources: Literature, Other
Arthrogryposis v2.98 SLC18A3 Rebecca Foulger Added comment: Comment on publications: PMID:27590285: report individuals from 2 families with biallelic SLC18A3 variants and presynaptic congenital myasthenic syndrome.
Arthrogryposis v2.98 SLC18A3 Rebecca Foulger Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger commented on gene: SLC18A3: PMID:28188302 (Aran et al., 2017) report 2 brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis. The brothers were homozygous for missense variant in SLC18A3 c.1078G>C, p.Gly360Arg.
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger commented on gene: SLC18A3: PMID:31059209 (Hakonen et al., 2019) report 2 sibling Finnish fetuses with with fetal akinesia, arthrogryposis, edema, and partial cleft palate and a homozygous variant in SLC18A3: c.1116C>A, p.(Cys372Ter). The parents were distant relatives.
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger Classified gene: SLC18A3 as Amber List (moderate evidence)
Arthrogryposis v2.97 SLC18A3 Rebecca Foulger Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.96 SLC18A3 Rebecca Foulger gene: SLC18A3 was added
gene: SLC18A3 was added to Arthrogryposis. Sources: Other,Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis
Added comment: Added to panel based on Amber rating on Neuromuscular arthrogryposis panel V0.21 and literature evidence supporting an Arthrogryposis phenotype.
Sources: Other, Literature
Skeletal ciliopathies v0.42 WDPCP Eleanor Williams Classified gene: WDPCP as No list
Skeletal ciliopathies v0.42 WDPCP Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.42 WDPCP Eleanor Williams Gene: wdpcp has been removed from the panel.
Skeletal ciliopathies v0.41 TTC8 Eleanor Williams Classified gene: TTC8 as No list
Skeletal ciliopathies v0.41 TTC8 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.41 TTC8 Eleanor Williams Gene: ttc8 has been removed from the panel.
Skeletal ciliopathies v0.40 TRIM32 Eleanor Williams Classified gene: TRIM32 as No list
Skeletal ciliopathies v0.40 TRIM32 Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Skeletal ciliopathies v0.40 TRIM32 Eleanor Williams Gene: trim32 has been removed from the panel.
Skeletal ciliopathies v0.39 SDCCAG8 Eleanor Williams Classified gene: SDCCAG8 as No list