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Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Gene: slc7a9 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.37 SLC7A9 Eleanor Williams gene: SLC7A9 was added
gene: SLC7A9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC7A9 were set to Cystinuria 220100
Added comment: Adding gene at recommendation of Genomics England clinical team.
Sources: Other
Tubulointerstitial kidney disease v1.0 SEC61A1 Eleanor Williams edited their review of gene: SEC61A1: Added comment: Further case reported in Groopman et al 2019 (PMID: 30586318); Changed phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Classified gene: SEC61A1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating to green. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Gene: sec61a1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams Deleted their comment
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076; to: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams Publications for gene: SEC61A1 were set to 27392076
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Classified gene: SEC61A1 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v0.33 SEC61A1 Eleanor Williams gene: SEC61A1 was added
gene: SEC61A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 27392076
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4 617056
Added comment: Adding gene to panel at suggestion of Genomics England clinical team
Sources: Other
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Classified gene: IQCB1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies panel. Should be green if NPHP1 is green.
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Gene: iqcb1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.31 IQCB1 Eleanor Williams Phenotypes for gene: IQCB1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Senior-Loken syndrome 5 609254
Unexplained young onset end-stage renal disease v0.30 IQCB1 Eleanor Williams Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Classified gene: SLC3A1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Gene: slc3a1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.28 SLC3A1 Eleanor Williams gene: SLC3A1 was added
gene: SLC3A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria 220100
Added comment: Adding gene to the panel on recommendation of Genomics England clinical team
Sources: Other
Unexplained young onset end-stage renal disease v0.27 CRB2 Eleanor Williams Publications for gene: CRB2 were set to 25557780
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams changed review comment from: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.; to: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies and Proteinuric renal disease panels.
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Classified gene: CRB2 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Gene: crb2 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.25 CRB2 Eleanor Williams Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease 219730
Unexplained young onset end-stage renal disease v0.24 CRB2 Eleanor Williams gene: CRB2 was added
gene: CRB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Added comment: Gene suggested for addition to this panel by Genomics England clinical team.
Sources: Other
Unexplained young onset end-stage renal disease v0.23 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to Fabry disease, 301500; renal insufficiency; renal failure
Unexplained young onset end-stage renal disease v0.22 GLA Eleanor Williams Publications for gene: GLA were set to
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Classified gene: GLA as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green on this panel on advice from Genomics England clinical team. Can present with renal disease as the main feature.
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Gene: gla has been classified as Green List (High Evidence).
Severe early-onset obesity v1.23 KSR2 Ivone Leong Classified gene: KSR2 as Amber List (moderate evidence)
Severe early-onset obesity v1.23 KSR2 Ivone Leong Gene: ksr2 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.22 KSR2 Ivone Leong edited their review of gene: KSR2: Changed rating: AMBER
Severe early-onset obesity v1.22 KSR2 Ivone Leong changed review comment from: KSR2 is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 29273807 is a large study that combined data from approx. 720,000 individuals to find rare and low-frequency variants associated with BMI. A variant was found in KSR2. There was no details about this patient. Based on this data and the previous reviews, KSR2 has been left as a red gene until further cases/family case reports are available.; to: KSR2 is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 29273807 is a large study that combined data from approx. 720,000 individuals to find rare and low-frequency variants associated with BMI. A variant was found in KSR2. There was no details about this patient. Based on this data and the previous reviews, KSR2 has been left as a Amber gene until further cases/family case reports are available.
Paroxysmal central nervous system disorders v0.87 Rebecca Foulger Panel name changed from Paroxysmal neurological disorders, pain disorders and sleep disorders to Paroxysmal central nervous system disorders
List of related panels changed from to Paroxysmal neurological disorders; pain disorders and sleep disorders
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.1 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Early onset or syndromic epilepsy v1.329 PIGP Rebecca Foulger changed review comment from: 2 independent cases reported in OMIM: 2 compound heterozygous siblings with early infantile epileptic encephalopathy-55 reported by Johnstone et al., 2017 (PMID:28334793). Plus a 2-year-old girl, with a homozygous 1bp deletion, born of unrelated parents, with EIEE55 reported by Krenn et al.,2019 (PMID:31139695).; to: Summary of cases (see Konstantinos Varvagiannis' review for details). 2 independent cases reported in OMIM: 2 compound heterozygous siblings with early infantile epileptic encephalopathy-55 reported by Johnstone et al., 2017 (PMID:28334793). Plus a 2-year-old girl, with a homozygous 1bp deletion, born of unrelated parents, with EIEE55 reported by Krenn et al.,2019 (PMID:31139695). The third case reported by Konstantinos comes from LOVD.
Early onset or syndromic epilepsy v1.329 PIGP Rebecca Foulger commented on gene: PIGP
Early onset or syndromic epilepsy v1.329 PIGP Rebecca Foulger Phenotypes for gene: PIGP were changed from Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment to ?Epileptic encephalopathy, early infantile, 55, 617599; Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment
Early onset or syndromic epilepsy v1.328 GABRA5 Rebecca Foulger changed review comment from: Added missense tag because, as Konstantinos Varvagiannis notes, only missense variants reported to date for Epileptic Encephalopathy.; to: Added missense tag because, as Konstantinos Varvagiannis notes, only missense GABRA5 variants reported to date for Epileptic Encephalopathy.
Early onset or syndromic epilepsy v1.328 GABRA5 Rebecca Foulger changed review comment from: Added missense tag because, as Konstantinos Varvagiannis notes, only missense variants reported to date.; to: Added missense tag because, as Konstantinos Varvagiannis notes, only missense variants reported to date for Epileptic Encephalopathy.
Early onset or syndromic epilepsy v1.328 GABRA5 Rebecca Foulger commented on gene: GABRA5
Early onset or syndromic epilepsy v1.328 GABRA5 Rebecca Foulger Phenotypes for gene: GABRA5 were changed from Epileptic encephalopathy, early infantile, 79 (MIM 618559) to Epileptic encephalopathy, early infantile, 79, 618559
Early onset or syndromic epilepsy v1.327 GABRA5 Rebecca Foulger Publications for gene: GABRA5 were set to 29961870
Early onset or syndromic epilepsy v1.326 GABRA5 Rebecca Foulger Tag missense tag was added to gene: GABRA5.
Early onset or syndromic epilepsy v1.326 GABRA2 Rebecca Foulger Deleted their comment
Early onset or syndromic epilepsy v1.326 GABRA2 Rebecca Foulger commented on gene: GABRA2: Added 'missense' tag based on Konstantinos Varvagiannis' comment that all variants to-date are missense variants.
Early onset or syndromic epilepsy v1.326 GABRA2 Rebecca Foulger Tag missense tag was added to gene: GABRA2.
Early onset or syndromic epilepsy v1.326 GABRA2 Rebecca Foulger commented on gene: GABRA2
Early onset or syndromic epilepsy v1.326 HNRNPR Catherine Snow Tag watchlist tag was added to gene: HNRNPR.
Early onset or syndromic epilepsy v1.326 HNRNPR Catherine Snow Classified gene: HNRNPR as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.326 HNRNPR Catherine Snow Gene: hnrnpr has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.325 HNRNPR Catherine Snow reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.325 GABRA2 Konstantinos Varvagiannis changed review comment from: Heterozygous pathogenic GABRA2 variants cause Epileptic encephalopathy, early infantile, 78 (MIM 618557) [new OMIM entry].

At least 8 relevant individuals have been reported to date in the following studies:
- Orenstein et al. (2018 - PMID: 29422393) - 1 individual
- Butler et al. (2018 - PMID: 29961870) - 1 subject
- Maljevic et al. (2019 - PMID: 31032849 - 3 unrelated children as well as 2 affected sibs
- Sanchis-Juan et al. (2019 - bioRxiv / https://doi.org/10.1101/678219) - 1 further patient

In all affected individuals the variants were missense and - in almost all cases - had occurred as de novo events. The 2 sibs reported by Maljevic however, had inherited a missense variant from their unaffected mosaic parent.

Clinical descriptions for individuals from the 3 studies are provided in OMIM and also summarized in the suppl. table 1 by Sanchis-Juan et al. (https://www.biorxiv.org/content/biorxiv/early/2019/06/21/678219/DC2/embed/media-2.xlsx). Seizures, DD and ID (relevant to the current panel) are among the reported features. Functional studies have been performed for most of the variants and are summarized for each one in the OMIM entry for GABRG2 and the aforementioned table as well.

The following variants have been reported (NM_000807.2): c.1003A>C - p.Asn335His (dn) / c.875C>A - Thr292Lys (dn) / c.871C>G - p.Leu291Val (dn) / c.788T>C - p.Met263Thr (dn) / c.851T>C - p.Val284Ala (dn) / c.975C>A - p.Phe325Leu (inherited from mosaic parent) / c.839C>T - p.Pro280Leu (dn - Sanchis-Juan et al).

As commented by Jenkins and Escayg (2019 - PMID: 31032848 / both among the authors of the 1st report) as well as by Sanchis-Juan et al., both loss- and gain- of function effects explain the pathogenicity of the various mutations reported to date. [In gnomAD GABRA2 has a Z-score for missense variants of 3.13 as well as a pLI of 1].
------
GABRA2 is not associated with any phenotype in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
------
As a result, GABRA2 can be considered for inclusion in the epilepsy and ID panels probably as green (several relevant individuals, several reported variants with supporting functional studies for most, etc.).

[Consider inclusion in other possibly relevant gene panels eg. for ASD which was feature in some patients at relevant age and/or among those evaluated].; to: Heterozygous pathogenic GABRA2 variants cause Epileptic encephalopathy, early infantile, 78 (MIM 618557) [new OMIM entry].

At least 8 relevant individuals have been reported to date in the following studies:
- Orenstein et al. (2018 - PMID: 29422393) - 1 individual
- Butler et al. (2018 - PMID: 29961870) - 1 subject
- Maljevic et al. (2019 - PMID: 31032849 - 3 unrelated children as well as 2 affected sibs
- Sanchis-Juan et al. (2019 - bioRxiv / https://doi.org/10.1101/678219) - 1 further patient

In all affected individuals the variants were missense and - in almost all cases - had occurred as de novo events. The 2 sibs reported by Maljevic however, had inherited a missense variant from their unaffected mosaic parent.

Clinical descriptions for individuals from the 3 studies are provided in OMIM and also summarized, Maljevic - Table 1 (7 patients) and/or in the suppl. table 1 by Sanchis-Juan et al. (8 patients) (https://www.biorxiv.org/content/biorxiv/early/2019/06/21/678219/DC2/embed/media-2.xlsx). Seizures, DD and ID (relevant to the current panel) are among the reported features. Functional studies have been performed for most of the variants and are summarized for each one in the OMIM entry for GABRG2 and the aforementioned table as well.

The following variants have been reported (NM_000807.2): c.1003A>C - p.Asn335His (dn) / c.875C>A - Thr292Lys (dn) / c.871C>G - p.Leu291Val (dn) / c.788T>C - p.Met263Thr (dn) / c.851T>C - p.Val284Ala (dn) / c.975C>A - p.Phe325Leu (inherited from mosaic parent) / c.839C>T - p.Pro280Leu (dn - Sanchis-Juan et al).

As commented by Jenkins and Escayg (2019 - PMID: 31032848 / both among the authors of the 1st report) as well as by Sanchis-Juan et al., both loss- and gain- of function effects explain the pathogenicity of the various mutations reported to date. [In gnomAD GABRA2 has a Z-score for missense variants of 3.13 as well as a pLI of 1].
------
GABRA2 is not associated with any phenotype in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
------
As a result, GABRA2 can be considered for inclusion in the epilepsy and ID panels probably as green (several relevant individuals, several reported variants with supporting functional studies for most, etc.).

[Consider inclusion in other possibly relevant gene panels eg. for ASD which was feature in some patients at relevant age and/or among those evaluated].
Intellectual disability v2.1022 GABRA2 Konstantinos Varvagiannis changed review comment from: Heterozygous pathogenic GABRA2 variants cause Epileptic encephalopathy, early infantile, 78 (MIM 618557) [new OMIM entry].

At least 8 relevant individuals have been reported to date in the following studies:
- Orenstein et al. (2018 - PMID: 29422393) - 1 individual
- Butler et al. (2018 - PMID: 29961870) - 1 subject
- Maljevic et al. (2019 - PMID: 31032849 - 3 unrelated children as well as 2 affected sibs
- Sanchis-Juan et al. (2019 - bioRxiv / https://doi.org/10.1101/678219) - 1 further patient

In all affected individuals the variants were missense and - in almost all cases - had occurred as de novo events. The 2 sibs reported by Maljevic however, had inherited a missense variant from their unaffected mosaic parent.

Clinical descriptions for individuals from the 3 studies are provided in OMIM and also summarized in the suppl. table 1 by Sanchis-Juan et al. (https://www.biorxiv.org/content/biorxiv/early/2019/06/21/678219/DC2/embed/media-2.xlsx). Seizures, DD and ID (relevant to the current panel) are among the reported features. Functional studies have been performed for most of the variants and are summarized for each one in the OMIM entry for GABRG2 and the aforementioned table as well.

The following variants have been reported (NM_000807.2): c.1003A>C - p.Asn335His (dn) / c.875C>A - Thr292Lys (dn) / c.871C>G - p.Leu291Val (dn) / c.788T>C - p.Met263Thr (dn) / c.851T>C - p.Val284Ala (dn) / c.975C>A - p.Phe325Leu (inherited from mosaic parent) / c.839C>T - p.Pro280Leu (dn - Sanchis-Juan et al).

As commented by Jenkins and Escayg (2019 - PMID: 31032848 / both among the authors of the 1st report) as well as by Sanchis-Juan et al., both loss- and gain- of function effects explain the pathogenicity of the various mutations reported to date. [In gnomAD GABRA2 has a Z-score for missense variants of 3.13 as well as a pLI of 1].
------
GABRA2 is not associated with any phenotype in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
------
As a result, GABRA2 can be considered for inclusion in the epilepsy and ID panels probably as green (several relevant individuals, several reported variants with supporting functional studies for most, etc.).

[Consider inclusion in other possibly relevant gene panels eg. for ASD which was feature in some patients at relevant age and/or among those evaluated].; to: Heterozygous pathogenic GABRA2 variants cause Epileptic encephalopathy, early infantile, 78 (MIM 618557) [new OMIM entry].

At least 8 relevant individuals have been reported to date in the following studies:
- Orenstein et al. (2018 - PMID: 29422393) - 1 individual
- Butler et al. (2018 - PMID: 29961870) - 1 subject
- Maljevic et al. (2019 - PMID: 31032849 - 3 unrelated children as well as 2 affected sibs
- Sanchis-Juan et al. (2019 - bioRxiv / https://doi.org/10.1101/678219) - 1 further patient

In all affected individuals the variants were missense and - in almost all cases - had occurred as de novo events. The 2 sibs reported by Maljevic however, had inherited a missense variant from their unaffected mosaic parent.

Clinical descriptions for individuals from the 3 studies are provided in OMIM and also summarized, Maljevic - Table 1 (7 patients) and/or in the suppl. table 1 by Sanchis-Juan et al. (8 patients) (https://www.biorxiv.org/content/biorxiv/early/2019/06/21/678219/DC2/embed/media-2.xlsx). Seizures, DD and ID (relevant to the current panel) are among the reported features. Functional studies have been performed for most of the variants and are summarized for each one in the OMIM entry for GABRG2 and the aforementioned table as well.

The following variants have been reported (NM_000807.2): c.1003A>C - p.Asn335His (dn) / c.875C>A - Thr292Lys (dn) / c.871C>G - p.Leu291Val (dn) / c.788T>C - p.Met263Thr (dn) / c.851T>C - p.Val284Ala (dn) / c.975C>A - p.Phe325Leu (inherited from mosaic parent) / c.839C>T - p.Pro280Leu (dn - Sanchis-Juan et al).

As commented by Jenkins and Escayg (2019 - PMID: 31032848 / both among the authors of the 1st report) as well as by Sanchis-Juan et al., both loss- and gain- of function effects explain the pathogenicity of the various mutations reported to date. [In gnomAD GABRA2 has a Z-score for missense variants of 3.13 as well as a pLI of 1].
------
GABRA2 is not associated with any phenotype in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
------
As a result, GABRA2 can be considered for inclusion in the epilepsy and ID panels probably as green (several relevant individuals, several reported variants with supporting functional studies for most, etc.).

[Consider inclusion in other possibly relevant gene panels eg. for ASD which was feature in some patients at relevant age and/or among those evaluated].
Skeletal dysplasia v1.201 NIN Eleanor Williams Classified gene: NIN as Red List (low evidence)
Skeletal dysplasia v1.201 NIN Eleanor Williams Added comment: Comment on list classification: Changing rating from green to red, in light of Zornitza Stark's red review. Evidence is not strong.
Skeletal dysplasia v1.201 NIN Eleanor Williams Gene: nin has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.200 CREB3L1 Eleanor Williams changed review comment from: Comment on list classification: Decided to wait for GMS approval before upgrading to green.; to: Comment on list classification: Decided to wait for GMS approval before upgrading to green. Demoting back to red.
Skeletal dysplasia v1.200 DSPP Eleanor Williams Classified gene: DSPP as Red List (low evidence)
Skeletal dysplasia v1.200 DSPP Eleanor Williams Added comment: Comment on list classification: Decided to wait for GMS approval before upgrading to green on this panel. Demoting back to red.
Skeletal dysplasia v1.200 DSPP Eleanor Williams Gene: dspp has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.199 CREB3L1 Eleanor Williams Classified gene: CREB3L1 as Red List (low evidence)
Skeletal dysplasia v1.199 CREB3L1 Eleanor Williams Added comment: Comment on list classification: Decided to wait for GMS approval before upgrading to green.
Skeletal dysplasia v1.199 CREB3L1 Eleanor Williams Gene: creb3l1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.198 CREB3L1 Eleanor Williams changed review comment from: Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.; to: Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.
Skeletal dysplasia v1.198 DSPP Eleanor Williams Classified gene: DSPP as Green List (high evidence)
Skeletal dysplasia v1.198 DSPP Eleanor Williams Added comment: Comment on list classification: Green on the Osteogenesis imperfecta panel so making green on this panel.
Skeletal dysplasia v1.198 DSPP Eleanor Williams Gene: dspp has been classified as Green List (High Evidence).
Skeletal dysplasia v1.197 DSPP Eleanor Williams Publications for gene: DSPP were set to
Skeletal dysplasia v1.196 DSPP Eleanor Williams Mode of inheritance for gene: DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.195 DSPP Eleanor Williams commented on gene: DSPP
Skeletal dysplasia v1.195 CREB3L1 Eleanor Williams Publications for gene: CREB3L1 were set to 25007323; 29936144.; 28817112
Skeletal dysplasia v1.194 CREB3L1 Eleanor Williams Classified gene: CREB3L1 as Green List (high evidence)
Skeletal dysplasia v1.194 CREB3L1 Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.
Skeletal dysplasia v1.194 CREB3L1 Eleanor Williams Gene: creb3l1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.193 CREB3L1 Eleanor Williams commented on gene: CREB3L1: 4 cases now reported each in a publication (PMID: 24079343 - whole gene deletion, PMID: 28817112 - 3bp in-frame deletion (c.934_936delAAG [p.Lys312del], PMID: 29936144 - premature stop codon c.1284C>A; p.Tyr428*, PMID: 30657919 - homozygous missense variant (p.(Ala304Val))
Thoracic aortic aneurysm or dissection (GMS) v0.20 Ivone Leong List of related panels changed from to R125
Long QT syndrome v1.30 Ivone Leong List of related panels changed from Long QT to Long QT; R127
Brugada syndrome and cardiac sodium channel disease v1.42 Ivone Leong List of related panels changed from to R128
Catecholaminergic polymorphic VT v1.17 Ivone Leong List of related panels changed from Catecholaminergic Polymorphic Ventricular Tachycardia to Catecholaminergic Polymorphic Ventricular Tachycardia; R129
Hypertrophic cardiomyopathy v1.57 Ivone Leong List of related panels changed from Hypertrophic Cardiomyopathy; HCM to Hypertrophic Cardiomyopathy; HCM; R131
Arrhythmogenic right ventricular cardiomyopathy v1.26 Ivone Leong List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy; R133
Dilated and arrhythmogenic cardiomyopathy v0.39 Ivone Leong List of related panels changed from to R132
Short QT syndrome v1.15 Ivone Leong List of related panels changed from to R130
Progressive cardiac conduction disease v0.28 Ivone Leong List of related panels changed from to R328
Primary lymphoedema v1.122 Ivone Leong List of related panels changed from Lymphatic Disorders; Meiges disease; Meige disease; Milroy disease; Lymphoedema distichiasis; Lipoedema disease to Lymphatic Disorders; Meiges disease; Meige disease; Milroy disease; Lymphoedema distichiasis; Lipoedema disease; R136
Fetal anomalies v0.341 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to 23035047
Fetal anomalies v0.340 GJB2 Rebecca Foulger Classified gene: GJB2 as Red List (low evidence)
Fetal anomalies v0.340 GJB2 Rebecca Foulger Added comment: Comment on list classification: Demoted GJB2 from Green to Red as requested by Anna de Burca. See Anna's review (9 September 2019)- the digit phenotype is unlikely to be detected on fetal ultrasound.
Fetal anomalies v0.340 GJB2 Rebecca Foulger Gene: gjb2 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v0.12 Ivone Leong List of related panels changed from Paediatric or syndromic cardiomyopathy to Paediatric or syndromic cardiomyopathy; R135
Paroxysmal central nervous system disorders v0.86 SEPT9 Rebecca Foulger Classified gene: SEPT9 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.86 SEPT9 Rebecca Foulger Added comment: Comment on list classification: Demoted SEPT9 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.86 SEPT9 Rebecca Foulger Gene: sept9 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.85 NAGLU Rebecca Foulger Classified gene: NAGLU as Red List (low evidence)
Paroxysmal central nervous system disorders v0.85 NAGLU Rebecca Foulger Added comment: Comment on list classification: Demoted NAGLU from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.85 NAGLU Rebecca Foulger Gene: naglu has been classified as Red List (Low Evidence).
Rare genetic inflammatory skin disorders v0.14 NLRP1 Catherine Snow reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 NLRP3 Catherine Snow reviewed gene: NLRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 LYST Catherine Snow reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 GGCX Catherine Snow reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ABCC6 Catherine Snow reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 GALNT3 Catherine Snow reviewed gene: GALNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FOXC2 Catherine Snow reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FMO3 Catherine Snow reviewed gene: FMO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FLT4 Catherine Snow reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FGF23 Catherine Snow reviewed gene: FGF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 FBLN5 Catherine Snow reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 EFEMP2 Catherine Snow reviewed gene: EFEMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ELN Catherine Snow reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 EGFR Catherine Snow reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL5A2 Catherine Snow reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL5A1 Catherine Snow reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL4A5 Catherine Snow reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL4A4 Catherine Snow reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL4A3 Catherine Snow reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL3A1 Catherine Snow reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL1A2 Catherine Snow reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 COL1A1 Catherine Snow reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ATP7B Catherine Snow reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ATP7A Catherine Snow reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ATP6V0A2 Catherine Snow reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ANTXR2 Catherine Snow reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 AIRE Catherine Snow reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 AGPAT2 Catherine Snow reviewed gene: AGPAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.14 ADAMTS2 Catherine Snow reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.13 ATP2A2 Catherine Snow reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 PPOX Catherine Snow reviewed gene: PPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 FECH Catherine Snow reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 CPOX Catherine Snow reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 CPO Catherine Snow reviewed gene: CPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 AP3B1 Catherine Snow reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 ADAMTS13 Catherine Snow reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.13 MLPH Catherine Snow reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.13 IL31RA Catherine Snow reviewed gene: IL31RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.9 IL7 Catherine Snow reviewed gene: IL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.9 CORO1A Catherine Snow reviewed gene: CORO1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.9 MST1 Catherine Snow reviewed gene: MST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.9 RHOH Catherine Snow reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.9 STK11 Catherine Snow reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 SPINK5 Catherine Snow reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 PIGL Catherine Snow reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 FLG2 Catherine Snow reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 CLDN1 Catherine Snow reviewed gene: CLDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 FLG Catherine Snow reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 LOR Catherine Snow reviewed gene: LOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 MSMO1 Catherine Snow reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ichthyosis and erythrokeratoderma v0.10 KRT2 Catherine Snow reviewed gene: KRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 SPINK5 Catherine Snow reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 CTSB Catherine Snow reviewed gene: CTSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 FLG2 Catherine Snow reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 EGFR Catherine Snow reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 ATP2C1 Catherine Snow reviewed gene: ATP2C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 ATP2A2 Catherine Snow reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 DSG1 Catherine Snow reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 SLC39A7 Catherine Snow reviewed gene: SLC39A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 SLC39A4 Catherine Snow reviewed gene: SLC39A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 IKBKG Catherine Snow reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 KRT10 Catherine Snow reviewed gene: KRT10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 KRT1 Catherine Snow reviewed gene: KRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 PLOD3 Catherine Snow reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 CD151 Catherine Snow reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 DSG3 Catherine Snow reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 DSC3 Catherine Snow reviewed gene: DSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.21 KRT83 Catherine Snow reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.21 KRT81 Catherine Snow reviewed gene: KRT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.21 KRT71 Catherine Snow reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.21 RSPO4 Catherine Snow reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.84 MPV17 Rebecca Foulger Classified gene: MPV17 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.84 MPV17 Rebecca Foulger Added comment: Comment on list classification: Demoted MPV17 from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.84 MPV17 Rebecca Foulger Gene: mpv17 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.83 CSNK1D Rebecca Foulger Classified gene: CSNK1D as Green List (high evidence)
Paroxysmal central nervous system disorders v0.83 CSNK1D Rebecca Foulger Added comment: Comment on list classification: Demoted CSNK1D from Amber to Green based on Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.83 CSNK1D Rebecca Foulger Gene: csnk1d has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.82 CSNK1D Rebecca Foulger Publications for gene: CSNK1D were set to 25660813; 23636092
Paroxysmal central nervous system disorders v0.81 CSNK1D Rebecca Foulger Mode of inheritance for gene: CSNK1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.80 WNK1 Rebecca Foulger Classified gene: WNK1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.80 WNK1 Rebecca Foulger Added comment: Comment on list classification: Demoted WNK1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.80 WNK1 Rebecca Foulger Gene: wnk1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.79 TTR Rebecca Foulger Classified gene: TTR as Red List (low evidence)
Paroxysmal central nervous system disorders v0.79 TTR Rebecca Foulger Added comment: Comment on list classification: Demoted TTR from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.79 TTR Rebecca Foulger Gene: ttr has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.19 COL11A2 Ivone Leong Publications for gene: COL11A2 were set to
Paroxysmal central nervous system disorders v0.78 TRPA1 Rebecca Foulger Classified gene: TRPA1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.78 TRPA1 Rebecca Foulger Added comment: Comment on list classification: Demoted TRPA1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.78 TRPA1 Rebecca Foulger Gene: trpa1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.18 TGFBR2 Ivone Leong Publications for gene: TGFBR2 were set to
Paroxysmal central nervous system disorders v0.77 TRPA1 Rebecca Foulger Phenotypes for gene: TRPA1 were changed from Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I to ?Episodic pain syndrome, familial, 1, 615040; Familial episodic pain syndrome type I
Thoracic aortic aneurysm or dissection (GMS) v0.17 TGFBR1 Ivone Leong Publications for gene: TGFBR1 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.16 TGFB2 Ivone Leong Publications for gene: TGFB2 were set to
Paroxysmal central nervous system disorders v0.76 SPTLC2 Rebecca Foulger Classified gene: SPTLC2 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.76 SPTLC2 Rebecca Foulger Added comment: Comment on list classification: Demoted SPTLC2 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.76 SPTLC2 Rebecca Foulger Gene: sptlc2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.15 SMAD3 Ivone Leong Publications for gene: SMAD3 were set to
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Classified gene: SPTLC1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Added comment: Comment on list classification: Demoted SPTLC1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Gene: sptlc1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.14 MYH11 Ivone Leong Publications for gene: MYH11 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.13 ACTA2 Ivone Leong Publications for gene: ACTA2 were set to
Paroxysmal central nervous system disorders v0.74 SPR Rebecca Foulger Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Paroxysmal central nervous system disorders v0.73 SPR Rebecca Foulger Classified gene: SPR as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.73 SPR Rebecca Foulger Added comment: Comment on list classification: Demoted rating of SPR from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.73 SPR Rebecca Foulger Gene: spr has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.12 FBN1 Ivone Leong Publications for gene: FBN1 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.11 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to
Paroxysmal central nervous system disorders v0.72 SCN9A Rebecca Foulger Classified gene: SCN9A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.72 SCN9A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN9A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.72 SCN9A Rebecca Foulger Gene: scn9a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.71 SCN8A Rebecca Foulger Classified gene: SCN8A as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.71 SCN8A Rebecca Foulger Added comment: Comment on list classification: Demoted rating of SCN8A from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.71 SCN8A Rebecca Foulger Gene: scn8a has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.70 SCN4A Rebecca Foulger Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.69 SCN4A Rebecca Foulger Classified gene: SCN4A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.69 SCN4A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN4A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.69 SCN4A Rebecca Foulger Gene: scn4a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.68 SCN11A Rebecca Foulger Classified gene: SCN11A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.68 SCN11A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN11A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.68 SCN11A Rebecca Foulger Gene: scn11a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.67 SCN10A Rebecca Foulger Classified gene: SCN10A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.67 SCN10A Rebecca Foulger Added comment: Comment on list classification: Demoted SCN10A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.67 SCN10A Rebecca Foulger Gene: scn10a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.66 RYR1 Rebecca Foulger Phenotypes for gene: RYR1 were changed from to Central core disease of muscle, 117000
Paroxysmal central nervous system disorders v0.65 RYR1 Rebecca Foulger Classified gene: RYR1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.65 RYR1 Rebecca Foulger Added comment: Comment on list classification: Demoted RYR1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.65 RYR1 Rebecca Foulger Gene: ryr1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.64 RETREG1 Rebecca Foulger Classified gene: RETREG1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.64 RETREG1 Rebecca Foulger Added comment: Comment on list classification: Demoted RETREG1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.64 RETREG1 Rebecca Foulger Gene: retreg1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.63 RAB7A Rebecca Foulger Classified gene: RAB7A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.63 RAB7A Rebecca Foulger Added comment: Comment on list classification: Demoted RAB7A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.63 RAB7A Rebecca Foulger Gene: rab7a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.62 PYGM Rebecca Foulger Classified gene: PYGM as Red List (low evidence)
Paroxysmal central nervous system disorders v0.62 PYGM Rebecca Foulger Added comment: Comment on list classification: Demoted PYGM from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.62 PYGM Rebecca Foulger Gene: pygm has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.61 KIF1A Rebecca Foulger Classified gene: KIF1A as Red List (low evidence)
Paroxysmal central nervous system disorders v0.61 KIF1A Rebecca Foulger Added comment: Comment on list classification: Demoted KIF1A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.61 KIF1A Rebecca Foulger Gene: kif1a has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.60 KIF1A Rebecca Foulger Deleted their comment
Paroxysmal central nervous system disorders v0.60 PRNP Rebecca Foulger Classified gene: PRNP as Red List (low evidence)
Paroxysmal central nervous system disorders v0.60 PRNP Rebecca Foulger Added comment: Comment on list classification: Demoted PRNP from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.60 PRNP Rebecca Foulger Gene: prnp has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.59 PRNP Rebecca Foulger Phenotypes for gene: PRNP were changed from Cerebral amyloid angiopathy, PRNP-related to Cerebral amyloid angiopathy, PRNP-related, 137440
Paroxysmal central nervous system disorders v0.58 PRNP Rebecca Foulger Mode of inheritance for gene: PRNP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.57 PRDM12 Rebecca Foulger Classified gene: PRDM12 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.57 PRDM12 Rebecca Foulger Added comment: Comment on list classification: Demoted PRDM12 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.57 PRDM12 Rebecca Foulger Gene: prdm12 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.56 PRDM12 Rebecca Foulger Deleted their comment
Paroxysmal central nervous system disorders v0.56 PRDM12 Rebecca Foulger commented on gene: PRDM12: Demoted PRDM12 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.56 NTRK1 Rebecca Foulger Classified gene: NTRK1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.56 NTRK1 Rebecca Foulger Added comment: Comment on list classification: Demoted NTRK1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.56 NTRK1 Rebecca Foulger Gene: ntrk1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.55 NGF Rebecca Foulger Classified gene: NGF as Red List (low evidence)
Paroxysmal central nervous system disorders v0.55 NGF Rebecca Foulger Added comment: Comment on list classification: Demoted NGF from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.55 NGF Rebecca Foulger Gene: ngf has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.54 MT-ATP8 Rebecca Foulger Classified gene: MT-ATP8 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.54 MT-ATP8 Rebecca Foulger Added comment: Comment on list classification: Demoted MT-ATP8 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.54 MT-ATP8 Rebecca Foulger Gene: mt-atp8 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.53 MT-ATP6 Rebecca Foulger Phenotypes for gene: MT-ATP6 were changed from to Neuropathy, ataxia, and retinitis pigmentosa, 551500
Paroxysmal central nervous system disorders v0.52 MT-ATP6 Rebecca Foulger Classified gene: MT-ATP6 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.52 MT-ATP6 Rebecca Foulger Added comment: Comment on list classification: Demoted MT-ATP6 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.52 MT-ATP6 Rebecca Foulger Gene: mt-atp6 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.51 KIF1A Rebecca Foulger commented on gene: KIF1A: Demoted KIF1A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.51 KCNQ3 Rebecca Foulger Classified gene: KCNQ3 as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v0.51 KCNQ3 Rebecca Foulger Added comment: Comment on list classification: Demoted rating of KCNQ3 from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.51 KCNQ3 Rebecca Foulger Gene: kcnq3 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v0.50 KCNQ3 Rebecca Foulger Mode of inheritance for gene: KCNQ3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.49 KCNJ2 Rebecca Foulger Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.48 KCNJ2 Rebecca Foulger Phenotypes for gene: KCNJ2 were changed from ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.47 KCNJ2 Rebecca Foulger Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.46 KCNJ2 Rebecca Foulger Classified gene: KCNJ2 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.46 KCNJ2 Rebecca Foulger Gene: kcnj2 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.45 KCNJ2 Rebecca Foulger commented on gene: KCNJ2: Demoted KCNJ2 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.45 GLA Rebecca Foulger Classified gene: GLA as Red List (low evidence)
Paroxysmal central nervous system disorders v0.45 GLA Rebecca Foulger Gene: gla has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.44 GLA Rebecca Foulger Phenotypes for gene: GLA were changed from Fabry disease, to Fabry disease, 301500
Paroxysmal central nervous system disorders v0.43 GLA Rebecca Foulger commented on gene: GLA: Demoted GLA from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.43 ELP1 Rebecca Foulger Classified gene: ELP1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.43 ELP1 Rebecca Foulger Added comment: Comment on list classification: Demoted ELP1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.43 ELP1 Rebecca Foulger Gene: elp1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.42 CACNB4 Rebecca Foulger Mode of inheritance for gene: CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.41 CACNA1A Rebecca Foulger Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.40 ATP7B Rebecca Foulger Phenotypes for gene: ATP7B were changed from Wilson disease 277900 to Wilson disease, 277900
Paroxysmal central nervous system disorders v0.39 ATP2A1 Rebecca Foulger Phenotypes for gene: ATP2A1 were changed from Brody myopathy 601003 to Brody myopathy, 601003
Paroxysmal central nervous system disorders v0.38 ATP2A1 Rebecca Foulger Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193
Paroxysmal central nervous system disorders v0.37 ATP1A3 Rebecca Foulger Mode of inheritance for gene: ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.36 ATP1A2 Rebecca Foulger Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.35 ADCY5 Rebecca Foulger Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.34 CLCN1 Rebecca Foulger Classified gene: CLCN1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.34 CLCN1 Rebecca Foulger Added comment: Comment on list classification: Demoted CLCN1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.34 CLCN1 Rebecca Foulger Gene: clcn1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.33 CACNA1S Rebecca Foulger Classified gene: CACNA1S as Red List (low evidence)
Paroxysmal central nervous system disorders v0.33 CACNA1S Rebecca Foulger Added comment: Comment on list classification: Demoted CACNA1S from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.33 CACNA1S Rebecca Foulger Gene: cacna1s has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.32 ATP7B Rebecca Foulger Classified gene: ATP7B as Red List (low evidence)
Paroxysmal central nervous system disorders v0.32 ATP7B Rebecca Foulger Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.31 ATP7B Rebecca Foulger commented on gene: ATP7B: Demoted ATP7B from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.31 ATP2A1 Rebecca Foulger Classified gene: ATP2A1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.31 ATP2A1 Rebecca Foulger Added comment: Comment on list classification: Demoted ATP2A1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.31 ATP2A1 Rebecca Foulger Gene: atp2a1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.30 ATL3 Rebecca Foulger Classified gene: ATL3 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.30 ATL3 Rebecca Foulger Added comment: Comment on list classification: Demoted ATL3 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.30 ATL3 Rebecca Foulger Gene: atl3 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.29 ATL1 Rebecca Foulger Classified gene: ATL1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.29 ATL1 Rebecca Foulger Added comment: Comment on list classification: Demoted ATL1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.29 ATL1 Rebecca Foulger Gene: atl1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.103 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary ataxia with onset in adulthood v1.197 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source Wessex and West Midlands GLH was removed from Region: ISCA-37468-Loss.
Source Brain channelopathy v1.46 was removed from Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Brain channelopathy v1.55 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset dystonia, chorea or related movement disorder v0.106 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Source Other was added to Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.325 TRAPPC6B Rebecca Foulger Publications for gene: TRAPPC6B were set to 28626029; 28397838
Early onset or syndromic epilepsy v1.324 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: The Amber review by Konstantinos Varvagiannis (25 Aug 2019) agrees with the current Amber rating of TRAPPC6B: therefore no further curation required.
Early onset or syndromic epilepsy v1.324 GRIA2 Rebecca Foulger Classified gene: GRIA2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.324 GRIA2 Rebecca Foulger Added comment: Comment on list classification: Changed rating of GRIA2 from Grey to Amber based on Amber post-Webex review from Helen Lord. Currently insufficient evidence for a diagnostic rating.
Early onset or syndromic epilepsy v1.324 GRIA2 Rebecca Foulger Gene: gria2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.323 NUS1 Rebecca Foulger Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.322 NUS1 Rebecca Foulger Classified gene: NUS1 as Green List (high evidence)
Early onset or syndromic epilepsy v1.322 NUS1 Rebecca Foulger Gene: nus1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.321 NUS1 Rebecca Foulger commented on gene: NUS1: Updated rating from Amber to Green based on Green post-Webex review from Helen Lord. Also updated MOI from 'monoallelic' to 'BOTH monoallelic and biallelic' based on Helen's review.
Paediatric or syndromic cardiomyopathy v0.6 TMEM70 Ivone Leong gene: TMEM70 was added
gene: TMEM70 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Paediatric or syndromic cardiomyopathy v0.6 ATPAF2 Ivone Leong gene: ATPAF2 was added
gene: ATPAF2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Paediatric or syndromic cardiomyopathy v0.6 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Paediatric or syndromic cardiomyopathy v0.6 TACO1 Ivone Leong gene: TACO1 was added
gene: TACO1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 SURF1 Ivone Leong gene: SURF1 was added
gene: SURF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Paediatric or syndromic cardiomyopathy v0.6 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 PET100 Ivone Leong gene: PET100 was added
gene: PET100 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 NDUFA4 Ivone Leong gene: NDUFA4 was added
gene: NDUFA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447, 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Paediatric or syndromic cardiomyopathy v0.6 LRPPRC Ivone Leong gene: LRPPRC was added
gene: LRPPRC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Paediatric or syndromic cardiomyopathy v0.6 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX7B 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: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Paediatric or syndromic cardiomyopathy v0.6 COX6B1 Ivone Leong gene: COX6B1 was added
gene: COX6B1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 COX6A1 Ivone Leong gene: COX6A1 was added
gene: COX6A1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Paediatric or syndromic cardiomyopathy v0.6 COX20 Ivone Leong gene: COX20 was added
gene: COX20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 COX15 Ivone Leong gene: COX15 was added
gene: COX15 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000
Paediatric or syndromic cardiomyopathy v0.6 COX14 Ivone Leong gene: COX14 was added
gene: COX14 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 COX10 Ivone Leong gene: COX10 was added
gene: COX10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Paediatric or syndromic cardiomyopathy v0.6 COA6 Ivone Leong gene: COA6 was added
gene: COA6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA6 were set to 25959673; 25339201; 24549041; 22277967
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Paediatric or syndromic cardiomyopathy v0.6 APOPT1 Ivone Leong gene: APOPT1 was added
gene: APOPT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Paediatric or syndromic cardiomyopathy v0.6 UQCRB Ivone Leong gene: UQCRB was added
gene: UQCRB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to 28604960; 25446085; 12709789
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Paediatric or syndromic cardiomyopathy v0.6 UQCC2 Ivone Leong gene: UQCC2 was added
gene: UQCC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 28804536; 24385928
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Paediatric or syndromic cardiomyopathy v0.6 TTC19 Ivone Leong gene: TTC19 was added
gene: TTC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Paediatric or syndromic cardiomyopathy v0.6 LYRM7 Ivone Leong gene: LYRM7 was added
gene: LYRM7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Paediatric or syndromic cardiomyopathy v0.6 CYC1 Ivone Leong gene: CYC1 was added
gene: CYC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Paediatric or syndromic cardiomyopathy v0.6 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
Paediatric or syndromic cardiomyopathy v0.6 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHD were set to 26008905; 24367056
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Paediatric or syndromic cardiomyopathy v0.6 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 22995659; 26642834; 19465911
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Paediatric or syndromic cardiomyopathy v0.6 TMEM126B Ivone Leong gene: TMEM126B was added
gene: TMEM126B was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374773; 27374774
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Paediatric or syndromic cardiomyopathy v0.6 NUBPL Ivone Leong gene: NUBPL was added
gene: NUBPL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Paediatric or syndromic cardiomyopathy v0.6 NDUFV2 Ivone Leong gene: NDUFV2 was added
gene: NDUFV2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Paediatric or syndromic cardiomyopathy v0.6 NDUFV1 Ivone Leong gene: NDUFV1 was added
gene: NDUFV1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Paediatric or syndromic cardiomyopathy v0.6 NDUFS8 Ivone Leong gene: NDUFS8 was added
gene: NDUFS8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Paediatric or syndromic cardiomyopathy v0.6 NDUFS7 Ivone Leong gene: NDUFS7 was added
gene: NDUFS7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Paediatric or syndromic cardiomyopathy v0.6 NDUFS6 Ivone Leong gene: NDUFS6 was added
gene: NDUFS6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Paediatric or syndromic cardiomyopathy v0.6 NDUFS4 Ivone Leong gene: NDUFS4 was added
gene: NDUFS4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Paediatric or syndromic cardiomyopathy v0.6 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Paediatric or syndromic cardiomyopathy v0.6 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Paediatric or syndromic cardiomyopathy v0.6 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Paediatric or syndromic cardiomyopathy v0.6 NDUFB8 Ivone Leong gene: NDUFB8 was added
gene: NDUFB8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571; 27290639
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Paediatric or syndromic cardiomyopathy v0.6 NDUFB3 Ivone Leong gene: NDUFB3 was added
gene: NDUFB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Paediatric or syndromic cardiomyopathy v0.6 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFB11 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: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF8 Ivone Leong gene: NDUFAF8 was added
gene: NDUFAF8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF6 Ivone Leong gene: NDUFAF6 was added
gene: NDUFAF6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF5 Ivone Leong gene: NDUFAF5 was added
gene: NDUFAF5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF4 Ivone Leong gene: NDUFAF4 was added
gene: NDUFAF4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF3 Ivone Leong gene: NDUFAF3 was added
gene: NDUFAF3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF2 Ivone Leong gene: NDUFAF2 was added
gene: NDUFAF2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF1 Ivone Leong gene: NDUFAF1 was added
gene: NDUFAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Paediatric or syndromic cardiomyopathy v0.6 NDUFA9 Ivone Leong gene: NDUFA9 was added
gene: NDUFA9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 22114105; 28671271
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Paediatric or syndromic cardiomyopathy v0.6 NDUFA6 Ivone Leong gene: NDUFA6 was added
gene: NDUFA6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Paediatric or syndromic cardiomyopathy v0.6 NDUFA2 Ivone Leong gene: NDUFA2 was added
gene: NDUFA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Paediatric or syndromic cardiomyopathy v0.6 NDUFA11 Ivone Leong gene: NDUFA11 was added
gene: NDUFA11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Paediatric or syndromic cardiomyopathy v0.6 NDUFA10 Ivone Leong gene: NDUFA10 was added
gene: NDUFA10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Paediatric or syndromic cardiomyopathy v0.6 NDUFA1 Ivone Leong gene: NDUFA1 was added
gene: NDUFA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA1 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: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Paediatric or syndromic cardiomyopathy v0.6 FOXRED1 Ivone Leong gene: FOXRED1 was added
gene: FOXRED1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Paediatric or syndromic cardiomyopathy v0.6 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Early onset or syndromic epilepsy v1.321 ZMIZ1 Rebecca Foulger commented on gene: ZMIZ1: Kept rating as Amber based on Amber post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 ZDHHC9 Rebecca Foulger commented on gene: ZDHHC9: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 WARS2 Rebecca Foulger commented on gene: WARS2: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 VPS11 Rebecca Foulger commented on gene: VPS11: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 VAMP2 Rebecca Foulger commented on gene: VAMP2: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 SNAP25 Rebecca Foulger commented on gene: SNAP25: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 SMARCC2 Rebecca Foulger commented on gene: SMARCC2: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.321 SMARCC2 Rebecca Foulger Phenotypes for gene: SMARCC2 were changed from Global developmental delay; Intellectual disability; neurodevelopmental delay and growth retardation; prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features to Coffin-Siris syndrome 8, 618362; Global developmental delay; Intellectual disability; neurodevelopmental delay and growth retardation; prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features
Early onset or syndromic epilepsy v1.320 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: Kept rating as Amber based on Amber post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.320 RNF13 Rebecca Foulger commented on gene: RNF13: Kept rating as Amber based on Amber post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.320 PPP2CA Rebecca Foulger commented on gene: PPP2CA: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.320 POLG Rebecca Foulger commented on gene: POLG: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.320 POLG Rebecca Foulger changed review comment from: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; to: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.320 PIGB Rebecca Foulger commented on gene: PIGB: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.320 PARS2 Rebecca Foulger commented on gene: PARS2: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.320 PAK1 Rebecca Foulger Publications for gene: PAK1 were set to 30290153
Early onset or syndromic epilepsy v1.319 P4HTM Rebecca Foulger Phenotypes for gene: P4HTM were changed from Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493; Abnormality of the eye; Seizures; Dysautonomia; Central hypotonia; Muscular hypotonia; Hypoventilation; Intellectual disability; Sleep apnea; Global developmental delay to Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493; Seizures; Intellectual disability; Global developmental delay
Early onset or syndromic epilepsy v1.318 P4HTM Rebecca Foulger Phenotypes for gene: P4HTM were changed from Abnormality of the eye; Seizures; Dysautonomia; Central hypotonia; Muscular hypotonia; Hypoventilation; Intellectual disability; Sleep apnea; Global developmental delay to Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493; Abnormality of the eye; Seizures; Dysautonomia; Central hypotonia; Muscular hypotonia; Hypoventilation; Intellectual disability; Sleep apnea; Global developmental delay
Early onset or syndromic epilepsy v1.317 NUS1 Rebecca Foulger Phenotypes for gene: NUS1 were changed from #617082 - ?Congenital disorder of glycosylation, type 1aa; #617831 - Mental retardation, autosomal dominant 55, with seizures; Abnormality of extrapyramidal motor function to ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831; Abnormality of extrapyramidal motor function
Early onset or syndromic epilepsy v1.316 NBEA Rebecca Foulger commented on gene: NBEA: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.316 LSS Rebecca Foulger commented on gene: LSS: Kept rating as Amber based on Amber post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.316 KMT5B Rebecca Foulger commented on gene: KMT5B: Kept rating as Red based on Red post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.316 KMT5B Rebecca Foulger Publications for gene: KMT5B were set to 29276005
Early onset or syndromic epilepsy v1.315 KMT2E Rebecca Foulger commented on gene: KMT2E: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.315 KCNT2 Rebecca Foulger commented on gene: KCNT2: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.315 KCNH5 Rebecca Foulger commented on gene: KCNH5: Kept rating as Red based on Red post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.315 KCNH5 Rebecca Foulger Publications for gene: KCNH5 were set to 23647072
Early onset or syndromic epilepsy v1.314 FUK Rebecca Foulger commented on gene: FUK: Kept rating as Amber based on Amber post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.314 DHPS Rebecca Foulger commented on gene: DHPS: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.314 DEGS1 Rebecca Foulger commented on gene: DEGS1: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.314 CTNNA2 Rebecca Foulger commented on gene: CTNNA2: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.314 CACNA1B Rebecca Foulger commented on gene: CACNA1B: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.314 BCORL1 Rebecca Foulger commented on gene: BCORL1: Kept rating as Red based on Red post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.314 BCORL1 Rebecca Foulger Phenotypes for gene: BCORL1 were changed from Intellectual disability and seizures to Intellectual disability and seizures; Shukla-Vernon syndrome, 301029
Early onset or syndromic epilepsy v1.313 BCORL1 Rebecca Foulger Publications for gene: BCORL1 were set to 30941876
Early onset or syndromic epilepsy v1.312 ATN1 Rebecca Foulger commented on gene: ATN1: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.312 ATN1 Rebecca Foulger Phenotypes for gene: ATN1 were changed from Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494; Global developmental delay; Intellectual disability; Seizures to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494; Global developmental delay; Intellectual disability; Seizures; Generalized hypotonia
Early onset or syndromic epilepsy v1.311 ATN1 Rebecca Foulger Phenotypes for gene: ATN1 were changed from Abnormality of the kidney; Seizures; Hypotonia; Cleft palate; Developmental Delay; Abnormality of the cardiovascular system; Epilepsy; Generalized hypotonia; Feeding difficulties; Intellectual disability; Global developmental delay; Digit Abnormalities to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v1.310 AP2M1 Rebecca Foulger commented on gene: AP2M1: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.310 AP2M1 Rebecca Foulger Mode of pathogenicity for gene: AP2M1 was changed from Other to Other
Early onset or syndromic epilepsy v1.309 ALKBH8 Rebecca Foulger Phenotypes for gene: ALKBH8 were changed from Global developmental delay; Seizures; Intellectual Disability; Developmental Delay; Intellectual disability to Intellectual developmental disorder, autosomal recessive 71, 618504; Global developmental delay; Seizures; Intellectual Disability; Developmental Delay; Intellectual disability
Early onset or syndromic epilepsy v1.308 ACTL6B Rebecca Foulger commented on gene: ACTL6B: Kept rating as Green based on Green post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.308 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Global developmental delay; Intellectual disability; Seizures; Spasticity; epileptic encephalopathy to Epileptic encephalopathy, early infantile, 76, 618468; Global developmental delay; Intellectual disability; Seizures; Spasticity; epileptic encephalopathy
Early onset or syndromic epilepsy v1.307 USP7 Rebecca Foulger Marked gene: USP7 as ready
Early onset or syndromic epilepsy v1.307 USP7 Rebecca Foulger Gene: usp7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.307 USP7 Rebecca Foulger commented on gene: USP7: Kept rating as Amber based on two post-Webex Amber reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.307 TRPM3 Rebecca Foulger Marked gene: TRPM3 as ready
Early onset or syndromic epilepsy v1.307 TRPM3 Rebecca Foulger Gene: trpm3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.307 TRPM3 Rebecca Foulger Publications for gene: TRPM3 were set to 31278393
Early onset or syndromic epilepsy v1.306 TRPM3 Rebecca Foulger commented on gene: TRPM3: Kept rating as Amber based on two post-Webex Amber reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.306 KCND2 Rebecca Foulger commented on gene: KCND2: Kept rating as Red based on two post-Webex Red reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.306 KCND2 Rebecca Foulger Publications for gene: KCND2 were set to 24501278; 16934482
Early onset or syndromic epilepsy v1.305 KCND2 Rebecca Foulger Publications for gene: KCND2 were set to 24501278
Early onset or syndromic epilepsy v1.304 CSNK2A1 Rebecca Foulger commented on gene: CSNK2A1: Kept rating as Red based on post-Webex reviews from Helen Lord and Alison Callaway: Although there is an argument to upgrade to Amber, epilepsy is not a major part of the overall phenotype so on balance kept rating as Red.
Early onset or syndromic epilepsy v1.304 CSNK2A1 Rebecca Foulger Phenotypes for gene: CSNK2A1 were changed from seizures; Okur-Chung neurodevelopmental syndrome, 617062; CSNK2A1 syndrome to Neurodevelopmental abnormalities and dysmorphic features; seizures; Okur-Chung neurodevelopmental syndrome, 617062; CSNK2A1 syndrome
Early onset or syndromic epilepsy v1.303 CSNK2A1 Rebecca Foulger Publications for gene: CSNK2A1 were set to 30655572
Early onset or syndromic epilepsy v1.302 CLCN6 Rebecca Foulger Classified gene: CLCN6 as Red List (low evidence)
Early onset or syndromic epilepsy v1.302 CLCN6 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Red based on post-Webex reviews from Helen Lord and Alison Callaway: the current published association between CLCN6 and seizures is weak.
Early onset or syndromic epilepsy v1.302 CLCN6 Rebecca Foulger Gene: clcn6 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.301 AIMP2 Rebecca Foulger commented on gene: AIMP2: Kept rating as Amber based on post-Webex reviews from Helen Lord and Alison Callaway. Added 'watchlist' tag based on PMID:26795593 who report an additional case but there is uncertainty over the clinical significance of the reported variant.
Early onset or syndromic epilepsy v1.301 AIMP2 Rebecca Foulger Tag watchlist tag was added to gene: AIMP2.
Early onset or syndromic epilepsy v1.301 AIMP2 Rebecca Foulger Phenotypes for gene: AIMP2 were changed from Leukodystrophy, hypomyelinating, 17, 618006; neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis to Epileptic Encephalopathy; Infantile Spasms; Leukodystrophy, hypomyelinating, 17, 618006; neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Early onset or syndromic epilepsy v1.300 AIMP2 Rebecca Foulger Publications for gene: AIMP2 were set to 29215095
Fetal anomalies v0.339 GJB2 Anna de Burca reviewed gene: GJB2: Rating: ; Mode of pathogenicity: None; Publications: 24346921; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.1022 GABRA2 Konstantinos Varvagiannis reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29422393, 29961870, 31032849, 31032848, doi.org/10.1101/678219; Phenotypes: Epileptic encephalopathy, early infantile, 78 (MIM 618557); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.299 GABRA2 Konstantinos Varvagiannis reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29422393, 29961870, 31032849, 31032848, doi.org/10.1101/678219; Phenotypes: Epileptic encephalopathy, early infantile, 78 (MIM 618557); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.299 GABRA2 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.1022 GABRA2 Konstantinos Varvagiannis Deleted their review
Early onset or syndromic epilepsy v1.299 GABRA2 Konstantinos Varvagiannis gene: GABRA2 was added
gene: GABRA2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849; 31032848; doi.org/10.1101/678219
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78 (MIM 618557)
Penetrance for gene: GABRA2 were set to unknown
Review for gene: GABRA2 was set to GREEN
Added comment: Heterozygous pathogenic GABRA2 variants cause Epileptic encephalopathy, early infantile, 78 (MIM 618557) [new OMIM entry].

At least 8 relevant individuals have been reported to date in the following studies:
- Orenstein et al. (2018 - PMID: 29422393) - 1 individual
- Butler et al. (2018 - PMID: 29961870) - 1 subject
- Maljevic et al. (2019 - PMID: 31032849 - 3 unrelated children as well as 2 affected sibs
- Sanchis-Juan et al. (2019 - bioRxiv / https://doi.org/10.1101/678219) - 1 further patient

In almost all affected individuals, the variants were missense and had occurred as de novo events. The 2 sibs reported by Maljevic however, had inherited a missense variant from their unaffected mosaic parent.

Clinical descriptions for individuals from the 3 studies are provided in OMIM and also summarized in the suppl. table 1 by Sanchis-Juan et al. (https://www.biorxiv.org/content/biorxiv/early/2019/06/21/678219/DC2/embed/media-2.xlsx?download=true). Seizures, DD and ID (relevant to the current panel) are among the reported features. Functional studies have been performed for most of the variants and are summarized for each one in the OMIM entry for GABRG2 and the aforementionned table as well.

The following variants have been reported (NM_000807.2): c.1003A>C - p.Asn335His (dn) / c.875C>A - Thr292Lys (dn) / c.871C>G - p.Leu291Val (dn) / c.788T>C - p.Met263Thr (dn) / c.851T>C - p.Val284Ala (dn) / c.975C>A - p.Phe325Leu (inherited from mosaic parent) / c.839C>T - p.Pro280Leu (dn - Sanchis-Juan et al).

As commented by Jenkins and Escayg (2019 - PMID: 31032848 / both among the authors of the 1st report) as well as by Sanchis-Juan et al., both loss- and gain- of function effects explain the pathogenicity of the various reported mutations to date. [In gnomAD GABRA2 has a Z-score for missense variants of 3.13 as well as a pLI of 1].
------
GABRA2 is not associated with any phenotype in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
------
As a result, GABRA2 can be considered for inclusion in the epilepsy and ID panels probably as green (several relevant individuals, several reported variants with supporting functional studies for most, etc.).

[Consider inclusion in other possibly relevant gene panels eg. for ASD which was feature in some patients at relevant age and/or among those evaluated].
Sources: Literature
Intellectual disability v2.1022 GABRA2 Konstantinos Varvagiannis gene: GABRA2 was added
gene: GABRA2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849; 31032848; doi.org/10.1101/678219
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78 (MIM 618557)
Penetrance for gene: GABRA2 were set to unknown
Review for gene: GABRA2 was set to GREEN
Added comment: Heterozygous pathogenic GABRA2 variants cause Epileptic encephalopathy, early infantile, 78 (MIM 618557) [new OMIM entry].

At least 8 relevant individuals have been reported to date in the following studies:
- Orenstein et al. (2018 - PMID: 29422393) - 1 individual
- Butler et al. (2018 - PMID: 29961870) - 1 subject
- Maljevic et al. (2019 - PMID: 31032849 - 3 unrelated children as well as 2 affected sibs
- Sanchis-Juan et al. (2019 - bioRxiv / https://doi.org/10.1101/678219) - 1 further patient

In almost all affected individuals, the variants were missense and had occurred as de novo events. The 2 sibs reported by Maljevic however, had inherited a missense variant from their unaffected mosaic parent.

Clinical descriptions for individuals from the 3 studies are provided in OMIM and also summarized in the suppl. table 1 by Sanchis-Juan et al. (https://www.biorxiv.org/content/biorxiv/early/2019/06/21/678219/DC2/embed/media-2.xlsx?download=true). Seizures, DD and ID (relevant to the current panel) are among the reported features. Functional studies have been performed for most of the variants and are summarized for each one in the OMIM entry for GABRG2 and the aforementionned table as well.

The following variants have been reported (NM_000807.2): c.1003A>C - p.Asn335His (dn) / c.875C>A - Thr292Lys (dn) / c.871C>G - p.Leu291Val (dn) / c.788T>C - p.Met263Thr (dn) / c.851T>C - p.Val284Ala (dn) / c.975C>A - p.Phe325Leu (inherited from mosaic parent) / c.839C>T - p.Pro280Leu (dn - Sanchis-Juan et al).

As commented by Jenkins and Escayg (2019 - PMID: 31032848 / both among the authors of the 1st report) as well as by Sanchis-Juan et al., both loss- and gain- of function effects explain the pathogenicity of the various reported (all) missense mutations. [In gnomAD GABRA2 has a Z-score for missense variants of 3.13 as well as a pLI of 1].
------
GABRA2 is not associated with any phenotype in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
------
As a result, GABRA2 can be considered for inclusion in the epilepsy and ID panels probably as green (several relevant individuals, several reported variants with supporting functional studies for most, etc.).

[Consider inclusion in other possibly relevant gene panels eg. for ASD which was feature in some patients at relevant age and/or among those evaluated].
Sources: Literature
Intellectual disability v2.1022 GABRA5 Konstantinos Varvagiannis reviewed gene: GABRA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961870, 31056671; Phenotypes: Epileptic encephalopathy, early infantile, 79 (MIM 618559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy v1.299 GABRA5 Konstantinos Varvagiannis reviewed gene: GABRA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961870, 31056671; Phenotypes: Epileptic encephalopathy, early infantile, 79 (MIM 618559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.299 GABRA5 Konstantinos Varvagiannis Deleted their review
Early onset or syndromic epilepsy v1.299 GABRA5 Konstantinos Varvagiannis gene: GABRA5 was added
gene: GABRA5 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA5 were set to 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79 (MIM 618559)
Penetrance for gene: GABRA5 were set to unknown
Review for gene: GABRA5 was set to GREEN
Added comment: Heterozygous pathogenic GABRA5 variants cause Epileptic encephalopathy, early infantile, 79 (MIM 618559) [entry recently updated in OMIM].

At least 3 relevant individuals with this diagnosis have been reported to date:

- Butler et al. (2018 - PMID: 29961870) described a 2 y.o. boy with early infantile epileptic encephalopathy (seizure onset at the age of 4m). The boy was found to harbor a de novo missense variant (NM_000810.3:c.880G>C - p.Val294Leu) identified following trio-WGS and confirmed by Sanger sequencing. Studies in HEK293 cells demonstrated expression at the surface and incorporation of the mutant subunit in the channel. The α5(V294L)β2γ2s receptors were 10 times more sensitive to GABA compared to wt, but were more likely to desensitize leading to reduced maximum GABA-evoked currents.

- Hernandez et al. (2019 - PMID: 31056671) reported on 2 unrelated individuals with early-onset epileptic encephalopathy due to de novo GABRA5 variants identified by targeted NGS sequencing (480 epilepsy-related genes):

A 3y 10m male with seizure onset at the age of 4m, severe motor delay and ID, frontotemporal atrophy and thin CC upon MRI imaging was found to harbor a de novo missense variant (NM_000810.3:c.880G>T / p.Val294Phe).

A further unrelated subject (a 7 y.o. male) with seizure onset at the age of 3 months, severe DD and ID and cortical atrophy / thin CC upon MRI imaging was heterozygous for another missense variant which had occurred as a de novo event (NM_000810.3:c.1238C>T - p.Ser413Phe).

Functional studies: Expression of HA-tagged α5(V294F) subunits at dendritic GABAergic synapses of rat hippocampal neurons was decreased compared to wt, in contrast with the expression of α5(S413F) subunits which was similar to wt. As the α5(V294F) appeared accumulated in the soma of the neurons, the authors performed additional studies – using HEK293T cells – to show that while the α5(S413F) spread outside the ER, α5(V294F) subunits localized to the ER. This was suggestive of a trafficking defect/ER retention. Co-expression of wt or mutant HA-tagged subunits, with β3 and γ2 subunits in HEK293T cells was carried out to assess assembly and trafficking to cell membranes. Reduced surface levels as well as total (whole cell lysate) levels were shown for α5(V294F). Surface levels and total levels of the α5(S413F) were not changed compared to wt. Surface levels of the β3 subunit were however lower in the case of α5(S413F), a finding which could be suggestive of a dominant negative effect. Both GABRA5 mutations resulted in decreased GABA-evoked current amplitudes in both neuronal and non-neuronal (HEK293T) cells.
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The corresponding phenotype in OMIM is Epileptic encephalopathy, early infantile, 79 (618559).
GABRA5 is not associated with any phenotype in G2P.

This gene is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).
-------
As a result, GABRA5 can be considered for inclusion in the ID and epilepsy panels probably as green (relevant phenotype, 3 unrelated individuals, 3 variants, supporting functional studies for all variants) or amber.
Sources: Literature
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Marked gene: SLC35A2 as ready
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Gene: slc35a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as XLD based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 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)
Early onset or syndromic epilepsy v1.298 SLC35A2 Rebecca Foulger Publications for gene: SLC35A2 were set to 24115232; 27743886; 30746764; 30584598; 29679388
Early onset or syndromic epilepsy v1.297 SLC1A2 Rebecca Foulger Marked gene: SLC1A2 as ready
Early onset or syndromic epilepsy v1.297 SLC1A2 Rebecca Foulger Gene: slc1a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.297 SLC1A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.297 SLC1A2 Rebecca Foulger Mode of inheritance for gene: SLC1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Marked gene: SLC16A2 as ready
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Gene: slc16a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Mode of inheritance for gene: SLC16A2 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)
Early onset or syndromic epilepsy v1.295 SLC16A2 Rebecca Foulger Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, 300523; AHDS
Early onset or syndromic epilepsy v1.294 SLC16A2 Rebecca Foulger Publications for gene: SLC16A2 were set to 27212794; 15980113
Early onset or syndromic epilepsy v1.293 SLC16A2 Rebecca Foulger Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, 300523
Early onset or syndromic epilepsy v1.292 SLC16A2 Rebecca Foulger Publications for gene: SLC16A2 were set to Maranduba et al (2006) J Med Genet 43: 457_460
Early onset or syndromic epilepsy v1.291 SLC12A5 Rebecca Foulger Marked gene: SLC12A5 as ready
Early onset or syndromic epilepsy v1.291 SLC12A5 Rebecca Foulger Gene: slc12a5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.291 SLC12A5 Rebecca Foulger Phenotypes for gene: SLC12A5 were changed from epilepsy of infancy with migrating focal seizures (EIMFS) to epilepsy of infancy with migrating focal seizures (EIMFS); Epileptic encephalopathy, early infantile, 34, 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685
Early onset or syndromic epilepsy v1.290 SLC12A5 Rebecca Foulger Publications for gene: SLC12A5 were set to PMID: 26333769; 24668262
Early onset or syndromic epilepsy v1.289 SLC12A5 Rebecca Foulger Mode of inheritance for gene: SLC12A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.288 SLC12A5 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'BOTH monoallelic and bialleic, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.288 SLC12A5 Rebecca Foulger Mode of inheritance for gene: SLC12A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.287 PIGA Rebecca Foulger Marked gene: PIGA as ready
Early onset or syndromic epilepsy v1.287 PIGA Rebecca Foulger Gene: piga has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.287 PIGA Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as XLR based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.287 PIGA Rebecca Foulger Mode of inheritance for gene: PIGA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.286 PIGA Rebecca Foulger Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868
Early onset or syndromic epilepsy v1.285 PIGA Rebecca Foulger Publications for gene: PIGA were set to Johnston et al (2012) Am J Hum Genet 90, 295 300
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger Marked gene: NRXN1 as ready
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger Gene: nrxn1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger changed review comment from: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on Post-Webex review by Helen Lord.; to: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger Publications for gene: NRXN1 were set to 21964664; 19896112; 30031152; 23533028
Early onset or syndromic epilepsy v1.283 NRXN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.283 NRXN1 Rebecca Foulger Mode of inheritance for gene: NRXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.282 MED12 Rebecca Foulger Marked gene: MED12 as ready
Early onset or syndromic epilepsy v1.282 MED12 Rebecca Foulger Gene: med12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.282 MED12 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.282 MED12 Rebecca Foulger Mode of inheritance for gene: MED12 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)
Early onset or syndromic epilepsy v1.281 MAGI2 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on Post-Webex review by Helen Lord (AD inheritance was based on deletions including the MAGI2 gene).
Early onset or syndromic epilepsy v1.281 MAGI2 Rebecca Foulger Mode of inheritance for gene: MAGI2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.280 MAGI2 Rebecca Foulger changed review comment from: Comment on mode of inheritance: OMIM lists AR inheritance for 'Nephrotic syndrome, type 15' (MIM:617609). Gene2Phenotype lists 'monoallelic' inheritance for EARLY ONSET EPILEPTIC ENCEPHALOPATHY.; to: Comment on mode of inheritance: OMIM lists AR inheritance for 'Nephrotic syndrome, type 15' (MIM:617609). Gene2Phenotype lists 'monoallelic' inheritance for EARLY ONSET EPILEPTIC ENCEPHALOPATHY based on PMID:18565486 which examines deletions spanning MAGI2.
Early onset or syndromic epilepsy v1.280 IKBKG Rebecca Foulger Marked gene: IKBKG as ready
Early onset or syndromic epilepsy v1.280 IKBKG Rebecca Foulger Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.280 IKBKG Rebecca Foulger Publications for gene: IKBKG were set to 30151858; 28794079; 24339369
Early onset or syndromic epilepsy v1.279 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as XLD based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.279 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG 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)
Early onset or syndromic epilepsy v1.278 IDH2 Rebecca Foulger Marked gene: IDH2 as ready
Early onset or syndromic epilepsy v1.278 IDH2 Rebecca Foulger Gene: idh2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.278 IDH2 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as MONOALLELIC based on post-Webex review from Helen Lord. Note that the rating of IDH2 was not discussed on the group Webex (2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy) because IDH2 has a Green rating on the 'Inborn errors of metabolism' panel, and therefore will be Green on the Epilepsy super panel for R59.
Early onset or syndromic epilepsy v1.278 IDH2 Rebecca Foulger Mode of inheritance for gene: IDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.277 HEPACAM Rebecca Foulger Marked gene: HEPACAM as ready
Early onset or syndromic epilepsy v1.277 HEPACAM Rebecca Foulger Gene: hepacam has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.277 HEPACAM Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as BIALLELIC based on post-Webex review from Helen Lord, and original comment from Zornitza Stark that AD form is not associated with seizures.
Early onset or syndromic epilepsy v1.277 HEPACAM Rebecca Foulger Mode of inheritance for gene: HEPACAM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.276 DEAF1 Rebecca Foulger Marked gene: DEAF1 as ready
Early onset or syndromic epilepsy v1.276 DEAF1 Rebecca Foulger Gene: deaf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.276 DEAF1 Rebecca Foulger Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder 617171 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Early onset or syndromic epilepsy v1.275 DEAF1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on post-Webex reviews from Helen Lord. The original comment from West Midlands, Oxford and Wessex GLH (uploaded for Tracy Lester) also supports biallelic inheritance.
Early onset or syndromic epilepsy v1.275 DEAF1 Rebecca Foulger Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.274 PIGP Konstantinos Varvagiannis changed review comment from: Johnstone et al. (2017 - PMID: 28334793) report on 2 sibs born to non-consanguineous parents of French-Irish ancestry. Both presented with seizures (onset at the age of 2 and 7 weeks respectively), hypotonia and profound DD. Other features included CVI and feeding difficulties. Extensive metabolic testing as well as prior genetic testing (ARX, STXBP1, MECP2, aCGH) in the family were non-diagnostic. WES suggested the presence of 2 PIGP variants with Sanger sequencing used for confirmation and segregation studies.

PIGP encodes a subunit of the enzyme that catalyzes the first step of glycophosphatidylinositol (GPI) anchor biosynthesis. Mutations in other genes whose proteins are in complex with PIGP (PIGA, PIGC, PIGQ, PIGY, DPM2) lead to similar phenotypes. The phenotype overall was also overlapping with the inherited GPI deficiencies (belonging to the broader group of CDGs).

PIGP has 2 isoforms, which differ by 24 amino acids due to utilization of alternative start codons [corresponding to NM_153681.2 (158 aa) and NM_153682.2 (134 aa)].

The variants identified affected both transcripts with the first SNV leading either to loss of the start codon (NM_153682.2:c.2T>C - p.Met1Thr) or to substitution of a methionine at position 25(NM_153681.2:c.74T>C;p.Met25Thr). The second variant led to frameshift in the last exon of both transcripts predicting a longer protein product (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34).

Overall extensive studies demonstrated decreased levels of PIGP mRNA in patient fibroblast, decreased amounts of mutant protein in tranfected HEK293 cells. The decreased levels of GPI-APs further supported the effect of variants :

- mRNA levels in patient fibroblasts were reduced compared to controls. Conclusions could not be drawn from Western blot, since no antibodies could specifically detect PIGP. HEK293 cells transfected of mt or wt HA-tagged PIGP cDNA led to undetectable amounts for the first variant (both M1T/M25T) and a protein product of increased molecular weight for the frameshift one.
- Flow cytometry of patient granulocytes indicated reduced signal of CD16 (a GPI-anchored protein) and FLAER (binding directly to the GPI anchor).
- Reduced levels of GPI-APs were also observed in PIGP deficient HAP1 cells transfected with either wt, or mutant PIGP cDNA (of both isoforms for the M1T/M25T or isoform 2 for the frameshift mutation).

--------

Krenn et al. (2019 - PMID: 31139695) described a patient born to non-consanguineous Polish parents. Features were highly similar to those reported by Johnstone et al. and incl. intractable infantile seizures (onset at 7m), hypotonia, severe DD and feeding difficulties. Metabolic work-up failed to identify an alternative diagnosis. WES revealed homozygosity for the frameshift variant reported by Johnstone et al. Sanger sequencing confirmed the variant and carrier state in both parents. Identified ROH of less than 7 Mb in the WES data, suggested a founder mutation rather than unreported consanguinity. The variant is present 9 times in gnomAD (AF of 3.2e-5 / no homozygotes). Flow cytometry of patient granulocytes, revealed markedly reduced expression of GPI-APs (CD157, CD59, FLAER) compared to parents/controls.

ALP was normal in all aforementioned individuals (probably in line with PIGP being involved in the 1st step of the GPI anchor biosynthesis).

--------

A further individual with phenotype of EIEE-55;GPIBD-14 is reported in LOVD [Individual #00246132]. This individual, born to conanguineous parents, was tested by WES and found to be homozygous for a frameshift variant, also affecting the last exon in both transcripts (NM_153681.2:c.384delA (p.Glu129ArgfsTer7) / NM_153682.2:c.312delA (p.Glu105ArgfsTer7). This was probably in agreement with segregation studies according to the respective entry. The specific variant is reported as pathogenic [variant ID #0000500090].

--------

?Epileptic encephalopathy, early infantile, 55 (MIM 617599) is the corresponding phenotype in OMIM. There is no relevant G2P entry.
PIGP is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).

--------

As a result, PIGP can be considered for inclusion in the ID/epilepsy panels probably as green (3 individuals, role of the gene and similarity to other inherited GPI deficiencies, extensive supporting studies) or amber.

(Please consider inclusion in other possibly relevant panels eg. CDGs, etc).
Sources: Literature; to: Johnstone et al. (2017 - PMID: 28334793) report on 2 sibs born to non-consanguineous parents of French-Irish ancestry. Both presented with seizures (onset at the age of 2 and 7 weeks respectively), hypotonia and profound DD. Other features included CVI and feeding difficulties. Extensive metabolic testing as well as prior genetic testing (ARX, STXBP1, MECP2, aCGH) in the family were non-diagnostic. WES suggested the presence of 2 PIGP variants with Sanger sequencing used for confirmation and segregation studies.

PIGP encodes a subunit of the enzyme that catalyzes the first step of glycophosphatidylinositol (GPI) anchor biosynthesis. Mutations in other genes whose proteins are in complex with PIGP (PIGA, PIGC, PIGQ, PIGY, DPM2) lead to similar phenotypes. The phenotype overall was also overlapping with the inherited GPI deficiencies (belonging to the broader group of CDGs).

PIGP has 2 isoforms, which differ by 24 amino acids due to utilization of alternative start codons [corresponding to NM_153681.2 (158 aa) and NM_153682.2 (134 aa)].

The variants identified affected both transcripts with the first SNV leading either to loss of the start codon (NM_153682.2:c.2T>C - p.Met1Thr) or to substitution of a methionine at position 25(NM_153681.2:c.74T>C;p.Met25Thr). The second variant led to frameshift in the last exon of both transcripts predicting a longer protein product (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34).

Overall extensive studies demonstrated decreased levels of PIGP mRNA in patient fibroblast, decreased amounts of mutant protein in tranfected HEK293 cells. The decreased levels of GPI-APs further supported the effect of variants :

- mRNA levels in patient fibroblasts were reduced compared to controls. Conclusions could not be drawn from Western blot, since no antibodies could specifically detect PIGP. HEK293 cells transfected of mt or wt HA-tagged PIGP cDNA led to undetectable amounts for the first variant (both M1T/M25T) and a protein product of increased molecular weight for the frameshift one.
- Flow cytometry of patient granulocytes indicated reduced signal of CD16 (a GPI-anchored protein) and FLAER (binding directly to the GPI anchor).
- Reduced levels of GPI-APs were also observed in PIGP deficient HAP1 cells transfected with either wt, or mutant PIGP cDNA (of both isoforms for the M1T/M25T or isoform 2 for the frameshift mutation).

--------

Krenn et al. (2019 - PMID: 31139695) described a patient born to non-consanguineous Polish parents. Features were highly similar to those reported by Johnstone et al. and incl. intractable infantile seizures (onset at 7m), hypotonia, severe DD and feeding difficulties. Metabolic work-up failed to identify an alternative diagnosis. WES revealed homozygosity for the frameshift variant reported by Johnstone et al. Sanger sequencing confirmed the variant and carrier state in both parents. Identified ROH of less than 7 Mb in the WES data, suggested a founder mutation rather than unreported consanguinity. The variant is present 9 times in gnomAD (AF of 3.2e-5 / no homozygotes). Flow cytometry of patient granulocytes, revealed markedly reduced expression of GPI-APs (CD157, CD59, FLAER) compared to parents/controls.

ALP was normal in all aforementioned individuals (probably in line with PIGP being involved in the 1st step of the GPI anchor biosynthesis).

--------

A further individual with phenotype of EIEE-55;GPIBD-14 is reported in LOVD [Individual #00246132]. This individual, born to consanguineous parents, was tested by WES and found to be homozygous for a frameshift variant, also affecting the last exon in both transcripts [NM_153681.2:c.384delA (p.Glu129ArgfsTer7) / NM_153682.2:c.312delA (p.Glu105ArgfsTer7)]. This was probably in agreement with segregation studies according to the respective entry. The specific variant is reported as pathogenic [variant ID #0000500090].

--------

?Epileptic encephalopathy, early infantile, 55 (MIM 617599) is the corresponding phenotype in OMIM. There is no relevant G2P entry.
PIGP is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).

--------

As a result, PIGP can be considered for inclusion in the ID/epilepsy panels probably as green (3 individuals, role of the gene and similarity to other inherited GPI deficiencies, extensive supporting studies) or amber.

(Please consider inclusion in other possibly relevant panels eg. CDGs, etc).
Sources: Literature
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Marked gene: CACNA1D as ready
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Gene: cacna1d has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.274 CACNA1D Rebecca Foulger Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.1022 PIGP Konstantinos Varvagiannis gene: PIGP was added
gene: PIGP was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695
Phenotypes for gene: PIGP were set to Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment
Penetrance for gene: PIGP were set to Complete
Review for gene: PIGP was set to GREEN
gene: PIGP was marked as current diagnostic
Added comment: Johnstone et al. (2017 - PMID: 28334793) report on 2 sibs born to non-consanguineous parents of French-Irish ancestry. Both presented with seizures (onset at the age of 2 and 7 weeks respectively), hypotonia and profound DD. Other features included CVI and feeding difficulties. Extensive metabolic testing as well as prior genetic testing (ARX, STXBP1, MECP2, aCGH) in the family were non-diagnostic. WES suggested the presence of 2 PIGP variants with Sanger sequencing used for confirmation and segregation studies.

PIGP encodes a subunit of the enzyme that catalyzes the first step of glycophosphatidylinositol (GPI) anchor biosynthesis. Mutations in other genes whose proteins are in complex with PIGP (PIGA, PIGC, PIGQ, PIGY, DPM2) lead to similar phenotypes. The phenotype overall was also overlapping with the inherited GPI deficiencies (belonging to the broader group of CDGs).

PIGP has 2 isoforms, which differ by 24 amino acids due to utilization of alternative start codons [corresponding to NM_153681.2 (158 aa) and NM_153682.2 (134 aa)].

The variants identified affected both transcripts with the first SNV leading either to loss of the start codon (NM_153682.2:c.2T>C - p.Met1Thr) or to substitution of a methionine at position 25(NM_153681.2:c.74T>C;p.Met25Thr). The second variant led to frameshift in the last exon of both transcripts predicting a longer protein product (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34).

Overall extensive studies demonstrated decreased levels of PIGP mRNA in patient fibroblast, decreased amounts of mutant protein in transfected HEK293 cells. The decreased levels of GPI-APs further supported the effect of variants :

- mRNA levels in patient fibroblasts were reduced compared to controls. Conclusions could not be drawn from Western blot, since no antibodies could specifically detect PIGP. HEK293 cells transfected of mt or wt HA-tagged PIGP cDNA led to undetectable amounts for the first variant (both M1T/M25T) and a protein product of increased molecular weight for the frameshift one.
- Flow cytometry of patient granulocytes indicated reduced signal of CD16 (a GPI-anchored protein) and FLAER (binding directly to the GPI anchor).
- Reduced levels of GPI-APs were also observed in PIGP deficient HAP1 cells transfected with either wt, or mutant PIGP cDNA (of both isoforms for the M1T/M25T or isoform 2 for the frameshift mutation).

--------

Krenn et al. (2019 - PMID: 31139695) described a patient born to non-consanguineous Polish parents. Features were highly similar to those reported by Johnstone et al. and incl. intractable infantile seizures (onset at 7m), hypotonia, severe DD and feeding difficulties. Metabolic work-up failed to identify an alternative diagnosis. WES revealed homozygosity for the frameshift variant reported by Johnstone et al. Sanger sequencing confirmed the variant and carrier state in both parents. Identified ROH of less than 7 Mb in the WES data, suggested a founder mutation rather than unreported consanguinity. The variant is present 9 times in gnomAD (AF of 3.2e-5 / no homozygotes). Flow cytometry of patient granulocytes, revealed markedly reduced expression of GPI-APs (CD157, CD59, FLAER) compared to parents/controls.

ALP was normal in all aforementioned individuals (probably in line with PIGP being involved in the 1st step of the GPI anchor biosynthesis).

--------

A further individual with phenotype of EIEE-55;GPIBD-14 is reported in LOVD [Individual #00246132]. This individual, born to consanguineous parents, was tested by WES and found to be homozygous for a frameshift variant, also affecting the last exon in both transcripts (NM_153681.2:c.384delA (p.Glu129ArgfsTer7) / NM_153682.2:c.312delA (p.Glu105ArgfsTer7). This was probably in agreement with segregation studies according to the respective entry. The specific variant is reported as pathogenic [variant ID #0000500090].

--------

?Epileptic encephalopathy, early infantile, 55 (MIM 617599) is the corresponding phenotype in OMIM. There is no relevant G2P entry.
PIGP is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).

--------

As a result, PIGP can be considered for inclusion in the ID/epilepsy panels probably as green (3 individuals, role of the gene and similarity to other inherited GPI deficiencies, extensive supporting studies) or amber.

(Please consider inclusion in other possibly relevant panels eg. CDGs, etc).
Sources: Literature
Early onset or syndromic epilepsy v1.273 ATRX Rebecca Foulger Marked gene: ATRX as ready
Early onset or syndromic epilepsy v1.273 ATRX Rebecca Foulger Gene: atrx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.273 ATRX Rebecca Foulger Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked to Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580
Early onset or syndromic epilepsy v1.272 PIGP Konstantinos Varvagiannis gene: PIGP was added
gene: PIGP was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695
Phenotypes for gene: PIGP were set to Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment
Penetrance for gene: PIGP were set to Complete
Review for gene: PIGP was set to GREEN
Added comment: Johnstone et al. (2017 - PMID: 28334793) report on 2 sibs born to non-consanguineous parents of French-Irish ancestry. Both presented with seizures (onset at the age of 2 and 7 weeks respectively), hypotonia and profound DD. Other features included CVI and feeding difficulties. Extensive metabolic testing as well as prior genetic testing (ARX, STXBP1, MECP2, aCGH) in the family were non-diagnostic. WES suggested the presence of 2 PIGP variants with Sanger sequencing used for confirmation and segregation studies.

PIGP encodes a subunit of the enzyme that catalyzes the first step of glycophosphatidylinositol (GPI) anchor biosynthesis. Mutations in other genes whose proteins are in complex with PIGP (PIGA, PIGC, PIGQ, PIGY, DPM2) lead to similar phenotypes. The phenotype overall was also overlapping with the inherited GPI deficiencies (belonging to the broader group of CDGs).

PIGP has 2 isoforms, which differ by 24 amino acids due to utilization of alternative start codons [corresponding to NM_153681.2 (158 aa) and NM_153682.2 (134 aa)].

The variants identified affected both transcripts with the first SNV leading either to loss of the start codon (NM_153682.2:c.2T>C - p.Met1Thr) or to substitution of a methionine at position 25(NM_153681.2:c.74T>C;p.Met25Thr). The second variant led to frameshift in the last exon of both transcripts predicting a longer protein product (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34).

Overall extensive studies demonstrated decreased levels of PIGP mRNA in patient fibroblast, decreased amounts of mutant protein in tranfected HEK293 cells. The decreased levels of GPI-APs further supported the effect of variants :

- mRNA levels in patient fibroblasts were reduced compared to controls. Conclusions could not be drawn from Western blot, since no antibodies could specifically detect PIGP. HEK293 cells transfected of mt or wt HA-tagged PIGP cDNA led to undetectable amounts for the first variant (both M1T/M25T) and a protein product of increased molecular weight for the frameshift one.
- Flow cytometry of patient granulocytes indicated reduced signal of CD16 (a GPI-anchored protein) and FLAER (binding directly to the GPI anchor).
- Reduced levels of GPI-APs were also observed in PIGP deficient HAP1 cells transfected with either wt, or mutant PIGP cDNA (of both isoforms for the M1T/M25T or isoform 2 for the frameshift mutation).

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Krenn et al. (2019 - PMID: 31139695) described a patient born to non-consanguineous Polish parents. Features were highly similar to those reported by Johnstone et al. and incl. intractable infantile seizures (onset at 7m), hypotonia, severe DD and feeding difficulties. Metabolic work-up failed to identify an alternative diagnosis. WES revealed homozygosity for the frameshift variant reported by Johnstone et al. Sanger sequencing confirmed the variant and carrier state in both parents. Identified ROH of less than 7 Mb in the WES data, suggested a founder mutation rather than unreported consanguinity. The variant is present 9 times in gnomAD (AF of 3.2e-5 / no homozygotes). Flow cytometry of patient granulocytes, revealed markedly reduced expression of GPI-APs (CD157, CD59, FLAER) compared to parents/controls.

ALP was normal in all aforementioned individuals (probably in line with PIGP being involved in the 1st step of the GPI anchor biosynthesis).

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A further individual with phenotype of EIEE-55;GPIBD-14 is reported in LOVD [Individual #00246132]. This individual, born to conanguineous parents, was tested by WES and found to be homozygous for a frameshift variant, also affecting the last exon in both transcripts (NM_153681.2:c.384delA (p.Glu129ArgfsTer7) / NM_153682.2:c.312delA (p.Glu105ArgfsTer7). This was probably in agreement with segregation studies according to the respective entry. The specific variant is reported as pathogenic [variant ID #0000500090].

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?Epileptic encephalopathy, early infantile, 55 (MIM 617599) is the corresponding phenotype in OMIM. There is no relevant G2P entry.
PIGP is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).

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As a result, PIGP can be considered for inclusion in the ID/epilepsy panels probably as green (3 individuals, role of the gene and similarity to other inherited GPI deficiencies, extensive supporting studies) or amber.

(Please consider inclusion in other possibly relevant panels eg. CDGs, etc).
Sources: Literature
Early onset or syndromic epilepsy v1.272 ATRX Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.272 ATRX Rebecca Foulger Mode of inheritance for gene: ATRX 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)
Early onset or syndromic epilepsy v1.271 ATRX Rebecca Foulger Publications for gene: ATRX were set to 25606380; 11449489; 7697714; 11050622
Early onset or syndromic epilepsy v1.270 ARHGEF9 Rebecca Foulger Marked gene: ARHGEF9 as ready
Early onset or syndromic epilepsy v1.270 ARHGEF9 Rebecca Foulger Gene: arhgef9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.270 ARHGEF9 Rebecca Foulger Publications for gene: ARHGEF9 were set to 21633362; 15215304
Early onset or syndromic epilepsy v1.269 ARHGEF9 Rebecca Foulger Publications for gene: ARHGEF9 were set to
Early onset or syndromic epilepsy v1.268 ARHGEF9 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.268 ARHGEF9 Rebecca Foulger Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger commented on gene: TUBB2A: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway (West Midlands, Oxford and Wessex GLH).
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger Marked gene: SLC25A12 as ready
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger Gene: slc25a12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger commented on gene: SLC25A12: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger Publications for gene: SLC25A12 were set to 24515575; 19641205; 27290639
Early onset or syndromic epilepsy v1.266 KCNMA1 Rebecca Foulger Marked gene: KCNMA1 as ready
Early onset or syndromic epilepsy v1.266 KCNMA1 Rebecca Foulger Gene: kcnma1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.266 KCNMA1 Rebecca Foulger Classified gene: KCNMA1 as Green List (high evidence)
Early onset or syndromic epilepsy v1.266 KCNMA1 Rebecca Foulger Added comment: Comment on list classification: Updated rating of KCNMA1 from Amber to Green based on post-Webex reviews from Helen Lord, Allison Callaway and Konstantinos Varvagiannis.
Early onset or syndromic epilepsy v1.266 KCNMA1 Rebecca Foulger Gene: kcnma1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.265 KCNMA1 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex reviews from Helen Lord and Konstantinos Varvagiannis.
Early onset or syndromic epilepsy v1.265 KCNMA1 Rebecca Foulger Mode of inheritance for gene: KCNMA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger commented on gene: ALPL: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger changed review comment from: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic to 'BIALLELIC' based on Post-Webex review by Helen Lord: AR but not AD Hypophosphatasia associated with seizures.; to: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on Post-Webex review by Helen Lord: AR but not AD Hypophosphatasia is associated with seizures.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic to 'BIALLELIC' based on Post-Webex review by Helen Lord: AR but not AD Hypophosphatasia associated with seizures.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1022 SLC25A12 Konstantinos Varvagiannis reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31403263, 24515575, 19641205, 27290639, 26633542; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.13 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Rare genetic inflammatory skin disorders v0.13 TMEM173 Louise Daugherty commented on gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 TMEM173 Louise Daugherty commented on gene: TMEM173: Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1
Vascular skin disorders v0.12 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Vascular skin disorders v0.12 TMEM173 Louise Daugherty commented on gene: TMEM173
DDG2P v1.80 EPRS Louise Daugherty Tag new-gene-name tag was added to gene: EPRS.
DDG2P v1.80 EPRS Louise Daugherty commented on gene: EPRS
Intellectual disability v2.1022 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Intellectual disability v2.1022 ARSE Louise Daugherty commented on gene: ARSE
DDG2P v1.80 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
DDG2P v1.80 ARSE Louise Daugherty commented on gene: ARSE
Fetal anomalies v0.339 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Fetal anomalies v0.339 ARSE Louise Daugherty commented on gene: ARSE
Likely inborn error of metabolism v1.262 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Likely inborn error of metabolism v1.262 ARSE Louise Daugherty commented on gene: ARSE
Undiagnosed metabolic disorders v1.264 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Undiagnosed metabolic disorders v1.264 ARSE Louise Daugherty commented on gene: ARSE
Skeletal dysplasia v1.193 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Skeletal dysplasia v1.193 ARSE Louise Daugherty commented on gene: ARSE
Pigmentary skin disorders v0.12 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Pigmentary skin disorders v0.12 ARSE Louise Daugherty commented on gene: ARSE
Palmoplantar keratodermas v0.8 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Palmoplantar keratodermas v0.8 ARSE Louise Daugherty commented on gene: ARSE
Limb disorders v1.58 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Limb disorders v1.58 ARSE Louise Daugherty commented on gene: ARSE
Peroxisomal disorders v1.6 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Peroxisomal disorders v1.6 ARSE Louise Daugherty commented on gene: ARSE
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty Deleted their comment
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty commented on gene: ARSE: Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty commented on gene: ARSE
Intellectual disability v2.1022 H3F3B Louise Daugherty Tag new-gene-name tag was added to gene: H3F3B.
Intellectual disability v2.1022 H3F3B Louise Daugherty commented on gene: H3F3B
Early onset or syndromic epilepsy v1.263 H3F3B Louise Daugherty Tag new-gene-name tag was added to gene: H3F3B.
Early onset or syndromic epilepsy v1.263 H3F3B Louise Daugherty commented on gene: H3F3B
Fetal anomalies v0.339 H3F3A Louise Daugherty Tag new-gene-name tag was added to gene: H3F3A.
Fetal anomalies v0.339 H3F3A Louise Daugherty commented on gene: H3F3A
Early onset or syndromic epilepsy v1.263 H3F3A Louise Daugherty Tag new-gene-name tag was added to gene: H3F3A.
Early onset or syndromic epilepsy v1.263 H3F3A Louise Daugherty commented on gene: H3F3A
Intellectual disability v2.1022 H3F3A Louise Daugherty Tag new-gene-name tag was added to gene: H3F3A.
Intellectual disability v2.1022 H3F3A Louise Daugherty commented on gene: H3F3A
Skeletal dysplasia v1.193 ZIC1 Rhoda Akilapa reviewed gene: ZIC1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis; Mode of inheritance: None
DDG2P v1.80 HIST1H4J Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4J.
DDG2P v1.80 HIST1H4J Louise Daugherty commented on gene: HIST1H4J
Skeletal dysplasia v1.193 TCOF1 Rhoda Akilapa commented on gene: TCOF1
Skeletal dysplasia v1.193 TCF12 Rhoda Akilapa reviewed gene: TCF12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis; Mode of inheritance: None
Skeletal dysplasia v1.193 KAT6A Rhoda Akilapa commented on gene: KAT6A
Fetal anomalies v0.339 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
Fetal anomalies v0.339 HIST1H4C Louise Daugherty commented on gene: HIST1H4C
DDG2P v1.80 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
DDG2P v1.80 HIST1H4C Louise Daugherty commented on gene: HIST1H4C
Intellectual disability v2.1022 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
Intellectual disability v2.1022 HIST1H4C Louise Daugherty commented on gene: HIST1H4C: Added new-gene-name tag, new approved HGNC gene symbol for HIST1H4C is H4C3
Skeletal dysplasia v1.193 EFNB1 Rhoda Akilapa commented on gene: EFNB1
Intellectual disability v2.1022 HIST1H4B Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4B.
Intellectual disability v2.1022 HIST1H4B Louise Daugherty commented on gene: HIST1H4B: Added new-gene-name tag, new approved HGNC gene symbol for HIST1H4B is H4C2
DDG2P v1.80 HIST1H4B Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4B.
DDG2P v1.80 HIST1H4B Louise Daugherty commented on gene: HIST1H4B
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 HIST1H1E Louise Daugherty commented on gene: HIST1H1E: Added new-gene-name tag, new approved HGNC gene symbol for HIST1H1E is H1-4
Fetal anomalies v0.339 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Fetal anomalies v0.339 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
DDG2P v1.80 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
DDG2P v1.80 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
Intellectual disability v2.1022 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Intellectual disability v2.1022 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
Intellectual disability v2.1022 HIST3H3 Louise Daugherty Tag new-gene-name tag was added to gene: HIST3H3.
Intellectual disability v2.1022 HIST3H3 Louise Daugherty commented on gene: HIST3H3: Added new-gene-name tag, new approved HGNC gene symbol for HIST3H3 is H3-4
DDG2P v1.80 HIST3H3 Louise Daugherty Tag new-gene-name tag was added to gene: HIST3H3.
DDG2P v1.80 HIST3H3 Louise Daugherty commented on gene: HIST3H3
Familial Hirschsprung Disease v1.6 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Familial Hirschsprung Disease v1.6 KIF1BP Louise Daugherty commented on gene: KIF1BP
Malformations of cortical development v1.171 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Malformations of cortical development v1.171 KIF1BP Louise Daugherty commented on gene: KIF1BP
Severe microcephaly v1.72 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Severe microcephaly v1.72 KIF1BP Louise Daugherty commented on gene: KIF1BP: Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Fetal anomalies v0.339 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Fetal anomalies v0.339 KIF1BP Louise Daugherty commented on gene: KIF1BP
DDG2P v1.80 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
DDG2P v1.80 KIF1BP Louise Daugherty commented on gene: KIF1BP
Clefting v1.59 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Clefting v1.59 KIF1BP Louise Daugherty commented on gene: KIF1BP
Early onset or syndromic epilepsy v1.263 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Early onset or syndromic epilepsy v1.263 KIF1BP Louise Daugherty commented on gene: KIF1BP: Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Intellectual disability v2.1022 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Intellectual disability v2.1022 KIF1BP Louise Daugherty commented on gene: KIF1BP: Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Mitochondrial disorders v1.485 LARS Louise Daugherty Tag new-gene-name tag was added to gene: LARS.
Mitochondrial disorders v1.485 LARS Louise Daugherty commented on gene: LARS
Likely inborn error of metabolism v1.262 LARS Louise Daugherty Tag new-gene-name tag was added to gene: LARS.
Likely inborn error of metabolism v1.262 LARS Louise Daugherty commented on gene: LARS
Hereditary neuropathy v1.333 WARS Louise Daugherty Tag new-gene-name tag was added to gene: WARS.
Hereditary neuropathy v1.333 WARS Louise Daugherty commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1
Glaucoma (developmental) v1.5 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Glaucoma (developmental) v1.5 HARS Louise Daugherty commented on gene: HARS
DDG2P v1.80 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
DDG2P v1.80 HARS Louise Daugherty commented on gene: HARS
Hereditary neuropathy v1.333 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Hereditary neuropathy v1.333 HARS Louise Daugherty commented on gene: HARS: Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
Monogenic hearing loss v2.2 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Monogenic hearing loss v2.2 HARS Louise Daugherty commented on gene: HARS
Retinal disorders v1.161 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Retinal disorders v1.161 HARS Louise Daugherty commented on gene: HARS
Structural eye disease v0.84 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Structural eye disease v0.84 HARS Louise Daugherty commented on gene: HARS
Adult onset leukodystrophy v0.15 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Adult onset leukodystrophy v0.15 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Hereditary spastic paraplegia v1.205 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Hereditary spastic paraplegia v1.205 MARS Louise Daugherty commented on gene: MARS
Childhood onset hereditary spastic paraplegia v1.178 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Childhood onset hereditary spastic paraplegia v1.178 MARS Louise Daugherty commented on gene: MARS
Adult onset hereditary spastic paraplegia v0.155 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Adult onset hereditary spastic paraplegia v0.155 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Adult onset neurodegenerative disorder v1.102 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Adult onset neurodegenerative disorder v1.102 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Hereditary neuropathy v1.333 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Hereditary neuropathy v1.333 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Intellectual disability v2.1022 VARS Louise Daugherty Tag new-gene-name tag was added to gene: VARS.
Intellectual disability v2.1022 VARS Louise Daugherty commented on gene: VARS
Early onset or syndromic epilepsy v1.263 VARS Louise Daugherty Tag new-gene-name tag was added to gene: VARS.
Early onset or syndromic epilepsy v1.263 VARS Louise Daugherty commented on gene: VARS
Inherited white matter disorders v1.71 RARS Louise Daugherty Tag new-gene-name tag was added to gene: RARS.
Inherited white matter disorders v1.71 RARS Louise Daugherty commented on gene: RARS
White matter disorders and cerebral calcification - narrow panel v1.9 RARS Louise Daugherty Tag new-gene-name tag was added to gene: RARS.
White matter disorders and cerebral calcification - narrow panel v1.9 RARS Louise Daugherty commented on gene: RARS
Intellectual disability v2.1022 CARS Louise Daugherty Tag new-gene-name tag was added to gene: CARS.
Intellectual disability v2.1022 CARS Louise Daugherty commented on gene: CARS
DDG2P v1.80 CARS Louise Daugherty Tag new-gene-name tag was added to gene: CARS.
DDG2P v1.80 CARS Louise Daugherty commented on gene: CARS
Neonatal cholestasis v1.4 IARS Louise Daugherty commented on gene: IARS
Severe microcephaly v1.72 IARS Louise Daugherty commented on gene: IARS: Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1
Fetal anomalies v0.339 IARS Louise Daugherty commented on gene: IARS
DDG2P v1.80 IARS Louise Daugherty Tag new-gene-name tag was added to gene: IARS.
DDG2P v1.80 IARS Louise Daugherty commented on gene: IARS
Paediatric disorders - additional genes v0.30 IARS Louise Daugherty commented on gene: IARS
Intellectual disability v2.1022 IARS Louise Daugherty commented on gene: IARS: Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1
Mitochondrial disorders v1.485 IARS Louise Daugherty commented on gene: IARS
Severe microcephaly v1.72 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Severe microcephaly v1.72 QARS Louise Daugherty commented on gene: QARS: Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Likely inborn error of metabolism v1.262 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Likely inborn error of metabolism v1.262 QARS Louise Daugherty commented on gene: QARS
Possible mitochondrial disorder - nuclear genes v1.2 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Possible mitochondrial disorder - nuclear genes v1.2 QARS Louise Daugherty commented on gene: QARS
Fetal anomalies v0.339 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Fetal anomalies v0.339 QARS Louise Daugherty commented on gene: QARS
DDG2P v1.80 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
DDG2P v1.80 QARS Louise Daugherty commented on gene: QARS
Early onset or syndromic epilepsy v1.263 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Early onset or syndromic epilepsy v1.263 QARS Louise Daugherty commented on gene: QARS
Intellectual disability v2.1022 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Intellectual disability v2.1022 QARS Louise Daugherty edited their review of gene: QARS: Added comment: Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1; Changed publications: 28620870, 24656866, 25041233, 25471517, 25432320, 24709618; Changed phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760, Intellectual disability
Mitochondrial disorders v1.485 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Mitochondrial disorders v1.485 QARS Louise Daugherty commented on gene: QARS
Other rare neuromuscular disorders v1.6 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Other rare neuromuscular disorders v1.6 GARS Louise Daugherty commented on gene: GARS
Arthrogryposis v2.43 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Arthrogryposis v2.43 GARS Louise Daugherty commented on gene: GARS
Undiagnosed metabolic disorders v1.264 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Undiagnosed metabolic disorders v1.264 GARS Louise Daugherty commented on gene: GARS
Likely inborn error of metabolism v1.262 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Likely inborn error of metabolism v1.262 GARS Louise Daugherty commented on gene: GARS
Possible mitochondrial disorder - nuclear genes v1.2 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Possible mitochondrial disorder - nuclear genes v1.2 GARS Louise Daugherty commented on gene: GARS
Paediatric motor neuronopathies v1.23 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Paediatric motor neuronopathies v1.23 GARS Louise Daugherty commented on gene: GARS
Hereditary neuropathy v1.333 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Hereditary neuropathy v1.333 GARS Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1
Mitochondrial disorders v1.485 GARS Louise Daugherty Tag treatable tag was added to gene: GARS.
Mitochondrial disorders v1.485 GARS Louise Daugherty commented on gene: GARS
Renal tubulopathies v1.191 SCNN1G Eleanor Williams Publications for gene: SCNN1G were set to 8640238; 29582446
Renal tubulopathies v1.190 SCNN1G Eleanor Williams Classified gene: SCNN1G as Green List (high evidence)
Renal tubulopathies v1.190 SCNN1G Eleanor Williams Added comment: Comment on list classification: Changing rating from Amber to Green as the Liddle syndrome cases are relevant to this panel.
Renal tubulopathies v1.190 SCNN1G Eleanor Williams Gene: scnn1g has been classified as Green List (High Evidence).
Renal tubulopathies v1.189 SCNN1G Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.

Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature.
; to: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.

Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature. More than 3 cases reported.
Renal tubulopathies v1.189 GNA11 Eleanor Williams Classified gene: GNA11 as Green List (high evidence)
Renal tubulopathies v1.189 GNA11 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.189 GNA11 Eleanor Williams Gene: gna11 has been classified as Green List (High Evidence).
Renal tubulopathies v1.188 GNA11 Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. They note that hypercalciuria is not a prominent clinical feature in the affected patients in this kindred (Table 1) or in the two unrelated patients with sporadic hypoparathyroidism due to GNA11 mutations (R181Q and Phe341Leu) recently described by Nesbit et al

PMID: 23802516 - Nesbit et al 2013 - report a kindred with familial hypocalciuric hypercalcemia type 2 with an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia with a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were also detected in two unrelated patients with hypocalcemia. ; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family.

PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. They note that hypercalciuria is not a prominent clinical feature in the affected patients in this kindred or in the two unrelated patients with sporadic hypoparathyroidism due to GNA11 mutations (R181Q and Phe341Leu) recently described by Nesbit et al

PMID: 23802516 - Nesbit et al 2013 - report a kindred with familial hypocalciuric hypercalcemia type 2 with an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia with a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were also detected in two unrelated patients with hypocalcemia.
Lysosomal storage disorder v0.8 SLC17A5 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 LAMP2 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 GALC Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 FUCA1 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.8 GAA Carol Hardy Deleted their comment
Undiagnosed metabolic disorders v1.264 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Undiagnosed metabolic disorders v1.264 KARS Louise Daugherty commented on gene: KARS
Likely inborn error of metabolism v1.262 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Likely inborn error of metabolism v1.262 KARS Louise Daugherty commented on gene: KARS
Possible mitochondrial disorder - nuclear genes v1.2 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Possible mitochondrial disorder - nuclear genes v1.2 KARS Louise Daugherty commented on gene: KARS
Fetal anomalies v0.339 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Fetal anomalies v0.339 KARS Louise Daugherty commented on gene: KARS
Hereditary neuropathy v1.333 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
DDG2P v1.80 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
DDG2P v1.80 KARS Louise Daugherty commented on gene: KARS
Hereditary neuropathy v1.333 KARS Louise Daugherty commented on gene: KARS: Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Monogenic hearing loss v2.2 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Monogenic hearing loss v2.2 KARS Louise Daugherty commented on gene: KARS
Early onset or syndromic epilepsy v1.263 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Early onset or syndromic epilepsy v1.263 KARS Louise Daugherty commented on gene: KARS
Intellectual disability v2.1022 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Intellectual disability v2.1022 KARS Louise Daugherty commented on gene: KARS: Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Mitochondrial disorders v1.485 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Mitochondrial disorders v1.485 KARS Louise Daugherty commented on gene: KARS
Other rare neuromuscular disorders v1.6 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Other rare neuromuscular disorders v1.6 AARS Louise Daugherty commented on gene: AARS
Ataxia and cerebellar anomalies - narrow panel v1.6 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Ataxia and cerebellar anomalies - narrow panel v1.6 AARS Louise Daugherty commented on gene: AARS
Adult onset leukodystrophy v0.15 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Adult onset leukodystrophy v0.15 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Hereditary ataxia v1.202 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Hereditary ataxia v1.202 AARS Louise Daugherty commented on gene: AARS
Adult onset neurodegenerative disorder v1.102 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Adult onset neurodegenerative disorder v1.102 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Fetal anomalies v0.339 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Fetal anomalies v0.339 AARS Louise Daugherty commented on gene: AARS
Paediatric motor neuronopathies v1.23 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Paediatric motor neuronopathies v1.23 AARS Louise Daugherty commented on gene: AARS
DDG2P v1.80 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
DDG2P v1.80 AARS Louise Daugherty commented on gene: AARS
Hereditary neuropathy v1.333 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Hereditary neuropathy v1.333 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Early onset or syndromic epilepsy v1.263 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Early onset or syndromic epilepsy v1.263 AARS Louise Daugherty commented on gene: AARS
Intellectual disability v2.1022 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Intellectual disability v2.1022 AARS Louise Daugherty commented on gene: AARS
Hereditary ataxia with onset in adulthood v1.196 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Hereditary ataxia with onset in adulthood v1.196 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Mitochondrial disorders v1.485 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Intellectual disability v2.1022 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
DDG2P v1.80 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Fetal anomalies v0.339 DARS Louise Daugherty Deleted their comment
Fetal anomalies v0.339 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Possible mitochondrial disorder - nuclear genes v1.2 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Likely inborn error of metabolism v1.262 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Undiagnosed metabolic disorders v1.264 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Adult onset neurodegenerative disorder v1.102 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Adult onset hereditary spastic paraplegia v0.155 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Childhood onset hereditary spastic paraplegia v1.178 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Hereditary spastic paraplegia v1.205 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Inherited white matter disorders v1.71 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Adult onset leukodystrophy v0.15 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
White matter disorders and cerebral calcification - narrow panel v1.9 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
White matter disorders and cerebral calcification - narrow panel v1.9 DARS Louise Daugherty commented on gene: DARS
Adult onset leukodystrophy v0.15 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Inherited white matter disorders v1.71 DARS Louise Daugherty commented on gene: DARS
Hereditary spastic paraplegia v1.205 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Childhood onset hereditary spastic paraplegia v1.178 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Adult onset hereditary spastic paraplegia v0.155 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Adult onset neurodegenerative disorder v1.102 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Undiagnosed metabolic disorders v1.264 DARS Louise Daugherty commented on gene: DARS
Likely inborn error of metabolism v1.262 DARS Louise Daugherty commented on gene: DARS
Possible mitochondrial disorder - nuclear genes v1.2 DARS Louise Daugherty commented on gene: DARS
Fetal anomalies v0.339 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Fetal anomalies v0.339 DARS Louise Daugherty commented on gene: DARS
DDG2P v1.80 DARS Louise Daugherty commented on gene: DARS
Intellectual disability v2.1022 DARS Louise Daugherty commented on gene: DARS
Mitochondrial disorders v1.485 DARS Louise Daugherty commented on gene: DARS
Bilateral congenital or childhood onset cataracts v1.33 EIF2B2 Ivone Leong Classified gene: EIF2B2 as Green List (high evidence)
Bilateral congenital or childhood onset cataracts v1.33 EIF2B2 Ivone Leong Gene: eif2b2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.8 ALG9 Ivone Leong Classified gene: ALG9 as Amber List (moderate evidence)
Polycystic liver disease v0.8 ALG9 Ivone Leong Gene: alg9 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.188 WNK4 Eleanor Williams Classified gene: WNK4 as Green List (high evidence)
Renal tubulopathies v1.188 WNK4 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported
Renal tubulopathies v1.188 WNK4 Eleanor Williams Gene: wnk4 has been classified as Green List (High Evidence).
Renal tubulopathies v1.187 WNK4 Eleanor Williams Publications for gene: WNK4 were set to
Renal tubulopathies v1.186 WNK4 Eleanor Williams Mode of inheritance for gene: WNK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.185 WNK4 Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM.

PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of
which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat; to: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM.

PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat
Renal tubulopathies v1.185 WNK1 Eleanor Williams Classified gene: WNK1 as Amber List (moderate evidence)
Renal tubulopathies v1.185 WNK1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber as two cases (both with deletions) have been reported.
Renal tubulopathies v1.185 WNK1 Eleanor Williams Gene: wnk1 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.184 WNK1 Eleanor Williams Publications for gene: WNK1 were set to
Renal tubulopathies v1.183 WNK1 Eleanor Williams Added comment: Comment on phenotypes: Removed a phenotype that I think is not relevant to this panel.
Renal tubulopathies v1.183 WNK1 Eleanor Williams Phenotypes for gene: WNK1 were changed from Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 (AR) to Pseudohypoaldosteronism, type IIC, 614492
Renal tubulopathies v1.182 WNK1 Eleanor Williams Mode of inheritance for gene: WNK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.181 UMOD Eleanor Williams Classified gene: UMOD as Green List (high evidence)
Renal tubulopathies v1.181 UMOD Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.181 UMOD Eleanor Williams Gene: umod has been classified as Green List (High Evidence).
Renal tubulopathies v1.180 UMOD Eleanor Williams Publications for gene: UMOD were set to
Renal tubulopathies v1.179 UMOD Eleanor Williams Mode of inheritance for gene: UMOD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.178 TRPM6 Eleanor Williams Classified gene: TRPM6 as Green List (high evidence)
Renal tubulopathies v1.178 TRPM6 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.178 TRPM6 Eleanor Williams Gene: trpm6 has been classified as Green List (High Evidence).
Renal tubulopathies v1.177 TRPM6 Eleanor Williams Classified gene: TRPM6 as Red List (low evidence)
Renal tubulopathies v1.177 TRPM6 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.177 TRPM6 Eleanor Williams Gene: trpm6 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.176 TRPM6 Eleanor Williams Publications for gene: TRPM6 were set to 12032568
Renal tubulopathies v1.175 SLC9A3R1 Eleanor Williams Publications for gene: SLC9A3R1 were set to
Renal tubulopathies v1.174 SLC9A3R1 Eleanor Williams Classified gene: SLC9A3R1 as Red List (low evidence)
Renal tubulopathies v1.174 SLC9A3R1 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as hypophosphatemia is covered by the 'R154 Hypophosphataemia or rickets' panel where it is rated amber.
Renal tubulopathies v1.174 SLC9A3R1 Eleanor Williams Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.173 SLC9A3R1 Eleanor Williams changed review comment from: Associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2 #612287 in OMIM.

PubMed: 18784102 - Karim et al 2008 - sequenced the NHERF1 gene (now called SLC9A3R1) in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. They identified three distinct heterozygous missense mutations in the NHERF1 gene in four unrelated patients. All four patients with NHERF1 mutations had TmP/GFR values below the lower limit of the normal range, as well as hypophosphatemia. Patients 1, 3, and 4 also had recurrent nephrolithiasis. The four patients with mutations did not have proximal-tubule dysfunction other than the low TmP/GFR value. The results identify NHERF1 mutations as a cause of renal phosphate loss that may increase the risk of renal stone formation or bone demineralization: the mutations were identified only in patients with TmP/GFR values that were below normal and significantly lower than those in patients in whom mutations were not identified; to: Associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2 #612287 in OMIM.

PubMed: 18784102 - Karim et al 2008 - sequenced the NHERF1 gene (now called SLC9A3R1) in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. They identified three distinct heterozygous missense mutations (328C->G, L110V; 458G->A,R153Q;673G->A,E225K) in the NHERF1 gene in four unrelated patients. All four patients with NHERF1 mutations had TmP/GFR values below the lower limit of the normal range, as well as hypophosphatemia. Patients 1, 3, and 4 also had recurrent nephrolithiasis. The four patients with mutations did not have proximal-tubule dysfunction other than the low TmP/GFR value. The results identify NHERF1 mutations as a cause of renal phosphate loss that may increase the risk of renal stone formation or bone demineralization: the mutations were identified only in patients with TmP/GFR values that were below normal and significantly lower than those in patients in whom mutations were not identified

PMID: 25296721 - Halbritter et al 2015 - identify pathogenic heterozygous variants in SLC9A3R1 in 2 families. c.673G>A, p.Glu225Lys and c.888+2T>C, 5′ splice site (new variant).

PMID: 19073985 - Bergwitz et al 2008 - report that 2 of the variants (328C->G and 458G->A) reported by Karim et al 2008 are listed as single-nucleotide polymorphisms in the National Center for Biotechnology Information dbSNP, Ensembl, and GeneCards databases with an allele frequency of 0.01 and 0.03.

Amber rating suggested.
Renal tubulopathies v1.173 SLC9A3R1 Eleanor Williams Mode of inheritance for gene: SLC9A3R1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.172 SLC5A2 Eleanor Williams Classified gene: SLC5A2 as Green List (high evidence)
Renal tubulopathies v1.172 SLC5A2 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as >3 cases reported.
Renal tubulopathies v1.172 SLC5A2 Eleanor Williams Gene: slc5a2 has been classified as Green List (High Evidence).
Renal tubulopathies v1.171 SLC5A2 Eleanor Williams Publications for gene: SLC5A2 were set to
Renal tubulopathies v1.170 SLC5A2 Eleanor Williams Mode of inheritance for gene: SLC5A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.169 SLC34A3 Eleanor Williams Publications for gene: SLC34A3 were set to
Renal tubulopathies v1.168 SLC34A3 Eleanor Williams Classified gene: SLC34A3 as Red List (low evidence)
Renal tubulopathies v1.168 SLC34A3 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as hypophosphatemia is covered by the 'R154 Hypophosphataemia or rickets' panel.
Renal tubulopathies v1.168 SLC34A3 Eleanor Williams Gene: slc34a3 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.167 SLC34A3 Eleanor Williams Mode of inheritance for gene: SLC34A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.166 SLC34A1 Eleanor Williams Classified gene: SLC34A1 as Red List (low evidence)
Renal tubulopathies v1.166 SLC34A1 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as hypophosphatemia is covered by the 'R154 Hypophosphataemia or rickets' panel.
Renal tubulopathies v1.166 SLC34A1 Eleanor Williams Gene: slc34a1 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.165 SLC34A1 Eleanor Williams Publications for gene: SLC34A1 were set to
Renal tubulopathies v1.164 SLC34A1 Eleanor Williams Mode of inheritance for gene: SLC34A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.163 SLC2A9 Eleanor Williams Classified gene: SLC2A9 as Green List (high evidence)
Renal tubulopathies v1.163 SLC2A9 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.163 SLC2A9 Eleanor Williams Gene: slc2a9 has been classified as Green List (High Evidence).
Renal tubulopathies v1.162 SLC2A9 Eleanor Williams Publications for gene: SLC2A9 were set to
Renal tubulopathies v1.161 SLC2A9 Eleanor Williams Mode of inheritance for gene: SLC2A9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.160 SLC22A12 Eleanor Williams Classified gene: SLC22A12 as Green List (high evidence)
Renal tubulopathies v1.160 SLC22A12 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.160 SLC22A12 Eleanor Williams Gene: slc22a12 has been classified as Green List (High Evidence).
Renal tubulopathies v1.159 SLC22A12 Eleanor Williams Publications for gene: SLC22A12 were set to
Renal tubulopathies v1.158 SLC22A12 Eleanor Williams Mode of inheritance for gene: SLC22A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.157 SCNN1G Eleanor Williams Classified gene: SCNN1G as Amber List (moderate evidence)
Renal tubulopathies v1.157 SCNN1G Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 3 cases of Pseudohypoaldosteronism are linked with possible founder effect mutation, 1 other cases. GMS submitted gene with Pseudohypoaldosteronism phenotype only listed. Variants in the gene also linked with Liddle syndrome 2 which may also be relevant to this panel.
Renal tubulopathies v1.157 SCNN1G Eleanor Williams Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.156 SCNN1G Eleanor Williams Publications for gene: SCNN1G were set to
Renal tubulopathies v1.155 SCNN1G Eleanor Williams Mode of inheritance for gene: SCNN1G was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.154 SCNN1G Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.; to: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.

Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature.
Renal tubulopathies v1.154 SCNN1B Eleanor Williams Classified gene: SCNN1B as Green List (high evidence)
Renal tubulopathies v1.154 SCNN1B Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.154 SCNN1B Eleanor Williams Gene: scnn1b has been classified as Green List (High Evidence).
Renal tubulopathies v1.153 SCNN1B Eleanor Williams Added comment: Comment on mode of inheritance: Mode of inheritance is for Pseudohypoaldosteronism, type I, which is the phenotype listed by the GMS group.
Renal tubulopathies v1.153 SCNN1B Eleanor Williams Mode of inheritance for gene: SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.152 SCNN1B Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S).

PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). .

PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.

PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B.; to: Associated with Liddle syndrome 1 #177200 (AD) and Pseudohypoaldosteronism, type I #264350 (AR) in OMIM.


Liddle syndrome 1 - 7 cases reported in OMIM.

Pseudohypoaldosteronism, type I :
PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S).

PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). .

PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.

PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B.
Renal tubulopathies v1.152 SCNN1B Eleanor Williams Phenotypes for gene: SCNN1B were changed from genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing; Pseudohypoaldosteronism, type I, 264350 to Pseudohypoaldosteronism, type I, 264350
Renal tubulopathies v1.151 SCNN1B Eleanor Williams Publications for gene: SCNN1B were set to
Renal tubulopathies v1.150 SCNN1B Eleanor Williams Mode of inheritance for gene: SCNN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.149 SCNN1B Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S).

PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). .

PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.; to: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S).

PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). .

PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.

PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B.
Renal tubulopathies v1.149 SCNN1A Eleanor Williams Classified gene: SCNN1A as Green List (high evidence)
Renal tubulopathies v1.149 SCNN1A Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.149 SCNN1A Eleanor Williams Gene: scnn1a has been classified as Green List (High Evidence).
Renal tubulopathies v1.148 SCNN1A Eleanor Williams Publications for gene: SCNN1A were set to
Renal tubulopathies v1.147 SCNN1A Eleanor Williams Mode of inheritance for gene: SCNN1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.146 REN Eleanor Williams Classified gene: REN as Green List (high evidence)
Renal tubulopathies v1.146 REN Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported.
Renal tubulopathies v1.146 REN Eleanor Williams Gene: ren has been classified as Green List (High Evidence).
Renal tubulopathies v1.145 REN Eleanor Williams Publications for gene: REN were set to
Renal tubulopathies v1.144 REN Eleanor Williams Added comment: Comment on mode of inheritance: Hyperuricemic nephropathy, familial juvenile 2 shows monoallelic and Renal tubular dysgenesis show biallelic inheritance.
Renal tubulopathies v1.144 REN Eleanor Williams Mode of inheritance for gene: REN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.143 REN Eleanor Williams Mode of inheritance for gene: REN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.142 OCRL Eleanor Williams Publications for gene: OCRL were set to
Renal tubulopathies v1.141 OCRL Eleanor Williams Mode of inheritance for gene: OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal tubulopathies v1.140 OCRL Eleanor Williams Classified gene: OCRL as Red List (low evidence)
Renal tubulopathies v1.140 OCRL Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel.
Renal tubulopathies v1.140 OCRL Eleanor Williams Gene: ocrl has been classified as Red List (Low Evidence).
Renal tubulopathies v1.139 NR3C2 Eleanor Williams Classified gene: NR3C2 as Green List (high evidence)
Renal tubulopathies v1.139 NR3C2 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases have been reported.
Renal tubulopathies v1.139 NR3C2 Eleanor Williams Gene: nr3c2 has been classified as Green List (High Evidence).
Renal tubulopathies v1.138 NR3C2 Eleanor Williams Added comment: Comment on mode of inheritance: Only one report of biallelic mutations, and in that case there were 3 in the patient, and were reported to occur in healthy populations
Renal tubulopathies v1.138 NR3C2 Eleanor Williams Mode of inheritance for gene: NR3C2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.137 NR3C2 Eleanor Williams Publications for gene: NR3C2 were set to
Renal tubulopathies v1.136 NR3C2 Eleanor Williams changed review comment from: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and
Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM.

The gene is also known as MCR.
Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM.; to: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM.

The gene is also known as MCR.

Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM.

No inheritance pattern listed in OMIM. However, most reports are for monoallelic inheritance (PMID: 9662404, 12788847, 16972228, 16954160). The only report of a biallelic case (PMID: 12483305 Arai et al 2003) was found in In a Japanese patient with sporadic PHA. 3 homozygous substitutions were found that had previously been reported to occur in healthy populations. The authors suggested that 2 or more 'functional' polymorphisms, any of which exhibits only slight effects on function alone and is incapable of causing PHA, may in the right allelic combination induce the negative salt conservation characteristic of PHA.
Renal tubulopathies v1.136 MAGED2 Eleanor Williams Classified gene: MAGED2 as Green List (high evidence)
Renal tubulopathies v1.136 MAGED2 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases have been reported.
Renal tubulopathies v1.136 MAGED2 Eleanor Williams Gene: maged2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.56 FLNC Matthew Edwards reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 28356264, 25351925; Phenotypes: arrythmogenic cardiomyopathy, Cardiomyopathy, familial hypertrophic, 26, Cardiomyopathy, familial restrictive 5, Myopathy, myofibrillar, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Renal tubulopathies v1.135 MAGED2 Eleanor Williams Added comment: Comment on mode of inheritance: Note - no cases reported in females to date.
Renal tubulopathies v1.135 MAGED2 Eleanor Williams Mode of inheritance for gene: MAGED2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal tubulopathies v1.134 MAGED2 Eleanor Williams changed review comment from: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM.

Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified.; to: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM.

PMID: 27120771 - Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified.
Renal tubulopathies v1.134 KLHL3 Eleanor Williams Classified gene: KLHL3 as Green List (high evidence)
Renal tubulopathies v1.134 KLHL3 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported.
Renal tubulopathies v1.134 KLHL3 Eleanor Williams Gene: klhl3 has been classified as Green List (High Evidence).
Renal tubulopathies v1.133 KLHL3 Eleanor Williams Publications for gene: KLHL3 were set to
Renal tubulopathies v1.132 KLHL3 Eleanor Williams Mode of inheritance for gene: KLHL3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.131 KLHL3 Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM.
Many reports of cases in OMIM. Both monoallelic and biallelic.; to: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM.
Many reports of cases in OMIM. Both monoallelic and biallelic.

PMID: 22266938 - Boyden et al 2012 - report on a cohort of 52 PHAII kindreds including 126 affected subjects with renal hyperkalemia and otherwise normal renal function; hypertension and acidosis were present in 71% and 82%, respectively. They identified both dominant and recessive mutations in the KLHL3 gene.

PMID: 22406640 - Louis-Dit-Picard et al 2012 - report missense mutations in the KLHL3 gene in affected individuals from 16 families with hyperkalemic hypertension (out of 45 investigated). The variants were present in heterozygosity in 12 of the families and in homozygosity in 4.
Renal tubulopathies v1.131 KCNJ10 Eleanor Williams Classified gene: KCNJ10 as Green List (high evidence)
Renal tubulopathies v1.131 KCNJ10 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported in OMIM.
Renal tubulopathies v1.131 KCNJ10 Eleanor Williams Gene: kcnj10 has been classified as Green List (High Evidence).
Renal tubulopathies v1.130 KCNJ10 Eleanor Williams Publications for gene: KCNJ10 were set to
Renal tubulopathies v1.129 KCNJ10 Eleanor Williams Added comment: Comment on phenotypes: Removed phenotype that does not have renal presentation
Renal tubulopathies v1.129 KCNJ10 Eleanor Williams Phenotypes for gene: KCNJ10 were changed from SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 600791 to SESAME/EAST syndrome, 612780
Renal tubulopathies v1.128 KCNJ10 Eleanor Williams Phenotypes for gene: KCNJ10 were changed from SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 60079 to SESAME/EAST syndrome, 612780; Enlarged vestibular aqueduct, digenic, 600791
Renal tubulopathies v1.127 KCNJ10 Eleanor Williams Mode of inheritance for gene: KCNJ10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.126 HNF1B Eleanor Williams Classified gene: HNF1B as Green List (high evidence)
Renal tubulopathies v1.126 HNF1B Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as many cases reported in OMIM associated with Renal cysts and diabetes syndrome.
Renal tubulopathies v1.126 HNF1B Eleanor Williams Gene: hnf1b has been classified as Green List (High Evidence).
Renal tubulopathies v1.125 HNF1B Eleanor Williams Publications for gene: HNF1B were set to
Renal tubulopathies v1.124 HNF1B Eleanor Williams Mode of inheritance for gene: HNF1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.123 HNF1B Eleanor Williams changed review comment from: Associated with Renal cysts and diabetes syndrome #137920 in OMIM.

Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome.; to: Associated with Renal cysts and diabetes syndrome #137920 in OMIM.

Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome.

Also PMID: 19389850 - Adalat et al 2009- report an index case of a 13 year old boy with renal malformation who presented with tetany and hypomagnesemia. He was found to have a heterozygous HNF1B deletion as did his sister and father who also were found to have cystic kidneys. The sister and brother had hypocalciuria, while the father had hypomagnesemia. Of 91 futher patients with renal malformations in which HNF1B was screened, 21 (23%) had a heterozygous HNF1B mutation. 12 cases had a heterozygous HNF1B deletion c.1_1674del; p.Met1_Trp557del from 10 different families. 9 patients from 8 different families had heterozygous mutations detected by direct sequencing; 3 cases had frame shift mutations, 5 cases from 4 families had splice-site mutations and 1 with a missense mutation. 44% (eight of 18) mut+ patients had hypomagnesemia versus 2% (one of 48) mut− patients.
Early onset or syndromic epilepsy v1.263 KCNA1 Rebecca Foulger Source North West GLH was added to KCNA1.
Early onset or syndromic epilepsy v1.263 SCN9A Rebecca Foulger Source North West GLH was added to SCN9A.
Early onset or syndromic epilepsy v1.263 FLNA Rebecca Foulger Source North West GLH was added to FLNA.
Renal tubulopathies v1.123 GNA11 Eleanor Williams commented on gene: GNA11: Will check with clinicians as to whether this gene is relevant to the panel as it doesn't seem to have a strong renal phenotype.
Renal tubulopathies v1.123 GNA11 Eleanor Williams Publications for gene: GNA11 were set to
Renal tubulopathies v1.122 GNA11 Eleanor Williams Mode of inheritance for gene: GNA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.121 GNA11 Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus.; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. They note that hypercalciuria is not a prominent clinical feature in the affected patients in this kindred (Table 1) or in the two unrelated patients with sporadic hypoparathyroidism due to GNA11 mutations (R181Q and Phe341Leu) recently described by Nesbit et al

PMID: 23802516 - Nesbit et al 2013 - report a kindred with familial hypocalciuric hypercalcemia type 2 with an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia with a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were also detected in two unrelated patients with hypocalcemia.
Early onset or syndromic epilepsy v1.262 KCNA1 Rebecca Foulger commented on gene: KCNA1: Diane Cairns (Manchester University NHS, North West GLH) comments that "I have looked into the variants that we found on our Epilepsy panel in the FLNA, SCN9A and KCNA1 genes. Using ACGS guidelines these variants are all Class 3 or below, we therefore feel that it would be acceptable to remove these genes from the Epilepsy Panel." (personal communication via email to Jane Deller, 2019-09-04)
Early onset or syndromic epilepsy v1.262 SCN9A Rebecca Foulger commented on gene: SCN9A: Diane Cairns (Manchester University NHS, North West GLH) comments that "I have looked into the variants that we found on our Epilepsy panel in the FLNA, SCN9A and KCNA1 genes. Using ACGS guidelines these variants are all Class 3 or below, we therefore feel that it would be acceptable to remove these genes from the Epilepsy Panel." (personal communication via email to Jane Deller, 2019-09-04)
Early onset or syndromic epilepsy v1.262 FLNA Rebecca Foulger commented on gene: FLNA: Diane Cairns (Manchester University NHS, North West GLH) comments that "I have looked into the variants that we found on our Epilepsy panel in the FLNA, SCN9A and KCNA1 genes. Using ACGS guidelines these variants are all Class 3 or below, we therefore feel that it would be acceptable to remove these genes from the Epilepsy Panel." (personal communication via email to Jane Deller, 2019-09-04)
Early onset or syndromic epilepsy v1.262 ARHGEF9 Rebecca Foulger commented on gene: ARHGEF9: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 SLC16A2 Rebecca Foulger commented on gene: SLC16A2: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 PIGA Rebecca Foulger commented on gene: PIGA: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 MED12 Rebecca Foulger commented on gene: MED12: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 MAGI2 Rebecca Foulger commented on gene: MAGI2: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 IDH2 Rebecca Foulger commented on gene: IDH2: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded an Amber rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 CACNA1D Rebecca Foulger commented on gene: CACNA1D: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 NRXN1 Rebecca Foulger commented on gene: NRXN1: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 SLC35A2 Rebecca Foulger commented on gene: SLC35A2: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 SLC1A2 Rebecca Foulger commented on gene: SLC1A2: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 SLC12A5 Rebecca Foulger commented on gene: SLC12A5: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 IKBKG Rebecca Foulger commented on gene: IKBKG: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 HEPACAM Rebecca Foulger commented on gene: HEPACAM: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 DEAF1 Rebecca Foulger commented on gene: DEAF1: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 ATRX Rebecca Foulger commented on gene: ATRX: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.262 GRIA2 Rebecca Foulger edited their review of gene: GRIA2: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 KMT5B Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 KCNH5 Rebecca Foulger reviewed gene: KCNH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 KCND2 Rebecca Foulger reviewed gene: KCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 CSNK2A1 Rebecca Foulger commented on gene: CSNK2A1: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 BCORL1 Rebecca Foulger edited their review of gene: BCORL1: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 ZNF142 Rebecca Foulger reviewed gene: ZNF142: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 ZMIZ1 Rebecca Foulger reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 USP7 Rebecca Foulger edited their review of gene: USP7: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 TRRAP Rebecca Foulger edited their review of gene: TRRAP: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 TRPM3 Rebecca Foulger edited their review of gene: TRPM3: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 SLC35A3 Rebecca Foulger edited their review of gene: SLC35A3: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 RNF13 Rebecca Foulger reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 PAK1 Rebecca Foulger reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 NUS1 Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 LSS Rebecca Foulger reviewed gene: LSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 FUK Rebecca Foulger reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 CLCN6 Rebecca Foulger reviewed gene: CLCN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 AIMP2 Rebecca Foulger reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 AFF3 Rebecca Foulger edited their review of gene: AFF3: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 POLG Rebecca Foulger commented on gene: POLG: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 ZDHHC9 Rebecca Foulger reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 WARS2 Rebecca Foulger reviewed gene: WARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 VPS11 Rebecca Foulger reviewed gene: VPS11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 VAMP2 Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 SNAP25 Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 SMARCC2 Rebecca Foulger edited their review of gene: SMARCC2: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 PPP2CA Rebecca Foulger reviewed gene: PPP2CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 PIGB Rebecca Foulger reviewed gene: PIGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 PARS2 Rebecca Foulger reviewed gene: PARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 P4HTM Rebecca Foulger reviewed gene: P4HTM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 NBEA Rebecca Foulger reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 KMT2E Rebecca Foulger reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 KCNT2 Rebecca Foulger reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 DHPS Rebecca Foulger reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 DEGS1 Rebecca Foulger edited their review of gene: DEGS1: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 CTNNA2 Rebecca Foulger reviewed gene: CTNNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 CACNA1B Rebecca Foulger reviewed gene: CACNA1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 AP2M1 Rebecca Foulger reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 ALKBH8 Rebecca Foulger reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.262 ACTL6B Rebecca Foulger edited their review of gene: ACTL6B: Added comment: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.262 ALPL Rebecca Foulger commented on gene: ALPL: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 EMX2 Rebecca Foulger commented on gene: EMX2: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 NPRL2 Rebecca Foulger commented on gene: NPRL2: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 KCNMA1 Rebecca Foulger commented on gene: KCNMA1: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 TUBB2A Rebecca Foulger commented on gene: TUBB2A: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 SLC25A12 Rebecca Foulger commented on gene: SLC25A12: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.262 HCN2 Rebecca Foulger commented on gene: HCN2: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Renal tubulopathies v1.121 GNA11 Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus.; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus.
Renal tubulopathies v1.121 GNA11 Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature.The basis for this episode of transient diabetes insipidus remains unknown, and no other member of the extended family has ever manifested symptoms of diabetes insipidus.; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus.
Early onset or syndromic epilepsy v1.261 ARHGEF9 Helen Lord reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 SLC16A2 Helen Lord reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 PIGA Helen Lord reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.261 MED12 Helen Lord reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 MAGI2 Helen Lord reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 IDH2 Helen Lord reviewed gene: IDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 CACNA1D Helen Lord reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 NRXN1 Helen Lord reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 SLC35A2 Helen Lord reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 SLC1A2 Helen Lord reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 SLC12A5 Helen Lord reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 IKBKG Helen Lord reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 HEPACAM Helen Lord reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 DEAF1 Helen Lord reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 ATRX Helen Lord reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 GRIA2 Helen Lord reviewed gene: GRIA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 KMT5B Helen Lord reviewed gene: KMT5B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 KCNH5 Helen Lord reviewed gene: KCNH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 KCND2 Helen Lord reviewed gene: KCND2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 CSNK2A1 Helen Lord reviewed gene: CSNK2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 BCORL1 Helen Lord reviewed gene: BCORL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.261 ZNF142 Helen Lord reviewed gene: ZNF142: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 ZMIZ1 Helen Lord reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 USP7 Helen Lord reviewed gene: USP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 TRRAP Helen Lord reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 TRPM3 Helen Lord reviewed gene: TRPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 SLC35A3 Helen Lord reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 RNF13 Helen Lord reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 PAK1 Helen Lord reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 NUS1 Helen Lord reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 LSS Helen Lord reviewed gene: LSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 FUK Helen Lord reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 CLCN6 Helen Lord reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 AIMP2 Helen Lord reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 AFF3 Helen Lord reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 POLG Helen Lord reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 ZDHHC9 Helen Lord reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.261 WARS2 Helen Lord reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 VPS11 Helen Lord reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 VAMP2 Helen Lord reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 SNAP25 Helen Lord reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 SMARCC2 Helen Lord reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 PPP2CA Helen Lord reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 PIGB Helen Lord reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 PARS2 Helen Lord reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 P4HTM Helen Lord reviewed gene: P4HTM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 NBEA Helen Lord reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 KMT2E Helen Lord reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 KCNT2 Helen Lord reviewed gene: KCNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 DHPS Helen Lord reviewed gene: DHPS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 DEGS1 Helen Lord reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 CTNNA2 Helen Lord reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 CACNA1B Helen Lord reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 ATN1 Helen Lord reviewed gene: ATN1: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 AP2M1 Helen Lord reviewed gene: AP2M1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 ALKBH8 Helen Lord reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 ACTL6B Helen Lord reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 ALPL Helen Lord reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 EMX2 Helen Lord reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 NPRL2 Helen Lord reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.261 KCNMA1 Helen Lord reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 TUBB2A Helen Lord reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.261 SLC25A12 Helen Lord reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.261 HCN2 Helen Lord reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.121 GNAS Eleanor Williams changed review comment from: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.

They author say the clinical phenotype suggests a gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR), yet increased serum PTH concentrations indicative of impaired proximal tubular PTH1 receptor (PTH1R) function; to: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.

They authors say the clinical phenotype suggests a gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR), yet increased serum PTH concentrations indicative of impaired proximal tubular PTH1 receptor (PTH1R) function
Renal tubulopathies v1.121 GNAS Eleanor Williams changed review comment from: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.; to: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.

They author say the clinical phenotype suggests a gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR), yet increased serum PTH concentrations indicative of impaired proximal tubular PTH1 receptor (PTH1R) function
Renal tubulopathies v1.121 GNAS Eleanor Williams Mode of inheritance for gene: GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Renal tubulopathies v1.120 GNAS Eleanor Williams Classified gene: GNAS as Amber List (moderate evidence)
Renal tubulopathies v1.120 GNAS Eleanor Williams Added comment: Comment on list classification: 2 cases reported in PMID: 30312418
Renal tubulopathies v1.120 GNAS Eleanor Williams Gene: gnas has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.7 ALG9 Ivone Leong Publications for gene: ALG9 were set to PMID:
Polycystic liver disease v0.6 ALG9 Miranda Durkie gene: ALG9 was added
gene: ALG9 was added to Polycystic liver disease interim. Sources: Literature
Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALG9 were set to PMID:
Phenotypes for gene: ALG9 were set to ADPKD; PCLD
Penetrance for gene: ALG9 were set to unknown
Review for gene: ALG9 was set to AMBER
Added comment: Besse et al (2019) identified 2 LOF pathogenic variants in this candidate gene in a cohort of 122 patients with genetically unresolved ADPKD or PCLD. 1 patient with ADPKD and 1 patient with PCLD (immunerable liver cysts and 7:11 L:R kidney cysts). In vitro cell-based assays used to validate ALG9 loss causing abnormal biogenesis of PC1. They identified further LOF pathogenic variants in 14 additional cases from large population-based cohort where EHR data available. Only 1 of these 14 had liver cysts; partially imaged with 2 cysts (up to 1.1cm) and 4 "too small to characterise" lesions as well as 39 kidney cysts (liver ultrasound data not available for 2/14). Therefore appears to be predominantly polycystic kidney disease gene (though a mild presentation). However finding in 1 patient with classic PCLD may be similar to other genes in pathway where presentation between ADPKD and PCLD is variable. Need further cases before updating rating.
Sources: Literature
Renal tubulopathies v1.119 GATM Eleanor Williams Classified gene: GATM as Green List (high evidence)
Renal tubulopathies v1.119 GATM Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported.
Renal tubulopathies v1.119 GATM Eleanor Williams Gene: gatm has been classified as Green List (High Evidence).
Renal tubulopathies v1.118 GATM Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense variants reported to date. In silico analysis suggests that the variants result in an additional interaction interface
Renal tubulopathies v1.118 GATM Eleanor Williams Mode of pathogenicity for gene: GATM was changed from to None
Renal tubulopathies v1.117 GATM Eleanor Williams Mode of inheritance for gene: GATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.116 GATM Eleanor Williams changed review comment from: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.; to: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I; c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.
Renal tubulopathies v1.116 FXYD2 Eleanor Williams Classified gene: FXYD2 as Amber List (moderate evidence)
Renal tubulopathies v1.116 FXYD2 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 3 cases reported by all with the same variant which is likely a founder effect.
Renal tubulopathies v1.116 FXYD2 Eleanor Williams Gene: fxyd2 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.115 FXYD2 Eleanor Williams changed review comment from: Associated with Hypomagnesemia 2, renal #154020 in OMIM.


PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine.

PMID: 2576584 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect.

3 cases but likely linked by common ancestor as same variant found in all three.; to: Associated with Hypomagnesemia 2, renal #154020 in OMIM.


PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine.

PMID: 25765846 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect.

3 cases but likely linked by common ancestor as same variant found in all three.
Renal tubulopathies v1.115 FXYD2 Eleanor Williams Publications for gene: FXYD2 were set to
Renal tubulopathies v1.114 FXYD2 Eleanor Williams Mode of inheritance for gene: FXYD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.113 CYP24A1 Eleanor Williams Classified gene: CYP24A1 as Green List (high evidence)
Renal tubulopathies v1.113 CYP24A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported in OMIM.
Renal tubulopathies v1.113 CYP24A1 Eleanor Williams Gene: cyp24a1 has been classified as Green List (High Evidence).
Renal tubulopathies v1.112 CYP24A1 Eleanor Williams Added comment: Comment on publications: Publications from OMIM
Renal tubulopathies v1.112 CYP24A1 Eleanor Williams Publications for gene: CYP24A1 were set to
Renal tubulopathies v1.111 CYP24A1 Eleanor Williams Mode of inheritance for gene: CYP24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.110 CUL3 Eleanor Williams Classified gene: CUL3 as Green List (high evidence)
Renal tubulopathies v1.110 CUL3 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than 3 cases reported.
Renal tubulopathies v1.110 CUL3 Eleanor Williams Gene: cul3 has been classified as Green List (High Evidence).
Renal tubulopathies v1.109 CUL3 Eleanor Williams Publications for gene: CUL3 were set to
Renal tubulopathies v1.108 CUL3 Eleanor Williams Mode of inheritance for gene: CUL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.107 CLDN19 Eleanor Williams changed review comment from: Associated with Hypomagnesemia 5, renal, with ocular involvement 248190 in OMIM.

Many cases reported in OMIM.; to: Associated with Hypomagnesemia 5, renal, with ocular involvement 248190 in OMIM.

Many cases reported in OMIM, but note some cases have the same variant - likely founder effect.
Renal tubulopathies v1.107 CLDN19 Eleanor Williams Publications for gene: CLDN19 were set to 17033971; 22422540
Renal tubulopathies v1.106 CLDN19 Eleanor Williams Classified gene: CLDN19 as Green List (high evidence)
Renal tubulopathies v1.106 CLDN19 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than 3 cases reported in OMIM.
Renal tubulopathies v1.106 CLDN19 Eleanor Williams Gene: cldn19 has been classified as Green List (High Evidence).
Renal tubulopathies v1.105 CLDN19 Eleanor Williams Added comment: Comment on publications: Publications added from OMIM
Renal tubulopathies v1.105 CLDN19 Eleanor Williams Publications for gene: CLDN19 were set to
Renal tubulopathies v1.104 CLDN19 Eleanor Williams Mode of inheritance for gene: CLDN19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.103 CLDN16 Eleanor Williams Classified gene: CLDN16 as Green List (high evidence)
Renal tubulopathies v1.103 CLDN16 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Many cases reported in OMIM.
Renal tubulopathies v1.103 CLDN16 Eleanor Williams Gene: cldn16 has been classified as Green List (High Evidence).
Renal tubulopathies v1.102 CLDN16 Eleanor Williams Added comment: Comment on publications: Publications from OMIM.
Renal tubulopathies v1.102 CLDN16 Eleanor Williams Publications for gene: CLDN16 were set to 10390358; 10878661; 16528408; 16501001; 26426912
Renal tubulopathies v1.101 CLDN16 Eleanor Williams Publications for gene: CLDN16 were set to
Renal tubulopathies v1.100 CLDN16 Eleanor Williams Mode of inheritance for gene: CLDN16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.99 CLDN10 Eleanor Williams Classified gene: CLDN10 as Amber List (moderate evidence)
Renal tubulopathies v1.99 CLDN10 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Two cases reported.
Renal tubulopathies v1.99 CLDN10 Eleanor Williams Gene: cldn10 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.98 CLDN10 Eleanor Williams Mode of inheritance for gene: CLDN10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.97 CLCNKA Eleanor Williams Classified gene: CLCNKA as Amber List (moderate evidence)
Renal tubulopathies v1.97 CLCNKA Eleanor Williams Added comment: Comment on list classification: 2 reported cases. But note disease association is digenic.
Renal tubulopathies v1.97 CLCNKA Eleanor Williams Gene: clcnka has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.96 CLCNKA Eleanor Williams Added comment: Comment on mode of inheritance: Digenic recessive with CLCNKB variants.
Renal tubulopathies v1.96 CLCNKA Eleanor Williams Mode of inheritance for gene: CLCNKA was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.95 CLCN5 Eleanor Williams Mode of inheritance for gene: CLCN5 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)
Paediatric or syndromic cardiomyopathy v0.4 SPRED1 Ivone Leong gene: SPRED1 was added
gene: SPRED1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Paediatric or syndromic cardiomyopathy v0.4 SOS2 Ivone Leong Source Expert List was added to SOS2.
Mode of pathogenicity for gene SOS2 was changed from to Other - please provide details in the comments
Added phenotypes Noonan syndrome 9 616559 for gene: SOS2
Publications for gene SOS2 were changed from 25795793; 26173643 to 26173643; 25795793
Paediatric or syndromic cardiomyopathy v0.4 SOS1 Ivone Leong Source Expert List was added to SOS1.
Mode of pathogenicity for gene SOS1 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
Added phenotypes Noonan syndrome 4 610733 for gene: SOS1
Publications for gene SOS1 were changed from 17586837; 17143285; PMID: 19438935; 17143282 to 19438935; 17143285; 17143282; 17586837
Paediatric or syndromic cardiomyopathy v0.4 SHOC2 Ivone Leong Source Expert List was added to SHOC2.
Mode of pathogenicity for gene SHOC2 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
Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2
Publications for gene SHOC2 were changed from 22528146; 23918763; PMID: 19684605 to 19684605; 22528146; 23918763
Paediatric or syndromic cardiomyopathy v0.4 RIT1 Ivone Leong Source Expert List was added to RIT1.
Mode of pathogenicity for gene RIT1 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
Added phenotypes Noonan syndrome 8 615355 for gene: RIT1
Publications for gene RIT1 were changed from 24939608; PMID: 23791108; 25124994 to 25124994; 23791108; 24939608
Paediatric or syndromic cardiomyopathy v0.4 RAF1 Ivone Leong Source Expert List was added to RAF1.
Mode of pathogenicity for gene RAF1 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
Added phenotypes Noonan syndrome 5 611553; LEOPARD syndrome 2 611554 for gene: RAF1
Publications for gene RAF1 were changed from PMID: 17603483; 17603482 to 17603483; 17603482
Paediatric or syndromic cardiomyopathy v0.4 PTPN11 Ivone Leong Source Expert List was added to PTPN11.
Mode of pathogenicity for gene PTPN11 was changed from to Other - please provide details in the comments
Added phenotypes LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11
Publications for gene PTPN11 were changed from 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870 to 17603483; 15384080; 15240615; 16263833; 18678287; 12529711; 17497712; 12634870; 11704759
Paediatric or syndromic cardiomyopathy v0.4 PPP1CB Ivone Leong Source Expert List was added to PPP1CB.
Added phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 28211982; 27264673; 27681385
Paediatric or syndromic cardiomyopathy v0.4 NRAS Ivone Leong Source Expert List was added to NRAS.
Mode of pathogenicity for gene NRAS 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
Added phenotypes CFC Syndrome; Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224 for gene: NRAS
Publications for gene NRAS were changed from 19775298; PMID: 19966803 to 19775298; 19966803
Paediatric or syndromic cardiomyopathy v0.4 NF1 Ivone Leong Source Expert List was added to NF1.
Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1
Publications for gene NF1 were changed from 12707950; 19845691; PMID: 16380919 to 12707950; 16380919; 19845691
Paediatric or syndromic cardiomyopathy v0.4 MAP2K2 Ivone Leong Source Expert List was added to MAP2K2.
Mode of pathogenicity for gene MAP2K2 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
Added phenotypes Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2
Publications for gene MAP2K2 were changed from PMID: 21396583; 23379592 to 23379592; 21396583
Paediatric or syndromic cardiomyopathy v0.4 MAP2K1 Ivone Leong Source Expert List was added to MAP2K1.
Mode of pathogenicity for gene MAP2K1 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
Added phenotypes CFC syndrome; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome for gene: MAP2K1
Publications for gene MAP2K1 were changed from 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association).
Paediatric or syndromic cardiomyopathy v0.4 LZTR1 Ivone Leong gene: LZTR1 was added
gene: LZTR1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 29469822; 25795793
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Paediatric or syndromic cardiomyopathy v0.4 KRAS Ivone Leong Source Expert List was added to KRAS.
Mode of pathogenicity for gene KRAS 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
Added phenotypes Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942 for gene: KRAS
Paediatric or syndromic cardiomyopathy v0.4 HRAS Ivone Leong Source Expert List was added to HRAS.
Mode of pathogenicity for gene HRAS 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
Added phenotypes Costello syndrome for gene: HRAS
Publications for gene HRAS were changed from PMID: 16170316; 21396583; 16969868; 16443854 to 16170316; 16443854; 21396583; 16969868
Paediatric or syndromic cardiomyopathy v0.4 CBL Ivone Leong Source Expert List was added to CBL.
Mode of pathogenicity for gene CBL 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
Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL
Publications for gene CBL were changed from 20543203; 19571318; PMID: 20619386 to 20543203; 19571318; 20619386
Paediatric or syndromic cardiomyopathy v0.4 BRAF Ivone Leong Source Expert List was added to BRAF.
Mode of pathogenicity for gene BRAF 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
Added phenotypes Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707 for gene: BRAF
Publications for gene BRAF were changed from 21396583; PMID: 19206169 to 21396583; 19206169
Surfactant deficiency v0.28 CSF2RB Louise Daugherty Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Surfactant deficiency v0.27 TERT Louise Daugherty Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Respiratory ciliopathies including non-CF bronchiectasis v0.154 TTC25 Louise Daugherty Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary 35, 617092
Respiratory ciliopathies including non-CF bronchiectasis v0.153 TTC25 Louise Daugherty Publications for gene: TTC25 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.152 TTC25 Louise Daugherty Mode of inheritance for gene: TTC25 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.3 Ivone Leong Panel status changed from internal to public
Renal tubulopathies v1.94 CLCN5 Eleanor Williams Classified gene: CLCN5 as Red List (low evidence)
Renal tubulopathies v1.94 CLCN5 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel.
Renal tubulopathies v1.94 CLCN5 Eleanor Williams Gene: clcn5 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v0.1 TMPO Ivone Leong gene: TMPO was added
gene: TMPO was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant
Paediatric or syndromic cardiomyopathy v0.1 TGFB3 Ivone Leong gene: TGFB3 was added
gene: TGFB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1
Paediatric or syndromic cardiomyopathy v0.1 RASA2 Ivone Leong gene: RASA2 was added
gene: RASA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA2 were set to PMID: 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Paediatric or syndromic cardiomyopathy v0.1 PDLIM3 Ivone Leong gene: PDLIM3 was added
gene: PDLIM3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: PDLIM3 was set to Unknown
Paediatric or syndromic cardiomyopathy v0.1 NKX2-5 Ivone Leong gene: NKX2-5 was added
gene: NKX2-5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH
Mode of inheritance for gene: NKX2-5 was set to Unknown
Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Paediatric or syndromic cardiomyopathy v0.1 NEBL Ivone Leong gene: NEBL was added
gene: NEBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v0.1 MIB1 Ivone Leong gene: MIB1 was added
gene: MIB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7
Paediatric or syndromic cardiomyopathy v0.1 LAMA4 Ivone Leong gene: LAMA4 was added
gene: LAMA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v0.1 ILK Ivone Leong gene: ILK was added
gene: ILK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: ILK was set to Unknown
Paediatric or syndromic cardiomyopathy v0.1 EMD Ivone Leong gene: EMD was added
gene: EMD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: EMD 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: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Paediatric or syndromic cardiomyopathy v0.1 DTNA Ivone Leong gene: DTNA was added
gene: DTNA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,
Paediatric or syndromic cardiomyopathy v0.1 CTF1 Ivone Leong gene: CTF1 was added
gene: CTF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.1 COA5 Ivone Leong gene: COA5 was added
gene: COA5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA5 were set to 27604308
Phenotypes for gene: COA5 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Paediatric or syndromic cardiomyopathy v0.1 TTR Ivone Leong gene: TTR was added
gene: TTR was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to syndromic HCM
Paediatric or syndromic cardiomyopathy v0.1 TAB2 Ivone Leong gene: TAB2 was added
gene: TAB2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber
Mode of inheritance for gene: TAB2 was set to
Paediatric or syndromic cardiomyopathy v0.1 MYPN Ivone Leong gene: MYPN was added
gene: MYPN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Cardiomypathy, familial hypertrophic, 22,; Cardiomyopathy, dilated, 1KK
Paediatric or syndromic cardiomyopathy v0.1 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Cataracts; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities; Intellectual disability
Paediatric or syndromic cardiomyopathy v0.1 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869; Cardiomyopathy, dilated, 1II,
Paediatric or syndromic cardiomyopathy v0.1 ANKRD1 Ivone Leong gene: ANKRD1 was added
gene: ANKRD1 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber,South West GLH
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant
Paediatric or syndromic cardiomyopathy v0.1 ACTA1 Ivone Leong gene: ACTA1 was added
gene: ACTA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Phenotypes for gene: ACTA1 were set to Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1 255310
Paediatric or syndromic cardiomyopathy v0.1 VCL Ivone Leong gene: VCL was added
gene: VCL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W
Paediatric or syndromic cardiomyopathy v0.1 TTN Ivone Leong gene: TTN was added
gene: TTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G
Paediatric or syndromic cardiomyopathy v0.1 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3 610505
Paediatric or syndromic cardiomyopathy v0.1 TPM1 Ivone Leong gene: TPM1 was added
gene: TPM1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Cardiomyopathy, familial hypertrophic, 3; Cardiomyopathy, dilated, 1Y; Left ventricular noncompaction 9,
Paediatric or syndromic cardiomyopathy v0.1 TNNT2 Ivone Leong gene: TNNT2 was added
gene: TNNT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,
Paediatric or syndromic cardiomyopathy v0.1 TNNI3 Ivone Leong gene: TNNI3 was added
gene: TNNI3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TNNI3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNI3 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Cardiomyopathy, dilated, 2A,
Paediatric or syndromic cardiomyopathy v0.1 TNNC1 Ivone Leong gene: TNNC1 was added
gene: TNNC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated, 1Z; Cardiomyopathy, familial hypertrophic, 13,
Paediatric or syndromic cardiomyopathy v0.1 TMEM43 Ivone Leong gene: TMEM43 was added
gene: TMEM43 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302
Paediatric or syndromic cardiomyopathy v0.1 TCAP Ivone Leong gene: TCAP was added
gene: TCAP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 21530252; 23479141
Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N
Paediatric or syndromic cardiomyopathy v0.1 TAZ Ivone Leong gene: TAZ was added
gene: TAZ was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH
Mode of inheritance for gene: TAZ was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TAZ were set to 27604308
Phenotypes for gene: TAZ were set to Disorders of mitochondrial lipid metabolism; Dilated Cardiomyopathy, X-Linked; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; Barth syndrome, 302060; Left Ventricular Noncompaction Cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
Paediatric or syndromic cardiomyopathy v0.1 SOS2 Ivone Leong gene: SOS2 was added
gene: SOS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9
Paediatric or syndromic cardiomyopathy v0.1 SOS1 Ivone Leong gene: SOS1 was added
gene: SOS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 17586837; 17143285; PMID: 19438935; 17143282
Phenotypes for gene: SOS1 were set to Noonan syndrome 4; syndromic HCM; Noonan syndrome
Paediatric or syndromic cardiomyopathy v0.1 SLC25A4 Ivone Leong gene: SLC25A4 was added
gene: SLC25A4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport; Hypertrophic cardiomyopathy; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Disorders of mitochondrial DNA maintenance and integrity
Paediatric or syndromic cardiomyopathy v0.1 SLC25A20 Ivone Leong gene: SLC25A20 was added
gene: SLC25A20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Paediatric or syndromic cardiomyopathy v0.1 SLC22A5 Ivone Leong gene: SLC22A5 was added
gene: SLC22A5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC22A5 were set to 24816252; 27604308
Phenotypes for gene: SLC22A5 were set to DCM; Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; HCM, mixed; Carnitine transporter deficiency (primary carnitine deficiency)
Paediatric or syndromic cardiomyopathy v0.1 SHOC2 Ivone Leong gene: SHOC2 was added
gene: SHOC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 22528146; 23918763; PMID: 19684605
Phenotypes for gene: SHOC2 were set to syndromic HCM; Noonan-like syndrome with loose anagen hair
Paediatric or syndromic cardiomyopathy v0.1 SGSH Ivone Leong gene: SGSH was added
gene: SGSH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIA
Paediatric or syndromic cardiomyopathy v0.1 SGCD Ivone Leong gene: SGCD was added
gene: SGCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L
Paediatric or syndromic cardiomyopathy v0.1 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Cardiomyopathy, dilated, 1GG, 613642; Mitochondrial Respiratory Chain Complex II Deficiency; Leigh syndrome, 256000; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial respiratory chain complex II deficiency, 252011; Isolated complex II deficiency; Cardiomyopathy, dilated, 1GG
Paediatric or syndromic cardiomyopathy v0.1 SCO2 Ivone Leong gene: SCO2 was added
gene: SCO2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 27604308
Phenotypes for gene: SCO2 were set to Isolated complex IV deficiency; Mitochondrial Diseases; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Respiratory Chain Complex IV Deficiency
Paediatric or syndromic cardiomyopathy v0.1 SCN5A Ivone Leong gene: SCN5A was added
gene: SCN5A was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SCN5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN5A were set to 24317018; doi:10. 1007/ s12265-016-9673-5
Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Long QT syndrome; Brugada syndrome; Cardiomyopathy, dilated, 1E; Arrhythmogenic right ventricular cardiomyopathy
Paediatric or syndromic cardiomyopathy v0.1 RYR2 Ivone Leong gene: RYR2 was added
gene: RYR2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2, 600996; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
Paediatric or syndromic cardiomyopathy v0.1 RIT1 Ivone Leong gene: RIT1 was added
gene: RIT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 24939608; PMID: 23791108; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8
Paediatric or syndromic cardiomyopathy v0.1 RBM20 Ivone Leong gene: RBM20 was added
gene: RBM20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
Paediatric or syndromic cardiomyopathy v0.1 RAF1 Ivone Leong gene: RAF1 was added
gene: RAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to PMID: 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome 5; syndromic HCM; LEOPARD syndrome; LEOPARD syndrome 2
Paediatric or syndromic cardiomyopathy v0.1 PTPN11 Ivone Leong gene: PTPN11 was added
gene: PTPN11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome
Paediatric or syndromic cardiomyopathy v0.1 PRKAG2 Ivone Leong gene: PRKAG2 was added
gene: PRKAG2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLHSouth West GLH,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 194200
Phenotypes for gene: PRKAG2 were set to Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Cardiomyopathy, familial hypertrophic 6,; syndromic HCM
Paediatric or syndromic cardiomyopathy v0.1 PPP1R13L Ivone Leong gene: PPP1R13L was added
gene: PPP1R13L was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 15661756; 28864777; 19016676; 28069640; 25691752
Phenotypes for gene: PPP1R13L were set to sudden cardiac death; cardio-cutaneous syndrome
Paediatric or syndromic cardiomyopathy v0.1 PPP1CB Ivone Leong gene: PPP1CB was added
gene: PPP1CB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Paediatric or syndromic cardiomyopathy v0.1 PPA2 Ivone Leong gene: PPA2 was added
gene: PPA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Paediatric or syndromic cardiomyopathy v0.1 PNPLA2 Ivone Leong gene: PNPLA2 was added
gene: PNPLA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA2 were set to DCM; Neutral lipid storage disease with myopathy NLSDM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
Paediatric or syndromic cardiomyopathy v0.1 PLN Ivone Leong gene: PLN was added
gene: PLN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P; Cardiomyopathy, familial hypertrophic, 18,
Paediatric or syndromic cardiomyopathy v0.1 PKP2 Ivone Leong gene: PKP2 was added
gene: PKP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9
Paediatric or syndromic cardiomyopathy v0.1 PCCB Ivone Leong gene: PCCB was added
gene: PCCB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 27604308
Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); DCM; Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Propionicacidemia; Propionic aciduria; Propionicacidemia 606054; Propionic acidemia; Propionic aciduria (Organic acidurias)
Paediatric or syndromic cardiomyopathy v0.1 PCCA Ivone Leong gene: PCCA was added
gene: PCCA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 27604308
Phenotypes for gene: PCCA were set to DCM; Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Propionicacidemia; Propionic aciduria; Propionicacidemia 606054; Propionic acidemia; Propionic aciduria (Organic acidurias); metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
Paediatric or syndromic cardiomyopathy v0.1 NRAS Ivone Leong gene: NRAS was added
gene: NRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19775298; PMID: 19966803
Phenotypes for gene: NRAS were set to CFC Syndrome; Noonan syndrome; syndromic HCM; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome
Paediatric or syndromic cardiomyopathy v0.1 NF1 Ivone Leong gene: NF1 was added
gene: NF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 12707950; 19845691; PMID: 16380919
Phenotypes for gene: NF1 were set to Neurofibromatosis syndrome 1; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis-Noonan Syndrome
Paediatric or syndromic cardiomyopathy v0.1 NEXN Ivone Leong gene: NEXN was added
gene: NEXN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC; Cardiomyopathy, familial hypertrophic, 20,
Paediatric or syndromic cardiomyopathy v0.1 NAGLU Ivone Leong gene: NAGLU was added
gene: NAGLU was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
Paediatric or syndromic cardiomyopathy v0.1 MYL3 Ivone Leong gene: MYL3 was added
gene: MYL3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8,
Paediatric or syndromic cardiomyopathy v0.1 MYL2 Ivone Leong gene: MYL2 was added
gene: MYL2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
Paediatric or syndromic cardiomyopathy v0.1 MYH7 Ivone Leong gene: MYH7 was added
gene: MYH7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH7 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,
Paediatric or syndromic cardiomyopathy v0.1 MYH6 Ivone Leong gene: MYH6 was added
gene: MYH6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated, 1EE; Cardiomyopathy, familial hypertrophic, 14
Paediatric or syndromic cardiomyopathy v0.1 MYBPC3 Ivone Leong gene: MYBPC3 was added
gene: MYBPC3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy; Left ventricular noncompaction 10,
Paediatric or syndromic cardiomyopathy v0.1 MUT Ivone Leong gene: MUT was added
gene: MUT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 27604308
Phenotypes for gene: MUT were set to DCM; Methylmalonic aciduria, mut(0) type 251000; Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonyl-CoA mutase deficiency (Organic acidurias); metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Paediatric or syndromic cardiomyopathy v0.1 MRPL44 Ivone Leong gene: MRPL44 was added
gene: MRPL44 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Paediatric or syndromic cardiomyopathy v0.1 MMACHC Ivone Leong gene: MMACHC was added
gene: MMACHC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400; DCM; Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Hypertrophic-hypocontractile cardiomyopathy
Paediatric or syndromic cardiomyopathy v0.1 MLYCD Ivone Leong gene: MLYCD was added
gene: MLYCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 27604308
Phenotypes for gene: MLYCD were set to 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); malonic aciduria; Hypertrophic-hypocontractile cardiomyopathy; Malonyl-CoA decarboxylase deficiency; Mild clinical features. Developmental delay, epilepsy; Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); HCM
Paediatric or syndromic cardiomyopathy v0.1 MAP2K2 Ivone Leong gene: MAP2K2 was added
gene: MAP2K2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to PMID: 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome
Paediatric or syndromic cardiomyopathy v0.1 MAP2K1 Ivone Leong gene: MAP2K1 was added
gene: MAP2K1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583
Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome
Paediatric or syndromic cardiomyopathy v0.1 LMNA Ivone Leong gene: LMNA was added
gene: LMNA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 15622532; 18551513; 15148145
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, AD, 181350; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic; Congenital Muscular Dystrophy, LMNA-related (Dominant); Cardiomyopathy, dilated, 1A
Paediatric or syndromic cardiomyopathy v0.1 LDB3 Ivone Leong gene: LDB3 was added
gene: LDB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C
Paediatric or syndromic cardiomyopathy v0.1 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
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)
Publications for gene: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to syndromic HCM; Danon disease
Paediatric or syndromic cardiomyopathy v0.1 KRAS Ivone Leong gene: KRAS was added
gene: KRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to PMID: 21396583
Phenotypes for gene: KRAS were set to Noonan syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome 3
Paediatric or syndromic cardiomyopathy v0.1 JUP Ivone Leong gene: JUP was added
gene: JUP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12
Paediatric or syndromic cardiomyopathy v0.1 IDUA Ivone Leong gene: IDUA was added
gene: IDUA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 27604308
Phenotypes for gene: IDUA were set to MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis Is, 607016; Hurler syndrome; Mucopolysaccharidosis Ih/s, 607015; Scheie syndrome; Mucopolysaccharidosis, Type I; Hurler-Scheie syndrome; Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1H
Paediatric or syndromic cardiomyopathy v0.1 IDS Ivone Leong gene: IDS was added
gene: IDS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II
Paediatric or syndromic cardiomyopathy v0.1 IDH2 Ivone Leong gene: IDH2 was added
gene: IDH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 20847235; 24049096
Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2; D-2-hydroxyglutaric aciduria 2, 613657
Paediatric or syndromic cardiomyopathy v0.1 HRAS Ivone Leong gene: HRAS was added
gene: HRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to PMID: 16170316; 21396583; 16969868; 16443854
Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM
Paediatric or syndromic cardiomyopathy v0.1 HGSNAT Ivone Leong gene: HGSNAT was added
gene: HGSNAT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Retinitis Pigmentosa 73; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
Paediatric or syndromic cardiomyopathy v0.1 HFE Ivone Leong gene: HFE was added
gene: HFE was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to DCM; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); Haemochromatosis; Hemochromatosis, 235200; Hemochromatosis; HCM
Paediatric or syndromic cardiomyopathy v0.1 HADHB Ivone Leong gene: HADHB was added
gene: HADHB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 27604308
Phenotypes for gene: HADHB were set to Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; Mitochondrial Trifunctional Protein deficiency; HCM
Paediatric or syndromic cardiomyopathy v0.1 HADHA Ivone Leong gene: HADHA was added
gene: HADHA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 27604308
Phenotypes for gene: HADHA were set to Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; Mitochondrial Trifunctional Protein deficiency; HCM
Paediatric or syndromic cardiomyopathy v0.1 GUSB Ivone Leong gene: GUSB was added
gene: GUSB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 27604308
Phenotypes for gene: GUSB were set to MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis VII, 253220; MUCOPOLYSACCHARIDOSIS TYPE 7; syndromic HCM; Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII
Paediatric or syndromic cardiomyopathy v0.1 GNS Ivone Leong gene: GNS was added
gene: GNS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis Type III
Paediatric or syndromic cardiomyopathy v0.1 GLRA1 Ivone Leong gene: GLRA1 was added
gene: GLRA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, 149400
Paediatric or syndromic cardiomyopathy v0.1 GLB1 Ivone Leong gene: GLB1 was added
gene: GLB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); syndromic HCM; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type II, 230600; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV
Paediatric or syndromic cardiomyopathy v0.1 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH
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)
Publications for gene: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, 301500; HCM is a late complication in adults, also found in female carriers; Limb pain, angiokeratom; syndromic HCM; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry Disease; Fabry disease; HCM
Paediatric or syndromic cardiomyopathy v0.1 GBE1 Ivone Leong gene: GBE1 was added
gene: GBE1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to DCM; Glycogen Storage Disease Type IV; Hypertrophic-hypocontractile cardiomyopathy; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease IV, 232500
Paediatric or syndromic cardiomyopathy v0.1 GALNS Ivone Leong gene: GALNS was added
gene: GALNS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Paediatric or syndromic cardiomyopathy v0.1 GAA Ivone Leong gene: GAA was added
gene: GAA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Hypotonia, muscle weakness, progressive respiratory failure; syndromic HCM; HCM, mixed; Glycogen storage disease II, 232300; Glycogen storage disease type II (Pompe disease)
Paediatric or syndromic cardiomyopathy v0.1 FKTN Ivone Leong gene: FKTN was added
gene: FKTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 27604308
Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Cardiomyopathy, dilated, 1X; Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Paediatric or syndromic cardiomyopathy v0.1 FHL1 Ivone Leong gene: FHL1 was added
gene: FHL1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
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)
Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Paediatric or syndromic cardiomyopathy v0.1 FAH Ivone Leong gene: FAH was added
gene: FAH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I; Tyrosinaemia type 1 (fumarylactoacetase deficiency); HCM
Paediatric or syndromic cardiomyopathy v0.1 EYA4 Ivone Leong gene: EYA4 was added
gene: EYA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J
Paediatric or syndromic cardiomyopathy v0.1 ETFDH Ivone Leong gene: ETFDH was added
gene: ETFDH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 24816252; 27604308
Phenotypes for gene: ETFDH were set to Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIC; Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; HCM
Paediatric or syndromic cardiomyopathy v0.1 ETFB Ivone Leong gene: ETFB was added
gene: ETFB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation); HCM
Paediatric or syndromic cardiomyopathy v0.1 ETFA Ivone Leong gene: ETFA was added
gene: ETFA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM
Paediatric or syndromic cardiomyopathy v0.1 EPG5 Ivone Leong gene: EPG5 was added
gene: EPG5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 23838600; 26917586; 25331754; 23674064; 26395118; 28624465
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Paediatric or syndromic cardiomyopathy v0.1 DSP Ivone Leong gene: DSP was added
gene: DSP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8
Paediatric or syndromic cardiomyopathy v0.1 DSG2 Ivone Leong gene: DSG2 was added
gene: DSG2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10
Paediatric or syndromic cardiomyopathy v0.1 DSC2 Ivone Leong gene: DSC2 was added
gene: DSC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11
Paediatric or syndromic cardiomyopathy v0.1 DOLK Ivone Leong gene: DOLK was added
gene: DOLK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 23890587; 17273964; 22242004
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type Im 610768; syndromic DCM
Paediatric or syndromic cardiomyopathy v0.1 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 27426421; 27604308; 16055927; 27928778; 22797137
Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V
Paediatric or syndromic cardiomyopathy v0.1 DMD Ivone Leong gene: DMD was added
gene: DMD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DMD 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: DMD were set to Duchenne muscular dystrophy, 310200; Dilated Cardiomyopathy, X-Linked; Cardiomyopathy, dilated, 3B; Becker muscular dystrophy, 300376
Paediatric or syndromic cardiomyopathy v0.1 DES Ivone Leong gene: DES was added
gene: DES was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I,
Paediatric or syndromic cardiomyopathy v0.1 CSRP3 Ivone Leong gene: CSRP3 was added
gene: CSRP3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12; Cardiomyopathy, dilated, 1M
Paediatric or syndromic cardiomyopathy v0.1 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 24816252; 27604308
Phenotypes for gene: CPT2 were set to DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); HCM, mixed; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649
Paediatric or syndromic cardiomyopathy v0.1 CPS1 Ivone Leong gene: CPS1 was added
gene: CPS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 24816252; 27604308
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Paediatric or syndromic cardiomyopathy v0.1 CBL Ivone Leong gene: CBL was added
gene: CBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 20543203; 19571318; PMID: 20619386
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Paediatric or syndromic cardiomyopathy v0.1 BRAF Ivone Leong gene: BRAF was added
gene: BRAF was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 21396583; PMID: 19206169
Phenotypes for gene: BRAF were set to Noonan Syndrome; syndromic HCM; LEOPARD syndrome 3; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous Syndrome
Paediatric or syndromic cardiomyopathy v0.1 BAG3 Ivone Leong gene: BAG3 was added
gene: BAG3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH
Paediatric or syndromic cardiomyopathy v0.1 B3GAT3 Ivone Leong gene: B3GAT3 was added
gene: B3GAT3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27604308
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Paediatric or syndromic cardiomyopathy v0.1 ARSB Ivone Leong gene: ARSB was added
gene: ARSB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 27604308
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VI
Paediatric or syndromic cardiomyopathy v0.1 AGL Ivone Leong gene: AGL was added
gene: AGL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL 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
Phenotypes for gene: AGL were set to Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease type IIIa (debrancher enzyme deficiency); syndromic HCM; Glycogen storage disease IIIb, 232400; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; Glycogen Storage Disease; Glycogen Storage Disease Type III; Glycogen storage disease IIIa, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type III, Cori (Glycogen storage disorders); HCM
Paediatric or syndromic cardiomyopathy v0.1 ACTN2 Ivone Leong gene: ACTN2 was added
gene: ACTN2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant
Paediatric or syndromic cardiomyopathy v0.1 ACTC1 Ivone Leong gene: ACTC1 was added
gene: ACTC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11; Cardiomyopathy, dilated, 1R; Left Ventricular Noncompaction Cardiomyopathy; Left ventricular noncompaction 4
Paediatric or syndromic cardiomyopathy v0.1 ACADVL Ivone Leong gene: ACADVL was added
gene: ACADVL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
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
Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); syndromic HCM; Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; HCM
Paediatric or syndromic cardiomyopathy v0.1 ABCC9 Ivone Leong gene: ABCC9 was added
gene: ABCC9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O
Paediatric or syndromic cardiomyopathy v0.1 AARS2 Ivone Leong gene: AARS2 was added
gene: AARS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Renal tubulopathies v1.93 CASR Eleanor Williams Classified gene: CASR as Green List (high evidence)
Renal tubulopathies v1.93 CASR Eleanor Williams Added comment: Comment on list classification: Promoting from red to green as there are sufficient cases reported in OMIM.
Renal tubulopathies v1.93 CASR Eleanor Williams Gene: casr has been classified as Green List (High Evidence).
Renal tubulopathies v1.92 CASR Eleanor Williams Added comment: Comment on publications: Publications from OMIM
Renal tubulopathies v1.92 CASR Eleanor Williams Publications for gene: CASR were set to
Renal tubulopathies v1.91 CASR Eleanor Williams Mode of inheritance for gene: CASR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.90 ATP1A1 Eleanor Williams Classified gene: ATP1A1 as Green List (high evidence)
Renal tubulopathies v1.90 ATP1A1 Eleanor Williams Added comment: Comment on list classification: Promoting red to green as there are 3 cases plus some functional data.
Renal tubulopathies v1.90 ATP1A1 Eleanor Williams Gene: atp1a1 has been classified as Green List (High Evidence).
Renal tubulopathies v1.89 ATP1A1 Eleanor Williams Phenotypes for gene: ATP1A1 were changed from Renal hypomagnesemia, refractory seizures and intellectual disability (no OMIM number); Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 to Hypomagnesemia, seizures, and mental retardation 2 618314; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Renal tubulopathies v1.88 ATP1A1 Eleanor Williams Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.87 AP2S1 Eleanor Williams Classified gene: AP2S1 as Green List (high evidence)
Renal tubulopathies v1.87 AP2S1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases to rate green.
Renal tubulopathies v1.87 AP2S1 Eleanor Williams Gene: ap2s1 has been classified as Green List (High Evidence).
Renal tubulopathies v1.86 AP2S1 Eleanor Williams Publications for gene: AP2S1 were set to
Renal tubulopathies v1.85 AP2S1 Eleanor Williams Mode of inheritance for gene: AP2S1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.84 EHHADH Eleanor Williams Classified gene: EHHADH as Amber List (moderate evidence)
Renal tubulopathies v1.84 EHHADH Eleanor Williams Added comment: Comment on list classification: 1 family plus functional data which is sufficient evidence to leave amber.
Renal tubulopathies v1.84 EHHADH Eleanor Williams Gene: ehhadh has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v0.0 Ivone Leong Added Panel Cardiomyopathies - including childhood onset
Set list of related panels to Paediatric or syndromic cardiomyopathy
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease
Primary lymphoedema v1.121 SHANK3 Ivone Leong Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232
Primary lymphoedema v1.120 PMM2 Ivone Leong Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Primary lymphoedema v1.119 TSC2 Ivone Leong Phenotypes for gene: TSC2 were changed from to ?Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis, somatic 606690; Tuberous sclerosis-2 613254
Primary lymphoedema v1.118 TSC1 Ivone Leong Phenotypes for gene: TSC1 were changed from to Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis 606690; Tuberous sclerosis-1 191100
Primary lymphoedema v1.117 TSC1 Ivone Leong Classified gene: TSC1 as Green List (high evidence)
Primary lymphoedema v1.117 TSC1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).
Primary lymphoedema v1.117 TSC1 Ivone Leong Gene: tsc1 has been classified as Green List (High Evidence).
Primary lymphoedema v1.116 TSC2 Ivone Leong Classified gene: TSC2 as Green List (high evidence)
Primary lymphoedema v1.116 TSC2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).
Primary lymphoedema v1.116 TSC2 Ivone Leong Gene: tsc2 has been classified as Green List (High Evidence).
Primary lymphoedema v1.115 NSD1 Ivone Leong Classified gene: NSD1 as Green List (high evidence)
Primary lymphoedema v1.115 NSD1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).
Primary lymphoedema v1.115 NSD1 Ivone Leong Gene: nsd1 has been classified as Green List (High Evidence).
Primary lymphoedema v1.114 RASA1 Ivone Leong Classified gene: RASA1 as Green List (high evidence)
Primary lymphoedema v1.114 RASA1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).
Primary lymphoedema v1.114 RASA1 Ivone Leong Gene: rasa1 has been classified as Green List (High Evidence).
Amelogenesis imperfecta v2.0 Eleanor Williams promoted panel to version 2.0
Amelogenesis imperfecta v1.17 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Progressive cardiac conduction disease v0.27 NKX2-5 Ivone Leong Classified gene: NKX2-5 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.27 NKX2-5 Ivone Leong Gene: nkx2-5 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.26 TBX3 Ivone Leong Classified gene: TBX3 as Red List (low evidence)
Progressive cardiac conduction disease v0.26 TBX3 Ivone Leong Gene: tbx3 has been classified as Red List (Low Evidence).
Progressive cardiac conduction disease v0.25 TBX3 Ivone Leong Classified gene: TBX3 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.25 TBX3 Ivone Leong Gene: tbx3 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.24 TBX5 Ivone Leong Classified gene: TBX5 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.24 TBX5 Ivone Leong Gene: tbx5 has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.23 EMD Ivone Leong Classified gene: EMD as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.23 EMD Ivone Leong Gene: emd has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.22 DES Ivone Leong Classified gene: DES as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.22 DES Ivone Leong Gene: des has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.21 LMNA Ivone Leong Classified gene: LMNA as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.21 LMNA Ivone Leong Gene: lmna has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.20 HCN4 Ivone Leong Classified gene: HCN4 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.20 HCN4 Ivone Leong Gene: hcn4 has been classified as Amber List (Moderate Evidence).
Osteogenesis imperfecta v2.0 Eleanor Williams promoted panel to version 2.0
Osteogenesis imperfecta v1.53 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Ehlers Danlos syndrome with a likely monogenic cause v2.0 Eleanor Williams promoted panel to version 2.0
Dilated and arrhythmogenic cardiomyopathy v0.37 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 RYR2 Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.37 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.64 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Dilated and arrhythmogenic cardiomyopathy v0.36 TMEM43 Ivone Leong gene: TMEM43 was added
gene: TMEM43 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM43 were set to 23812740; 27532257
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Dilated and arrhythmogenic cardiomyopathy v0.36 RYR2 Ivone Leong gene: RYR2 was added
gene: RYR2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR2 were set to 20301310
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2
Dilated and arrhythmogenic cardiomyopathy v0.36 PKP2 Ivone Leong gene: PKP2 was added
gene: PKP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 23500315; 27532257
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular dysplasia 9 (609040)
Dilated and arrhythmogenic cardiomyopathy v0.36 JUP Ivone Leong gene: JUP was added
gene: JUP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: JUP were set to 23500315; 27532257
Phenotypes for gene: JUP were set to Naxos disease (601214); Arrhythmogenic right ventricular dysplasia 12; Arrhythmogenic right ventricular dysplasia 12 (611528)
Dilated and arrhythmogenic cardiomyopathy v0.36 DSP Ivone Leong gene: DSP was added
gene: DSP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 23500315; 27532257
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic (609638); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Arrhythmogenic right ventricular dysplasia 8 (607450); Keratosis palmoplantaris striata II (612908); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
Dilated and arrhythmogenic cardiomyopathy v0.36 DSG2 Ivone Leong gene: DSG2 was added
gene: DSG2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSG2 were set to 23500315; 27532257
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10; Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
Dilated and arrhythmogenic cardiomyopathy v0.36 DSC2 Ivone Leong gene: DSC2 was added
gene: DSC2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 23500315; 27532257
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 (610476)
Dilated and arrhythmogenic cardiomyopathy v0.35 DES Ivone Leong Classified gene: DES as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.35 DES Ivone Leong Added comment: Comment on list classification: DES is a green gene on the Arrhythmogenic cardiomyopathy (code: 134, version 1.25). It has been promoted from amber to green in this panel as the GMS Cardiology Specialist Group decided that all green genes that are present on the Arrhythmogenic cardiomyopathy panel should also be green on this panel because of the overlap in clinical presentation.
Dilated and arrhythmogenic cardiomyopathy v0.35 DES Ivone Leong Gene: des has been classified as Green List (High Evidence).
Common craniosynostosis syndromes v1.0 Eleanor Williams promoted panel to version 1.0
Common craniosynostosis syndromes v0.15 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Pancreatitis v2.0 Ivone Leong promoted panel to version 2.0
Pancreatitis v1.13 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Adult onset dystonia, chorea or related movement disorder v0.105 KIAA1161 Louise Daugherty changed review comment from: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green.; to: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green. Adult onset (range twenties to fifties)
Adult onset dystonia, chorea or related movement disorder v0.105 KIAA1161 Louise Daugherty edited their review of gene: KIAA1161: Changed phenotypes: Autosomal Recessive Primary Familial Brain Calcification, Basal ganglia calcification, idiopathic, 7, autosomal recessive, Abnormal movements, Dystonia
Structural basal ganglia disorders v1.17 KIAA1161 Louise Daugherty edited their review of gene: KIAA1161: Changed phenotypes: Autosomal Recessive Primary Familial Brain Calcification, Basal ganglia calcification, idiopathic, 7, autosomal recessive, Calcifications in the basal ganglia
Structural basal ganglia disorders v1.17 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Calcifications in the basal ganglia
Adult onset dystonia, chorea or related movement disorder v0.105 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Abnormal movements; Dystonia
Structural basal ganglia disorders v1.16 KIAA1161 Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence)
Structural basal ganglia disorders v1.16 KIAA1161 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green.
Structural basal ganglia disorders v1.16 KIAA1161 Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.104 KIAA1161 Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.104 KIAA1161 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green.
Adult onset dystonia, chorea or related movement disorder v0.104 KIAA1161 Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence).
Pancreatitis v1.12 CPA1 Ivone Leong commented on gene: CPA1: CPA1 will remain amber until further evidence can be provided before this will be promoted to green gene status.
Adult onset dystonia, chorea or related movement disorder v0.103 KIAA1161 Louise Daugherty commented on gene: KIAA1161: Publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: 30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7.
Structural basal ganglia disorders v1.15 KIAA1161 Louise Daugherty commented on gene: KIAA1161: Publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: 30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7.
Pancreatitis v1.12 CTRC Ivone Leong commented on gene: CTRC: CTRC will remain amber until further evidence can be provided before this will be promoted to green gene status.
Intestinal failure or congenital diarrhoea v1.0 Ivone Leong promoted panel to version 1.0
Intestinal failure or congenital diarrhoea v0.32 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Non-acute porphyrias v1.0 Ivone Leong promoted panel to version 1.0
Non-acute porphyrias v0.14 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Cholestasis v1.0 Ivone Leong promoted panel to version 1.0
Cholestasis v0.27 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Ectodermal dysplasia v0.20 KRT25 Catherine Snow Phenotypes for gene: KRT25 were changed from to Woolly hair, autosomal recessive 3, 616760
Ectodermal dysplasia v0.19 KRT25 Catherine Snow reviewed gene: KRT25: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.19 DHX40 Catherine Snow Phenotypes for gene: DHX40 were changed from to Corneal dystrophy, posterior polymorphous, 4, 618031; Deafness, autosomal dominant 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029
Ectodermal dysplasia v0.18 GRHL2 Catherine Snow reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.18 DHX40 Catherine Snow reviewed gene: DHX40: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.18 CREBBP Catherine Snow edited their review of gene: CREBBP: Changed rating: AMBER
Ectodermal dysplasia v0.18 DHX30 Catherine Snow reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.18 CREBBP Catherine Snow Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, 180849
Ectodermal dysplasia v0.17 CREBBP Catherine Snow commented on gene: CREBBP
Ectodermal dysplasia v0.17 WNT7A Catherine Snow Phenotypes for gene: WNT7A were changed from to Fuhrmann syndrome, 228930
Ectodermal dysplasia v0.16 WNT7A Catherine Snow reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v0.16 AR Catherine Snow Phenotypes for gene: AR were changed from to Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633; Spinal and bulbar muscular atrophy of Kennedy, 313200
Ectodermal dysplasia v0.15 AR Catherine Snow reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, 300068, Androgen insensitivity, partial, with or without breast cancer, 312300, Hypospadias 1, X-linked, 300633, Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: None
Unexplained young onset end-stage renal disease v0.20 Eleanor Williams List of related panels changed from to R257
Cholestasis v0.26 USP53 Ivone Leong Phenotypes for gene: USP53 were changed from to Paediatric cholestatic liver disease
Cholestasis v0.25 USP53 Ivone Leong Mode of inheritance for gene: USP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.83 Eleanor Williams List of related panels changed from Renal tubular acidosis to Renal tubular acidosis; R198
Cystic renal disease v3.1 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Renal ciliopathies v1.0 Eleanor Williams promoted panel to version 1.0
Renal ciliopathies v0.5 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Congenital muscular dystrophy v1.60 POGLUT1 Ivone Leong Tag watchlist tag was added to gene: POGLUT1.
Pigmentary skin disorders v0.12 RASA2 Catherine Snow gene: RASA2 was added
gene: RASA2 was added to Pigmentary skin disorders. Sources: Other
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA2 were set to 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Pigmentary skin disorders v0.12 A2ML1 Catherine Snow gene: A2ML1 was added
gene: A2ML1 was added to Pigmentary skin disorders. Sources: Expert Review Red,Other
Mode of inheritance for gene: A2ML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: A2ML1 were set to 24939586; 27942422; 25862627
Phenotypes for gene: A2ML1 were set to Noonan syndrome
Pigmentary skin disorders v0.12 SOS2 Catherine Snow gene: SOS2 was added
gene: SOS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Pigmentary skin disorders v0.12 PPP1CB Catherine Snow gene: PPP1CB was added
gene: PPP1CB was added to Pigmentary skin disorders. Sources: Expert Review Green,Other
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Pigmentary skin disorders v0.12 MAP2K1 Catherine Snow gene: MAP2K1 was added
gene: MAP2K1 was added to Pigmentary skin disorders. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 21396583; 23321623
Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 3
Pigmentary skin disorders v0.12 LZTR1 Catherine Snow gene: LZTR1 was added
gene: LZTR1 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670
Cystic kidney disease v2.0 Eleanor Williams promoted panel to version 2.0
Cystic kidney disease v1.49 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Tubulointerstitial kidney disease v1.0 Eleanor Williams promoted panel to version 1.0
Tubulointerstitial kidney disease v0.16 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Adult onset dystonia, chorea or related movement disorder v0.103 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive
Structural basal ganglia disorders v1.15 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive
Adult onset neurodegenerative disorder v1.102 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Haematuria v2.0 Eleanor Williams promoted panel to version 2.0
Haematuria v1.31 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Structural basal ganglia disorders v1.14 KIAA1161 Louise Daugherty commented on gene: KIAA1161: added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Adult onset dystonia, chorea or related movement disorder v0.102 KIAA1161 Louise Daugherty commented on gene: KIAA1161: added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Adult onset dystonia, chorea or related movement disorder v0.102 KIAA1161 Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161.
Adult onset dystonia, chorea or related movement disorder v0.102 KIAA1161 Louise Daugherty gene: KIAA1161 was added
gene: KIAA1161 was added to Adult onset movement disorder. Sources: Expert Review
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222; 31009047
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive
Review for gene: KIAA1161 was set to GREEN
Added comment: Sources: Expert Review
Structural basal ganglia disorders v1.14 KIAA1161 Louise Daugherty gene: KIAA1161 was added
gene: KIAA1161 was added to Structural basal ganglia disorders. Sources: Expert Review
new-gene-name tags were added to gene: KIAA1161.
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222; 31009047
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive
Review for gene: KIAA1161 was set to GREEN
Added comment: Sources: Expert Review
Intracerebral calcification disorders v1.17 KIAA1161 Louise Daugherty Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222
Inherited polyposis and early onset colorectal cancer - germline testing v0.55 NTHL1 Ivone Leong Classified gene: NTHL1 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.55 NTHL1 Ivone Leong Added comment: Comment on list classification: This gene has been promoted from amber to green after further discussion with the GMS Inherited Cancer Specialist Test Group.
Inherited polyposis and early onset colorectal cancer - germline testing v0.55 NTHL1 Ivone Leong Gene: nthl1 has been classified as Green List (High Evidence).
Clefting v1.59 FBXO11 Eleanor Williams Classified gene: FBXO11 as Amber List (moderate evidence)
Clefting v1.59 FBXO11 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber as there are some cases reported, but the incidence of clefting is low and in one paper they felt the clefting phenotype was not related to the main phenotype of developmental delay.
Clefting v1.59 FBXO11 Eleanor Williams Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v1.14 KCNJ2 Ivone Leong Added comment: Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England).
Short QT syndrome v1.14 KCNJ2 Ivone Leong Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.13 SLC4A3 Ivone Leong Added comment: Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England).
Short QT syndrome v1.13 SLC4A3 Ivone Leong Mode of inheritance for gene: SLC4A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal tubulopathies v1.82 SCNN1A Eleanor Williams edited their review of gene: SCNN1A: Added comment: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

8 cases reported in OMIM (PMIDs 8589714 and 10586178).; Changed phenotypes: Pseudohypoaldosteronism, type I, MIM 264350, ? Liddle syndrom 3, MIM 618126, Bronchiectasis with or without elevated sweat chloride 2 MIM 613021
Renal tubulopathies v1.82 SCNN1B Eleanor Williams commented on gene: SCNN1B: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S).

PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). .

PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.
Renal tubulopathies v1.82 SCNN1G Eleanor Williams commented on gene: SCNN1G: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.
Renal tubulopathies v1.82 SLC22A12 Eleanor Williams commented on gene: SLC22A12: Associated with Hypouricemia, renal #220150 in OMIM.

PMID: 18492088 - Ichida et al 2008 - identified SLC22A12 mutations in 66 of 71 Japanese patients with hypouricemia. A total of 13 mutations, including 3 novel mutations, were identified. Acute renal failure and urolithiasis occurred in 21.1% and 8.5% of patients, respectively.
Renal tubulopathies v1.82 SLC2A9 Eleanor Williams commented on gene: SLC2A9: Associated with Hypouricemia, renal, 2 #612076 in OMIM.

More than 3 cases reported in OMIM (PMIDs: 19026395, 19926891, 21810765). Some patients heterozygous, some homozygous for variants in SLC2A9. In one family the heterozygous parents of the sibs were clinically asymptomatic.
Renal tubulopathies v1.82 SLC34A1 Eleanor Williams edited their review of gene: SLC34A1: Added comment: Associated with ?Fanconi renotubular syndrome 2 #613388, Hypercalcemia, infantile, 2 #616963 and
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 #612286 in OMIM.

Gene also known as NPT2.

PMID: 12324554 - Prie et al 2002 - report 2 out of 20 patients with urolithiasis or osteoporosis and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate resorption with heterozygous missense mutations in SLC34A1.

PMID: 20335586 - Magen et al 2010 - report an affected brother and sister from a consanguineous Arab family with Fanconi renotubular syndrome and a homozygous in-frame 21-bp duplication in SLC34A1.

PMID: 26047794 - Schlingmann et al 2016 - report biallelic SLC34A1 mutations in 16 patients from 15 families with infantile hypercalcemia-2; Changed phenotypes: Hypercalcemia, infantile, 2, MIM 616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM 612286, ?Fanconi renotubular syndrome 2 MIM 613388
Renal tubulopathies v1.82 SLC34A3 Eleanor Williams commented on gene: SLC34A3: Associated with Hypophosphatemic rickets with hypercalciuria #241530 in OMIM.

10 cases reported in OMIM (PMIDs: 16358214, 16358215, 16849419).
Renal tubulopathies v1.82 SLC5A2 Eleanor Williams commented on gene: SLC5A2: Associated with Renal glucosuria #233100 (both AD and AR) in OMIM.

PubMed: 12436245 - van den Heuvel et al. (2002) - 1 case. Turkish patient with congenital isolated renal glucosuria and a homozygous nonsense mutation in exon 11 leading to the formation of a truncated cotransporter. Both parents and a younger brother, all 3 without renal glucosuria, were heterozygous for the mutation.

PubMed: 21165652 - Yu et al. 2011 - screened the SGLT2 (now known as SLC5A2) gene in 4 patients in 4 unrelated Chinese families had persistent glucosuria with no polyuria/polydipsia, and no history of other renal diseases. They identified 5 novel mutations in the probands, including three missense mutations and two splice mutations. All four probands were heterozygous or compound heterozygous for SGLT2 mutations and none of the five identified mutations was detected in 110 chromosomes derived from 55 healthy, unrelated individuals, indicating that these mutations do not represent common polymorphisms. Compound heterozygous patients had more significant glucosuria. Functional studies also carried out.

PubMed: 26376857- Dhayat et al 2016 - report a Swiss family with SLC16A12-associated cataract and microcornea, in which 5 affected individuals also exhibited renal leak glucosuria, They identified an additional heterozygous missense mutation in the SLC5A2 gene that segregated fully with renal leak glucosuria in the family.
Renal tubulopathies v1.82 SLC9A3R1 Eleanor Williams commented on gene: SLC9A3R1: Associated with Nephrolithiasis/osteoporosis, hypophosphatemic, 2 #612287 in OMIM.

PubMed: 18784102 - Karim et al 2008 - sequenced the NHERF1 gene (now called SLC9A3R1) in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. They identified three distinct heterozygous missense mutations in the NHERF1 gene in four unrelated patients. All four patients with NHERF1 mutations had TmP/GFR values below the lower limit of the normal range, as well as hypophosphatemia. Patients 1, 3, and 4 also had recurrent nephrolithiasis. The four patients with mutations did not have proximal-tubule dysfunction other than the low TmP/GFR value. The results identify NHERF1 mutations as a cause of renal phosphate loss that may increase the risk of renal stone formation or bone demineralization: the mutations were identified only in patients with TmP/GFR values that were below normal and significantly lower than those in patients in whom mutations were not identified
Renal tubulopathies v1.82 TRPM6 Eleanor Williams commented on gene: TRPM6: Associated with Hypomagnesemia 1, intestinal #602014 in OMIM.

PMID: 12032568 - Schlingmann et al 2002 - 5 families (2 Turkish, 1 Swedish, 1 Israeli, and 1 Albanian) with hypomagnesemia with secondary hypocalcemia and mutations in the TRPM6 gene. In three families the parents were consanguineous and the affected individuals had homozygous variants. In 2 non-consanguineous families the affected children were compound heterozygous for TRPM6 mutations. The age at onset of symptoms varied from 3 weeks to 4 months. Seizures were the first symptoms detected. They also identified TRPM6 expression in kidney, and they report that the individuals studied showed inappropriately high fractional magnesium excretion rates, indicating an additional role of impaired renal magnesium reabsorption in HSH. This is confirmed by the characterisation of a considerable renal leak of magnesium in HSH patients in an accompanying report.

PubMed: 12032570 - Walder et al 2002 - identified homozygous mutations in each of six consanguineous families, and a heterozygous mutation in a nonconsanguineous family with Familial hypomagnesemia with secondary hypocalcemia. The search was narrowed to TPRM6 by homozygosity mapping and then identifying TRPM6 as a likely candidate gene. The gene was then sequenced in each of the families. 3 families were Bedouin kindreds from Israel with the same variant in a splice donor, the other families (each with different variants) were an Arab family from Greece, a family from Germany and 2 Arab families from Israel.

PMID: 23942199 - Lainez et al. 2014 - report from five new missense mutations found in five patients with HSH.
Adult onset neurodegenerative disorder v1.101 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NEFH Louise Daugherty commented on gene: NEFH: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MVK Louise Daugherty commented on gene: MVK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MAG Louise Daugherty commented on gene: MAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GNAL Louise Daugherty commented on gene: GNAL: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DMXL2 Louise Daugherty commented on gene: DMXL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DARS Louise Daugherty commented on gene: DARS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COG5 Louise Daugherty commented on gene: COG5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 YY1 Louise Daugherty commented on gene: YY1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WWOX Louise Daugherty commented on gene: WWOX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WFS1 Louise Daugherty commented on gene: WFS1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR81 Louise Daugherty commented on gene: WDR81: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR73 Louise Daugherty commented on gene: WDR73: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WDR45 Louise Daugherty commented on gene: WDR45: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VRK1 Louise Daugherty commented on gene: VRK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VPS35 Louise Daugherty commented on gene: VPS35: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VPS13D Louise Daugherty commented on gene: VPS13D: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VPS13A Louise Daugherty commented on gene: VPS13A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VLDLR Louise Daugherty commented on gene: VLDLR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VCP Louise Daugherty commented on gene: VCP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VAPB Louise Daugherty commented on gene: VAPB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 VAC14 Louise Daugherty commented on gene: VAC14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 UBQLN2 Louise Daugherty commented on gene: UBQLN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TYROBP Louise Daugherty commented on gene: TYROBP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TWNK Louise Daugherty commented on gene: TWNK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TTPA Louise Daugherty commented on gene: TTPA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TTC19 Louise Daugherty commented on gene: TTC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TTBK2 Louise Daugherty commented on gene: TTBK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TSEN54 Louise Daugherty commented on gene: TSEN54: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TSEN2 Louise Daugherty commented on gene: TSEN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TPP1 Louise Daugherty commented on gene: TPP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TOR1A Louise Daugherty commented on gene: TOR1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TMEM240 Louise Daugherty commented on gene: TMEM240: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 THAP1 Louise Daugherty commented on gene: THAP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TH Louise Daugherty commented on gene: TH: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TGM6 Louise Daugherty commented on gene: TGM6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TBK1 Louise Daugherty commented on gene: TBK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 TARDBP Louise Daugherty commented on gene: TARDBP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SYNJ1 Louise Daugherty commented on gene: SYNJ1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SYNE1 Louise Daugherty commented on gene: SYNE1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 STUB1 Louise Daugherty commented on gene: STUB1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SRD5A3 Louise Daugherty commented on gene: SRD5A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPTBN2 Louise Daugherty commented on gene: SPTBN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPR Louise Daugherty commented on gene: SPR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPAST Louise Daugherty commented on gene: SPAST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SPART Louise Daugherty commented on gene: SPART: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SOD1 Louise Daugherty commented on gene: SOD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SNX14 Louise Daugherty commented on gene: SNX14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SNCA Louise Daugherty commented on gene: SNCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC9A6 Louise Daugherty commented on gene: SLC9A6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC52A3 Louise Daugherty commented on gene: SLC52A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC52A2 Louise Daugherty commented on gene: SLC52A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC30A10 Louise Daugherty commented on gene: SLC30A10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SIL1 Louise Daugherty commented on gene: SIL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SGCE Louise Daugherty commented on gene: SGCE: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SETX Louise Daugherty commented on gene: SETX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SEPSECS Louise Daugherty commented on gene: SEPSECS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SCN8A Louise Daugherty commented on gene: SCN8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SCN1A Louise Daugherty commented on gene: SCN1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SAR1B Louise Daugherty commented on gene: SAR1B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 SACS Louise Daugherty commented on gene: SACS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RNF216 Louise Daugherty commented on gene: RNF216: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RNF170 Louise Daugherty commented on gene: RNF170: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RARS2 Louise Daugherty commented on gene: RARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 RAB39B Louise Daugherty commented on gene: RAB39B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PSEN2 Louise Daugherty commented on gene: PSEN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRRT2 Louise Daugherty commented on gene: PRRT2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRNP Louise Daugherty commented on gene: PRNP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRKRA Louise Daugherty commented on gene: PRKRA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRKN Louise Daugherty commented on gene: PRKN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PRKCG Louise Daugherty commented on gene: PRKCG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 POLG Louise Daugherty commented on gene: POLG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PNKP Louise Daugherty commented on gene: PNKP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PNKD Louise Daugherty commented on gene: PNKD: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PMPCA Louise Daugherty commented on gene: PMPCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PLA2G6 Louise Daugherty commented on gene: PLA2G6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PINK1 Louise Daugherty commented on gene: PINK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PFN1 Louise Daugherty commented on gene: PFN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PEX16 Louise Daugherty commented on gene: PEX16: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PDYN Louise Daugherty commented on gene: PDYN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PAX6 Louise Daugherty commented on gene: PAX6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PARK7 Louise Daugherty commented on gene: PARK7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 PANK2 Louise Daugherty commented on gene: PANK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 OPTN Louise Daugherty commented on gene: OPTN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 OPHN1 Louise Daugherty commented on gene: OPHN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NPC2 Louise Daugherty commented on gene: NPC2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NPC1 Louise Daugherty commented on gene: NPC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NOTCH3 Louise Daugherty commented on gene: NOTCH3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 NHLRC1 Louise Daugherty commented on gene: NHLRC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MTTP Louise Daugherty commented on gene: MTTP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MRE11 Louise Daugherty commented on gene: MRE11: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MMACHC Louise Daugherty commented on gene: MMACHC: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MECR Louise Daugherty commented on gene: MECR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 MAPT Louise Daugherty commented on gene: MAPT: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 LYST Louise Daugherty commented on gene: LYST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 LRRK2 Louise Daugherty commented on gene: LRRK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KMT2B Louise Daugherty commented on gene: KMT2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNJ10 Louise Daugherty commented on gene: KCNJ10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCND3 Louise Daugherty commented on gene: KCND3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNC3 Louise Daugherty commented on gene: KCNC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 KCNA1 Louise Daugherty commented on gene: KCNA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ITPR1 Louise Daugherty commented on gene: ITPR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ITM2B Louise Daugherty commented on gene: ITM2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HTRA2 Louise Daugherty commented on gene: HTRA2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HPCA Louise Daugherty commented on gene: HPCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HNRNPA1 Louise Daugherty commented on gene: HNRNPA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HEXB Louise Daugherty commented on gene: HEXB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 HEXA Louise Daugherty commented on gene: HEXA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GRN Louise Daugherty commented on gene: GRN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GRM1 Louise Daugherty commented on gene: GRM1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GRID2 Louise Daugherty commented on gene: GRID2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GPAA1 Louise Daugherty commented on gene: GPAA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GOSR2 Louise Daugherty commented on gene: GOSR2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GNAO1 Louise Daugherty commented on gene: GNAO1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GLRB Louise Daugherty commented on gene: GLRB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GLRA1 Louise Daugherty commented on gene: GLRA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GFAP Louise Daugherty commented on gene: GFAP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 GBA Louise Daugherty commented on gene: GBA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FXN Louise Daugherty commented on gene: FXN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FUS Louise Daugherty commented on gene: FUS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FTL Louise Daugherty commented on gene: FTL: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FOLR1 Louise Daugherty commented on gene: FOLR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FGF14 Louise Daugherty commented on gene: FGF14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FBXO7 Louise Daugherty commented on gene: FBXO7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 FA2H Louise Daugherty commented on gene: FA2H: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EXOSC3 Louise Daugherty commented on gene: EXOSC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EPM2A Louise Daugherty commented on gene: EPM2A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ELOVL4 Louise Daugherty commented on gene: ELOVL4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B5 Louise Daugherty commented on gene: EIF2B5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B4 Louise Daugherty commented on gene: EIF2B4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B3 Louise Daugherty commented on gene: EIF2B3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B2 Louise Daugherty commented on gene: EIF2B2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 EIF2B1 Louise Daugherty commented on gene: EIF2B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNAJC6 Louise Daugherty commented on gene: DNAJC6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNAJC5 Louise Daugherty commented on gene: DNAJC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DNAJC19 Louise Daugherty commented on gene: DNAJC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DCAF17 Louise Daugherty commented on gene: DCAF17: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 DARS2 Louise Daugherty commented on gene: DARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CWF19L1 Louise Daugherty commented on gene: CWF19L1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CSTB Louise Daugherty commented on gene: CSTB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CSF1R Louise Daugherty commented on gene: CSF1R: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CP Louise Daugherty commented on gene: CP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COX20 Louise Daugherty commented on gene: COX20: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COQ8A Louise Daugherty commented on gene: COQ8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 COASY Louise Daugherty commented on gene: COASY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CLN6 Louise Daugherty commented on gene: CLN6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CLCN2 Louise Daugherty commented on gene: CLCN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CHMP2B Louise Daugherty commented on gene: CHMP2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CHMP1A Louise Daugherty commented on gene: CHMP1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CASK Louise Daugherty commented on gene: CASK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CAMTA1 Louise Daugherty commented on gene: CAMTA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CACNB4 Louise Daugherty commented on gene: CACNB4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CACNA1G Louise Daugherty commented on gene: CACNA1G: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CACNA1A Louise Daugherty commented on gene: CACNA1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 CA8 Louise Daugherty commented on gene: CA8: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP7B Louise Daugherty commented on gene: ATP7B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP1A3 Louise Daugherty commented on gene: ATP1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATM Louise Daugherty commented on gene: ATM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ATCAY Louise Daugherty commented on gene: ATCAY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ARSA Louise Daugherty commented on gene: ARSA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AR Louise Daugherty commented on gene: AR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 APTX Louise Daugherty commented on gene: APTX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 APP Louise Daugherty commented on gene: APP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AP1S2 Louise Daugherty commented on gene: AP1S2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ANO3 Louise Daugherty commented on gene: ANO3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ANO10 Louise Daugherty commented on gene: ANO10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ANG Louise Daugherty commented on gene: ANG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ADCY5 Louise Daugherty commented on gene: ADCY5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ADAR Louise Daugherty commented on gene: ADAR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ABHD12 Louise Daugherty commented on gene: ABHD12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 ABCB7 Louise Daugherty commented on gene: ABCB7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.101 AAAS Louise Daugherty commented on gene: AAAS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 VAMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.100 TAF1 Louise Daugherty Source Wessex and West Midlands GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.100 REEP2 Louise Daugherty Source Wessex and West Midlands GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.100 NEFH Louise Daugherty Source Wessex and West Midlands GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.100 MVK Louise Daugherty Source Wessex and West Midlands GLH was added to MVK.
Adult onset neurodegenerative disorder v1.100 MAG Louise Daugherty Source Wessex and West Midlands GLH was added to MAG.
Adult onset neurodegenerative disorder v1.100 KDM5C Louise Daugherty Source Wessex and West Midlands GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.100 KCNK18 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.100 IBA57 Louise Daugherty Source Wessex and West Midlands GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.100 GNAL Louise Daugherty Source Wessex and West Midlands GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.100 GCH1 Louise Daugherty Source Wessex and West Midlands GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.100 DMXL2 Louise Daugherty Source Wessex and West Midlands GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.100 DARS Louise Daugherty Source Wessex and West Midlands GLH was added to DARS.
Adult onset neurodegenerative disorder v1.100 COG5 Louise Daugherty Source Wessex and West Midlands GLH was added to COG5.
Adult onset neurodegenerative disorder v1.100 CIZ1 Louise Daugherty Source Wessex and West Midlands GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.100 CHCHD2 Louise Daugherty Source Wessex and West Midlands GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.100 CDK16 Louise Daugherty Source Wessex and West Midlands GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.100 HACE1 Louise Daugherty Source Wessex and West Midlands GLH was added to HACE1.
Adult onset neurodegenerative disorder v1.100 ERLIN1 Louise Daugherty Source Wessex and West Midlands GLH was added to ERLIN1.
Adult onset neurodegenerative disorder v1.100 ARG1 Louise Daugherty Source Wessex and West Midlands GLH was added to ARG1.
Adult onset neurodegenerative disorder v1.100 ABCD1 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCD1.
Adult onset neurodegenerative disorder v1.100 ZFYVE26 Louise Daugherty Source Wessex and West Midlands GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.100 YY1 Louise Daugherty Source Wessex and West Midlands GLH was added to YY1.
Adult onset neurodegenerative disorder v1.100 WWOX Louise Daugherty Source Wessex and West Midlands GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.100 WFS1 Louise Daugherty Source Wessex and West Midlands GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.100 WDR81 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.100 WDR73 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.100 WDR45B Louise Daugherty Source Wessex and West Midlands GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.100 WDR45 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.100 WASHC5 Louise Daugherty Source Wessex and West Midlands GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.100 VRK1 Louise Daugherty Source Wessex and West Midlands GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.100 VPS35 Louise Daugherty Source Wessex and West Midlands GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.100 VPS13D Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.100 VPS13A Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.100 VLDLR Louise Daugherty Source Wessex and West Midlands GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.100 VCP Louise Daugherty Source Wessex and West Midlands GLH was added to VCP.
Adult onset neurodegenerative disorder v1.100 VAPB Louise Daugherty Source Wessex and West Midlands GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.100 VAC14 Louise Daugherty Source Wessex and West Midlands GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.100 UBQLN2 Louise Daugherty Source Wessex and West Midlands GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.100 TYROBP Louise Daugherty Source Wessex and West Midlands GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.100 TWNK Louise Daugherty Source Wessex and West Midlands GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.100 TUBB4A Louise Daugherty Source Wessex and West Midlands GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.100 TTPA Louise Daugherty Source Wessex and West Midlands GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.100 TTC19 Louise Daugherty Source Wessex and West Midlands GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.100 TTBK2 Louise Daugherty Source Wessex and West Midlands GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.100 TSEN54 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.100 TSEN2 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.100 TPP1 Louise Daugherty Source Wessex and West Midlands GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.100 TOR1A Louise Daugherty Source Wessex and West Midlands GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.100 TMEM240 Louise Daugherty Source Wessex and West Midlands GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.100 THAP1 Louise Daugherty Source Wessex and West Midlands GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.100 TH Louise Daugherty Source Wessex and West Midlands GLH was added to TH.
Adult onset neurodegenerative disorder v1.100 TGM6 Louise Daugherty Source Wessex and West Midlands GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.100 TBK1 Louise Daugherty Source Wessex and West Midlands GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.100 TARDBP Louise Daugherty Source Wessex and West Midlands GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.100 SYNJ1 Louise Daugherty Source Wessex and West Midlands GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.100 SYNE1 Louise Daugherty Source Wessex and West Midlands GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.100 STUB1 Louise Daugherty Source Wessex and West Midlands GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.100 SRD5A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.100 SPTBN2 Louise Daugherty Source Wessex and West Midlands GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.100 SPR Louise Daugherty Source Wessex and West Midlands GLH was added to SPR.
Adult onset neurodegenerative disorder v1.100 SPG7 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.100 SPG21 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.100 SPG11 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.100 SPAST Louise Daugherty Source Wessex and West Midlands GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.100 SPART Louise Daugherty Source Wessex and West Midlands GLH was added to SPART.
Adult onset neurodegenerative disorder v1.100 SOD1 Louise Daugherty Source Wessex and West Midlands GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.100 SNX14 Louise Daugherty Source Wessex and West Midlands GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.100 SNCA Louise Daugherty Source Wessex and West Midlands GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.100 SLC9A6 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.100 SLC6A5 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.100 SLC6A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.100 SLC52A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.100 SLC52A2 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.100 SLC39A14 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.100 SLC30A10 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.100 SLC2A1 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.100 SLC25A46 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.100 SLC1A4 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.100 SLC1A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.100 SLC16A2 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.100 SIL1 Louise Daugherty Source Wessex and West Midlands GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.100 SIGMAR1 Louise Daugherty Source Wessex and West Midlands GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.100 SGCE Louise Daugherty Source Wessex and West Midlands GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.100 SETX Louise Daugherty Source Wessex and West Midlands GLH was added to SETX.
Adult onset neurodegenerative disorder v1.100 SERAC1 Louise Daugherty Source Wessex and West Midlands GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.100 SEPSECS Louise Daugherty Source Wessex and West Midlands GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.100 SCN8A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.100 SCN1A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.100 SAR1B Louise Daugherty Source Wessex and West Midlands GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.100 SACS Louise Daugherty Source Wessex and West Midlands GLH was added to SACS.
Adult onset neurodegenerative disorder v1.100 RTN2 Louise Daugherty Source Wessex and West Midlands GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.100 RNF216 Louise Daugherty Source Wessex and West Midlands GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.100 RNF170 Louise Daugherty Source Wessex and West Midlands GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.100 REEP1 Louise Daugherty Source Wessex and West Midlands GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.100 RARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.100 RAB39B Louise Daugherty Source Wessex and West Midlands GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.100 PSEN2 Louise Daugherty Source Wessex and West Midlands GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.100 PSEN1 Louise Daugherty Source Wessex and West Midlands GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.100 PRRT2 Louise Daugherty Source Wessex and West Midlands GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.100 PRNP Louise Daugherty Source Wessex and West Midlands GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.100 PRKRA Louise Daugherty Source Wessex and West Midlands GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.100 PRKN Louise Daugherty Source Wessex and West Midlands GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.100 PRKCG Louise Daugherty Source Wessex and West Midlands GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.100 POLR3A Louise Daugherty Source Wessex and West Midlands GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.100 POLG Louise Daugherty Source Wessex and West Midlands GLH was added to POLG.
Adult onset neurodegenerative disorder v1.100 PNPLA6 Louise Daugherty Source Wessex and West Midlands GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.100 PNKP Louise Daugherty Source Wessex and West Midlands GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.100 PNKD Louise Daugherty Source Wessex and West Midlands GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.100 PMPCA Louise Daugherty Source Wessex and West Midlands GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.100 PLP1 Louise Daugherty Source Wessex and West Midlands GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.100 PLA2G6 Louise Daugherty Source Wessex and West Midlands GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.100 PINK1 Louise Daugherty Source Wessex and West Midlands GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.100 PFN1 Louise Daugherty Source Wessex and West Midlands GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.100 PEX16 Louise Daugherty Source Wessex and West Midlands GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.100 PDYN Louise Daugherty Source Wessex and West Midlands GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.100 PAX6 Louise Daugherty Source Wessex and West Midlands GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.100 PARK7 Louise Daugherty Source Wessex and West Midlands GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.100 PANK2 Louise Daugherty Source Wessex and West Midlands GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.100 OPTN Louise Daugherty Source Wessex and West Midlands GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.100 OPHN1 Louise Daugherty Source Wessex and West Midlands GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.100 OPA3 Louise Daugherty Source Wessex and West Midlands GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.100 NPC2 Louise Daugherty Source Wessex and West Midlands GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.100 NPC1 Louise Daugherty Source Wessex and West Midlands GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.100 NOTCH3 Louise Daugherty Source Wessex and West Midlands GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.100 NKX6-2 Louise Daugherty Source Wessex and West Midlands GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.100 NIPA1 Louise Daugherty Source Wessex and West Midlands GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.100 NHLRC1 Louise Daugherty Source Wessex and West Midlands GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.100 MTTP Louise Daugherty Source Wessex and West Midlands GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.100 MT-ATP6 Louise Daugherty Source Wessex and West Midlands GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.100 MRE11 Louise Daugherty Source Wessex and West Midlands GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.100 MMACHC Louise Daugherty Source Wessex and West Midlands GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.100 MECR Louise Daugherty Source Wessex and West Midlands GLH was added to MECR.
Adult onset neurodegenerative disorder v1.100 MARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.100 MAPT Louise Daugherty Source Wessex and West Midlands GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.100 LYST Louise Daugherty Source Wessex and West Midlands GLH was added to LYST.
Adult onset neurodegenerative disorder v1.100 LRRK2 Louise Daugherty Source Wessex and West Midlands GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.100 L1CAM Louise Daugherty Source Wessex and West Midlands GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.100 KMT2B Louise Daugherty Source Wessex and West Midlands GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.100 KIF5A Louise Daugherty Source Wessex and West Midlands GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.100 KIF1C Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.100 KIF1A Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.100 KIDINS220 Louise Daugherty Source Wessex and West Midlands GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.100 KCNQ3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.100 KCNQ2 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.100 KCNJ10 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.100 KCND3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.100 KCNC3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.100 KCNA1 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.100 ITPR1 Louise Daugherty Source Wessex and West Midlands GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.100 ITM2B Louise Daugherty Source Wessex and West Midlands GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.100 HTRA2 Louise Daugherty Source Wessex and West Midlands GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.100 HSPD1 Louise Daugherty Source Wessex and West Midlands GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.100 HPCA Louise Daugherty Source Wessex and West Midlands GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.100 HNRNPA1 Louise Daugherty Source Wessex and West Midlands GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.100 HEXB Louise Daugherty Source Wessex and West Midlands GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.100 HEXA Louise Daugherty Source Wessex and West Midlands GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.100 GRN Louise Daugherty Source Wessex and West Midlands GLH was added to GRN.
Adult onset neurodegenerative disorder v1.100 GRM1 Louise Daugherty Source Wessex and West Midlands GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.100 GRID2 Louise Daugherty Source Wessex and West Midlands GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.100 GPAA1 Louise Daugherty Source Wessex and West Midlands GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.100 GOSR2 Louise Daugherty Source Wessex and West Midlands GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.100 GNAO1 Louise Daugherty Source Wessex and West Midlands GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.100 GLRB Louise Daugherty Source Wessex and West Midlands GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.100 GLRA1 Louise Daugherty Source Wessex and West Midlands GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.100 GJC2 Louise Daugherty Source Wessex and West Midlands GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.100 GFAP Louise Daugherty Source Wessex and West Midlands GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.100 GBA2 Louise Daugherty Source Wessex and West Midlands GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.100 GBA Louise Daugherty Source Wessex and West Midlands GLH was added to GBA.
Adult onset neurodegenerative disorder v1.100 FXN Louise Daugherty Source Wessex and West Midlands GLH was added to FXN.
Adult onset neurodegenerative disorder v1.100 FUS Louise Daugherty Source Wessex and West Midlands GLH was added to FUS.
Adult onset neurodegenerative disorder v1.100 FTL Louise Daugherty Source Wessex and West Midlands GLH was added to FTL.
Adult onset neurodegenerative disorder v1.100 FOLR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.100 FMR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FMR1.
Adult onset neurodegenerative disorder v1.100 FLVCR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.100 FIG4 Louise Daugherty Source Wessex and West Midlands GLH was added to FIG4.
Adult onset neurodegenerative disorder v1.100 FGF14 Louise Daugherty Source Wessex and West Midlands GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.100 FBXO7 Louise Daugherty Source Wessex and West Midlands GLH was added to FBXO7.
Adult onset neurodegenerative disorder v1.100 FARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.100 FA2H Louise Daugherty Source Wessex and West Midlands GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.100 EXOSC3 Louise Daugherty Source Wessex and West Midlands GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.100 ERLIN2 Louise Daugherty Source Wessex and West Midlands GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.100 EPM2A Louise Daugherty Source Wessex and West Midlands GLH was added to EPM2A.
Adult onset neurodegenerative disorder v1.100 ELOVL4 Louise Daugherty Source Wessex and West Midlands GLH was added to ELOVL4.
Adult onset neurodegenerative disorder v1.100 EIF2B5 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B5.
Adult onset neurodegenerative disorder v1.100 EIF2B4 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B4.
Adult onset neurodegenerative disorder v1.100 EIF2B3 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B3.
Adult onset neurodegenerative disorder v1.100 EIF2B2 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B2.
Adult onset neurodegenerative disorder v1.100 EIF2B1 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B1.
Adult onset neurodegenerative disorder v1.100 DNMT1 Louise Daugherty Source Wessex and West Midlands GLH was added to DNMT1.
Adult onset neurodegenerative disorder v1.100 DNAJC6 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC6.
Adult onset neurodegenerative disorder v1.100 DNAJC5 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC5.
Adult onset neurodegenerative disorder v1.100 DNAJC19 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.100 DDHD2 Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.100 DDHD1 Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.100 DCTN1 Louise Daugherty Source Wessex and West Midlands GLH was added to DCTN1.
Adult onset neurodegenerative disorder v1.100 DCAF17 Louise Daugherty Source Wessex and West Midlands GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.100 DARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to DARS2.
Adult onset neurodegenerative disorder v1.100 CYP7B1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP7B1.
Adult onset neurodegenerative disorder v1.100 CYP2U1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP2U1.
Adult onset neurodegenerative disorder v1.100 CYP27A1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP27A1.
Adult onset neurodegenerative disorder v1.100 CWF19L1 Louise Daugherty Source Wessex and West Midlands GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.100 CSTB Louise Daugherty Source Wessex and West Midlands GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.100 CSF1R Louise Daugherty Source Wessex and West Midlands GLH was added to CSF1R.
Adult onset neurodegenerative disorder v1.100 CP Louise Daugherty Source Wessex and West Midlands GLH was added to CP.
Adult onset neurodegenerative disorder v1.100 COX20 Louise Daugherty Source Wessex and West Midlands GLH was added to COX20.
Adult onset neurodegenerative disorder v1.100 COQ8A Louise Daugherty Source Wessex and West Midlands GLH was added to COQ8A.
Adult onset neurodegenerative disorder v1.100 COASY Louise Daugherty Source Wessex and West Midlands GLH was added to COASY.
Adult onset neurodegenerative disorder v1.100 CLN6 Louise Daugherty Source Wessex and West Midlands GLH was added to CLN6.
Adult onset neurodegenerative disorder v1.100 CLCN2 Louise Daugherty Source Wessex and West Midlands GLH was added to CLCN2.
Adult onset neurodegenerative disorder v1.100 CHMP2B Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP2B.
Adult onset neurodegenerative disorder v1.100 CHMP1A Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.100 CASK Louise Daugherty Source Wessex and West Midlands GLH was added to CASK.
Adult onset neurodegenerative disorder v1.100 CAPN1 Louise Daugherty Source Wessex and West Midlands GLH was added to CAPN1.
Adult onset neurodegenerative disorder v1.100 CAMTA1 Louise Daugherty Source Wessex and West Midlands GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.100 CACNB4 Louise Daugherty Source Wessex and West Midlands GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.100 CACNA1G Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1G.
Adult onset neurodegenerative disorder v1.100 CACNA1A Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.100 CA8 Louise Daugherty Source Wessex and West Midlands GLH was added to CA8.
Adult onset neurodegenerative disorder v1.100 C19orf12 Louise Daugherty Source Wessex and West Midlands GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.100 C12orf65 Louise Daugherty Source Wessex and West Midlands GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.100 BSCL2 Louise Daugherty Source Wessex and West Midlands GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.100 B4GALNT1 Louise Daugherty Source Wessex and West Midlands GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.100 ATP7B Louise Daugherty Source Wessex and West Midlands GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.100 ATP1A3 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A3.
Adult onset neurodegenerative disorder v1.100 ATP1A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.100 ATP13A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP13A2.
Adult onset neurodegenerative disorder v1.100 ATM Louise Daugherty Source Wessex and West Midlands GLH was added to ATM.
Adult onset neurodegenerative disorder v1.100 ATL1 Louise Daugherty Source Wessex and West Midlands GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.100 ATCAY Louise Daugherty Source Wessex and West Midlands GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.100 ARSA Louise Daugherty Source Wessex and West Midlands GLH was added to ARSA.
Adult onset neurodegenerative disorder v1.100 AR Louise Daugherty Source Wessex and West Midlands GLH was added to AR.
Adult onset neurodegenerative disorder v1.100 APTX Louise Daugherty Source Wessex and West Midlands GLH was added to APTX.
Adult onset neurodegenerative disorder v1.100 APP Louise Daugherty Source Wessex and West Midlands GLH was added to APP.
Adult onset neurodegenerative disorder v1.100 AP4S1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.100 AP4M1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.100 AP4E1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.100 AP4B1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.100 AP1S2 Louise Daugherty Source Wessex and West Midlands GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.100 ANO3 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.100 ANO10 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.100 ANG Louise Daugherty Source Wessex and West Midlands GLH was added to ANG.
Adult onset neurodegenerative disorder v1.100 AMPD2 Louise Daugherty Source Wessex and West Midlands GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.100 ALS2 Louise Daugherty Source Wessex and West Midlands GLH was added to ALS2.
Adult onset neurodegenerative disorder v1.100 ALDH18A1 Louise Daugherty Source Wessex and West Midlands GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.100 AIMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.100 AFG3L2 Louise Daugherty Source Wessex and West Midlands GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.100 ADCY5 Louise Daugherty Source Wessex and West Midlands GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.100 ADAR Louise Daugherty Source Wessex and West Midlands GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.100 ABHD12 Louise Daugherty Source Wessex and West Midlands GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.100 ABCB7 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.100 AAAS Louise Daugherty Source Wessex and West Midlands GLH was added to AAAS.
Adult onset neurodegenerative disorder v1.99 VAMP1 Tracy Lester reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TAF1 Tracy Lester reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 REEP2 Tracy Lester reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NEFH Tracy Lester reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 MVK Tracy Lester reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MAG Tracy Lester reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KDM5C Tracy Lester reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.99 IBA57 Tracy Lester reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GNAL Tracy Lester reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DMXL2 Tracy Lester reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, ORPHA90636, OMIM:612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 DARS Tracy Lester reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COG5 Tracy Lester reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CIZ1 Tracy Lester reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22447717; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.99 CHCHD2 Tracy Lester reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 CDK16 Tracy Lester reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 HACE1 Tracy Lester reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ERLIN1 Tracy Lester reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ARG1 Tracy Lester reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABCD1 Tracy Lester reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 ZFYVE26 Tracy Lester reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 YY1 Tracy Lester reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 WWOX Tracy Lester reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WFS1 Tracy Lester reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR81 Tracy Lester reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR73 Tracy Lester reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 WDR45 Tracy Lester reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 WASHC5 Tracy Lester reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VRK1 Tracy Lester reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 1A (#607596); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VPS35 Tracy Lester reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VPS13D Tracy Lester reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VPS13A Tracy Lester reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VLDLR Tracy Lester reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 VCP Tracy Lester reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VAPB Tracy Lester reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 VAC14 Tracy Lester reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 UBQLN2 Tracy Lester reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 TYROBP Tracy Lester reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TWNK Tracy Lester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar Ataxia, Recessive, Ataxia Neuropathy Spectrum Disorders, Dominant, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286, Perrault syndrome 5, 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6 612438, ?Dystonia 4, torsion, autosomal dominant, 128101, hypomyelinating leukodystrophy 6, Implicated autosomal dominant variants in two families with ataxia, Dystonia, Torsion dystonia 4 (128101) - some individuals with ataxia, ataxia, hereditary whispering dysphonia, Complex parkinsonism, hypomyelinating leukodystrophy 6 (612438) - ataxia reported., Dystonia 4, torsion, autosomal dominant 128101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TTPA Tracy Lester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TTC19 Tracy Lester reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TTBK2 Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TSEN2 Tracy Lester reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TPP1 Tracy Lester reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TOR1A Tracy Lester reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TMEM240 Tracy Lester reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 THAP1 Tracy Lester reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TH Tracy Lester reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 TGM6 Tracy Lester reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TBK1 Tracy Lester reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 TARDBP Tracy Lester reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SYNJ1 Tracy Lester reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SYNE1 Tracy Lester reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 STUB1 Tracy Lester reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SRD5A3 Tracy Lester reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPTBN2 Tracy Lester reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SPR Tracy Lester reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG21 Tracy Lester reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPG11 Tracy Lester reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SPAST Tracy Lester reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SPART Tracy Lester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SOD1 Tracy Lester reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SNX14 Tracy Lester reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SNCA Tracy Lester reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC9A6 Tracy Lester reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC6A3 Tracy Lester reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC52A3 Tracy Lester reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC52A2 Tracy Lester reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC39A14 Tracy Lester reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypermanganesemia with dystonia 2 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC30A10 Tracy Lester reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease, Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC25A46 Tracy Lester reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SLC16A2 Tracy Lester reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 SIL1 Tracy Lester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SIGMAR1 Tracy Lester reviewed gene: SIGMAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SGCE Tracy Lester reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Adult onset neurodegenerative disorder v1.99 SETX Tracy Lester reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SERAC1 Tracy Lester reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDEL syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SEPSECS Tracy Lester reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 SAR1B Tracy Lester reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 SACS Tracy Lester reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RTN2 Tracy Lester reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 RNF216 Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RNF170 Tracy Lester reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 REEP1 Tracy Lester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 RARS2 Tracy Lester reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 RAB39B Tracy Lester reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 PSEN2 Tracy Lester reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PSEN1 Tracy Lester reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acne inversa, familial, 3, 613737, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Dystonia, Dementia, frontotemporal, 600274, Pick disease, 172700, Clinical syndrome Alzheimer disease, Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Alzheimer disease, type 3, with spastic paraparesis and apraxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia and occasionally hemiplegic migraine and epilepsy, episodic kinesigenic dyskinesia, EPISODIC KINESIGENIC DYSKINESIA 1, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, Episodic kinesigenic dyskinesia 1, 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PRNP Tracy Lester reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PRKRA Tracy Lester reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early-Onset Generalized Dystonia-Parkinsonism, Dystonia 16, Dystonia, Dystonia 16, 612067, early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PRKN Tracy Lester reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PRKCG Tracy Lester reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 POLR3A Tracy Lester reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PNPLA6 Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Spastic paraplegia 39, autosomal recessive, Oliver-McFarlane syndrome (#603197), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PNKP Tracy Lester reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PNKD Tracy Lester reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 PMPCA Tracy Lester reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PLP1 Tracy Lester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 PLA2G6 Tracy Lester reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1, 256600, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B, 610217, Infantile neuroaxonal dystrophy 1 (#256600), Neurodegeneration with brain iron accumulation 2B (#610217), Parkinson disease 14 (#612953), Parkinson disease 14, 612953, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PINK1 Tracy Lester reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PFN1 Tracy Lester reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PEX16 Tracy Lester reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PDYN Tracy Lester reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 PAX6 Tracy Lester reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PARK7 Tracy Lester reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 PANK2 Tracy Lester reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 OPTN Tracy Lester reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 OPHN1 Tracy Lester reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 OPA3 Tracy Lester reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NPC2 Tracy Lester reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NPC1 Tracy Lester reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NOTCH3 Tracy Lester reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 NKX6-2 Tracy Lester reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 NIPA1 Tracy Lester reviewed gene: NIPA1: 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: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 NHLRC1 Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MTTP Tracy Lester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Adult onset neurodegenerative disorder v1.99 MRE11 Tracy Lester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MECR Tracy Lester reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MARS2 Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 MAPT Tracy Lester reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, frontotemporal, with or without parkinsonism, 600274, Tauopathy and r, Supranuclear palsy, progressive, 601104, clinical presentation suggestive of cortico-basal/PSP syndrome, PARKINSON-DEMENTIA SYNDROME, {Parkinson disease, susceptibility to}, 168600, Pick disease, 172700, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Supranuclear palsy, progressive atypical, 260540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 LYST Tracy Lester reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 LRRK2 Tracy Lester reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease 8, Autosomal Dominant, Autosomal dominant Parkinson's disease, Parkinson Disease, Dominant, PARKINSON DISEASE 8, AUTOSOMAL DOMINANT, LRRK2 G2019S mutation, Parkinson disease 8, 607060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 L1CAM Tracy Lester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 KMT2B Tracy Lester reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KIF5A Tracy Lester reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KIF1C Tracy Lester reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26410750; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KIDINS220 Tracy Lester reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 KCNJ10 Tracy Lester reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 KCND3 Tracy Lester reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 KCNC3 Tracy Lester reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ITPR1 Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ITM2B Tracy Lester reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 210391242, 10781099; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 HTRA2 Tracy Lester reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30564185, 25326637, 17420924, 18378094 ; Phenotypes: Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 HPCA Tracy Lester reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: 30145809, 25799108; Phenotypes: Dystonia 2, torsion, autosomal recessive, 224500, generalized dystonia with additional neurological features, adolescence-onset segmental dystonia, childhood-onset generalized dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 HNRNPA1 Tracy Lester reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23455423, 29033165, 27694260 ; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3 615424, ALS type 20 615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 HEXA Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GRN Tracy Lester reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: clinical presentation suggestive of cortico-basal/PSP syndrome, Complex parkinsonism, Frontotemporal Dementia, frontotemporal lobar degeneration with TDP43 inclusions, Clinical syndrome FTLD (Frontotemporal lobar degeneration); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GRM1 Tracy Lester reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GRID2 Tracy Lester reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GPAA1 Tracy Lester reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GNAO1 Tracy Lester reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GLRB Tracy Lester reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GJC2 Tracy Lester reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25059390; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GFAP Tracy Lester reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 GBA2 Tracy Lester reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 GBA Tracy Lester reviewed gene: GBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FXN Tracy Lester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FUS Tracy Lester reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FTL Tracy Lester reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FMR1 Tracy Lester reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 FLVCR1 Tracy Lester reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FIG4 Tracy Lester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FGF14 Tracy Lester reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 FBXO7 Tracy Lester reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FARS2 Tracy Lester reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 FA2H Tracy Lester reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ERLIN2 Tracy Lester reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23085305, 27824013; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EPM2A Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ELOVL4 Tracy Lester reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 EIF2B5 Tracy Lester reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B4 Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 EIF2B1 Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 DNAJC6 Tracy Lester reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DNAJC5 Tracy Lester reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 DNAJC19 Tracy Lester reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DDHD2 Tracy Lester reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132., Spastic paraplegia 54, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DDHD1 Tracy Lester reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DCTN1 Tracy Lester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625595, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 DCAF17 Tracy Lester reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 DARS2 Tracy Lester reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP7B1 Tracy Lester reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CYP27A1 Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CWF19L1 Tracy Lester reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CSTB Tracy Lester reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia (26843564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CSF1R Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CP Tracy Lester reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COX20 Tracy Lester reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30656193; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COQ8A Tracy Lester reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 COASY Tracy Lester reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CLN6 Tracy Lester reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CHMP2B Tracy Lester reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: familial frontotemporal lobar degeneration (ALS17), Dystonia, Frontotemporal Dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Dementia, familial, nonspecific, 600795, Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696, Amyotrophic lateral sclerosis 17, 614696; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CHMP1A Tracy Lester reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CASK Tracy Lester reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 CAPN1 Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 CAMTA1 Tracy Lester reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CACNA1G Tracy Lester reviewed gene: CACNA1G: 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: 28726809; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 CA8 Tracy Lester reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 C19orf12 Tracy Lester reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 C12orf65 Tracy Lester reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 BSCL2 Tracy Lester reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 B4GALNT1 Tracy Lester reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820, CAPOS syndrome, DYSTONIA 12, 128235, Dystonia-12, alternating hemiplegia of childhood, Dystonia-12, 128235, Rapid-Onset Dystonia-Parkinsonism, rapid-onset dystonia-parkinsonism, Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338), Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: 30690204; Phenotypes: Dystonia, alternating hemiplegia of childhood 104290, familial basilar migraine 602481, migraine, familial hemiplegic migraine type 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 ATP13A2 Tracy Lester reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 9, 606693, Dystonia, Kufor-Rakeb syndrome, Kufor-Rakeb Syndrome, Parkinson disease, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATM Tracy Lester reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Ataxia-Telangiectasia, Ataxia telangiectasia, Ataxia-telangiectasia,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ATL1 Tracy Lester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ATCAY Tracy Lester reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, cerebellar, Cayman type, Cerebellar Ataxia, Cayman type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ARSA Tracy Lester reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy (#250100), Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AR Tracy Lester reviewed gene: AR: 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: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.99 APTX Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 APP Tracy Lester reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Clinical syndrome Alzheimer disease, Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 AP4S1 Tracy Lester reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4M1 Tracy Lester reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4E1 Tracy Lester reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP4B1 Tracy Lester reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 ANO3 Tracy Lester reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: 30502610, 28283962; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 ANO10 Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ANG Tracy Lester reviewed gene: ANG: 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: ; Phenotypes: Amyotrophic lateral sclerosis 9, 611895, Amyotrophic Lateral Sclerosis, Dominant, familial amyotrophic lateral sclerosis (ALS9); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.99 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)., Hereditary Spastic Paraplegia?, Pontocerebellar hypoplasia 9 (#615809), Pontocerebellar hypolplasia (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ALS2 Tracy Lester reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ALDH18A1 Tracy Lester reviewed gene: ALDH18A1: 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: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AIMP1 Tracy Lester reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia, Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.99 ADAR Tracy Lester reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABHD12 Tracy Lester reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.99 ABCB7 Tracy Lester reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia,, Sideroblastic Anemia and Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.99 AAAS Tracy Lester reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 NLRP1 Catherine Snow gene: NLRP1 was added
gene: NLRP1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 NLRP3 Catherine Snow gene: NLRP3 was added
gene: NLRP3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 LYST Catherine Snow gene: LYST was added
gene: LYST was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 GGCX Catherine Snow gene: GGCX was added
gene: GGCX was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ABCC6 Catherine Snow gene: ABCC6 was added
gene: ABCC6 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 GALNT3 Catherine Snow gene: GALNT3 was added
gene: GALNT3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 FOXC2 Catherine Snow gene: FOXC2 was added
gene: FOXC2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FMO3 Catherine Snow gene: FMO3 was added
gene: FMO3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 FLT4 Catherine Snow gene: FLT4 was added
gene: FLT4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FGF23 Catherine Snow gene: FGF23 was added
gene: FGF23 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FBLN5 Catherine Snow gene: FBLN5 was added
gene: FBLN5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 EFEMP2 Catherine Snow gene: EFEMP2 was added
gene: EFEMP2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ELN Catherine Snow gene: ELN was added
gene: ELN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 EGFR Catherine Snow gene: EGFR was added
gene: EGFR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL5A2 Catherine Snow gene: COL5A2 was added
gene: COL5A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL5A1 Catherine Snow gene: COL5A1 was added
gene: COL5A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL4A5 Catherine Snow gene: COL4A5 was added
gene: COL4A5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare genetic inflammatory skin disorders v0.13 COL4A4 Catherine Snow gene: COL4A4 was added
gene: COL4A4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL4A3 Catherine Snow gene: COL4A3 was added
gene: COL4A3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL3A1 Catherine Snow gene: COL3A1 was added
gene: COL3A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL1A2 Catherine Snow gene: COL1A2 was added
gene: COL1A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL1A1 Catherine Snow gene: COL1A1 was added
gene: COL1A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 ATP7B Catherine Snow gene: ATP7B was added
gene: ATP7B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ATP7A Catherine Snow gene: ATP7A was added
gene: ATP7A was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare genetic inflammatory skin disorders v0.13 ATP6V0A2 Catherine Snow gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ANTXR2 Catherine Snow gene: ANTXR2 was added
gene: ANTXR2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 AIRE Catherine Snow gene: AIRE was added
gene: AIRE was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 AGPAT2 Catherine Snow gene: AGPAT2 was added
gene: AGPAT2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ADAMTS2 Catherine Snow gene: ADAMTS2 was added
gene: ADAMTS2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Mosaic skin disorders - deep sequencing v0.12 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 PPOX Catherine Snow gene: PPOX was added
gene: PPOX was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.12 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 CPO Catherine Snow gene: CPO was added
gene: CPO was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CPO was set to
Vascular skin disorders v0.12 AP3B1 Catherine Snow gene: AP3B1 was added
gene: AP3B1 was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.12 ADAMTS13 Catherine Snow gene: ADAMTS13 was added
gene: ADAMTS13 was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.11 MLPH Catherine Snow gene: MLPH was added
gene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.11 IL31RA Catherine Snow gene: IL31RA was added
gene: IL31RA was added to Pigmentary skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermodysplasia verruciformis v0.8 IL7 Catherine Snow gene: IL7 was added
gene: IL7 was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermodysplasia verruciformis v0.8 CORO1A Catherine Snow gene: CORO1A was added
gene: CORO1A was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal
Epidermodysplasia verruciformis v0.8 MST1 Catherine Snow gene: MST1 was added
gene: MST1 was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: MST1 was set to
Epidermodysplasia verruciformis v0.8 RHOH Catherine Snow gene: RHOH was added
gene: RHOH was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: RHOH was set to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v0.8 STK11 Catherine Snow gene: STK11 was added
gene: STK11 was added to Palmoplantar keratodermas. Sources: Expert Review Amber
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 PIGL Catherine Snow gene: PIGL was added
gene: PIGL was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 CLDN1 Catherine Snow gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG Catherine Snow gene: FLG was added
gene: FLG was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 LOR Catherine Snow gene: LOR was added
gene: LOR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 MSMO1 Catherine Snow gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 KRT2 Catherine Snow gene: KRT2 was added
gene: KRT2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 CTSB Catherine Snow gene: CTSB was added
gene: CTSB was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: CTSB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 EGFR Catherine Snow gene: EGFR was added
gene: EGFR was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2C1 Catherine Snow gene: ATP2C1 was added
gene: ATP2C1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 DSG1 Catherine Snow gene: DSG1 was added
gene: DSG1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 SLC39A7 Catherine Snow gene: SLC39A7 was added
gene: SLC39A7 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SLC39A7 was set to
Epidermolysis bullosa and congenital skin fragility v0.14 SLC39A4 Catherine Snow gene: SLC39A4 was added
gene: SLC39A4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 IKBKG Catherine Snow gene: IKBKG was added
gene: IKBKG was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Epidermolysis bullosa and congenital skin fragility v0.14 KRT10 Catherine Snow Source Expert Review Amber was added to KRT10.
Mode of inheritance for gene KRT10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 KRT1 Catherine Snow Source Expert Review Amber was added to KRT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 PLOD3 Catherine Snow gene: PLOD3 was added
gene: PLOD3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 CD151 Catherine Snow Source Expert Review Amber was added to CD151.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 DSG3 Catherine Snow Source Expert Review Amber was added to DSG3.
Mode of inheritance for gene DSG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 DSC3 Catherine Snow gene: DSC3 was added
gene: DSC3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 KRT83 Catherine Snow gene: KRT83 was added
gene: KRT83 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 KRT81 Catherine Snow gene: KRT81 was added
gene: KRT81 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 KRT71 Catherine Snow Source Expert Review Amber was added to KRT71.
Mode of inheritance for gene KRT71 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ectodermal dysplasia v0.15 RSPO4 Catherine Snow gene: RSPO4 was added
gene: RSPO4 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 KRT25 Catherine Snow gene: KRT25 was added
gene: KRT25 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: KRT25 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 GRHL2 Catherine Snow gene: GRHL2 was added
gene: GRHL2 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 GJB2 Catherine Snow Source Expert Review Amber was added to GJB2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ectodermal dysplasia v0.15 DHX30 Catherine Snow gene: DHX30 was added
gene: DHX30 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 DHX40 Catherine Snow gene: DHX40 was added
gene: DHX40 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: DHX40 was set to
Ectodermal dysplasia v0.15 CREBBP Catherine Snow gene: CREBBP was added
gene: CREBBP was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 WNT7A Catherine Snow gene: WNT7A was added
gene: WNT7A was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 AR Catherine Snow gene: AR was added
gene: AR was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal central nervous system disorders v0.28 ISCA-37468-Loss Rebecca Foulger changed review comment from: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.; to: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Paroxysmal central nervous system disorders v0.28 ISCA-37468-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Source NHS GMS was added to Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paroxysmal central nervous system disorders v0.27 ISCA-37468-Loss Rebecca Foulger reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.27 TBP Rebecca Foulger Source NHS GMS was added to TBP.
Paroxysmal central nervous system disorders v0.27 CSTB Rebecca Foulger Source NHS GMS was added to CSTB.
Paroxysmal central nervous system disorders v0.27 VAMP2 Rebecca Foulger Source NHS GMS was added to VAMP2.
Paroxysmal central nervous system disorders v0.27 PDE2A Rebecca Foulger Source NHS GMS was added to PDE2A.
Paroxysmal central nervous system disorders v0.27 PDE10A Rebecca Foulger Source NHS GMS was added to PDE10A.
Paroxysmal central nervous system disorders v0.27 WNK1 Rebecca Foulger Source NHS GMS was added to WNK1.
Paroxysmal central nervous system disorders v0.27 UBR4 Rebecca Foulger Source NHS GMS was added to UBR4.
Paroxysmal central nervous system disorders v0.27 TTR Rebecca Foulger Source NHS GMS was added to TTR.
Paroxysmal central nervous system disorders v0.27 TRPV4 Rebecca Foulger Source NHS GMS was added to TRPV4.
Paroxysmal central nervous system disorders v0.27 TRPA1 Rebecca Foulger Source NHS GMS was added to TRPA1.
Paroxysmal central nervous system disorders v0.27 SPTLC2 Rebecca Foulger Source NHS GMS was added to SPTLC2.
Paroxysmal central nervous system disorders v0.27 SPTLC1 Rebecca Foulger Source NHS GMS was added to SPTLC1.
Paroxysmal central nervous system disorders v0.27 SLC6A4 Rebecca Foulger Source NHS GMS was added to SLC6A4.
Paroxysmal central nervous system disorders v0.27 SEPT9 Rebecca Foulger Source NHS GMS was added to SEPT9.
Paroxysmal central nervous system disorders v0.27 SCN9A Rebecca Foulger Source NHS GMS was added to SCN9A.
Paroxysmal central nervous system disorders v0.27 SCN4A Rebecca Foulger Source NHS GMS was added to SCN4A.
Paroxysmal central nervous system disorders v0.27 SCN11A Rebecca Foulger Source NHS GMS was added to SCN11A.
Paroxysmal central nervous system disorders v0.27 SCN10A Rebecca Foulger Source NHS GMS was added to SCN10A.
Paroxysmal central nervous system disorders v0.27 RYR1 Rebecca Foulger Source NHS GMS was added to RYR1.
Paroxysmal central nervous system disorders v0.27 RETREG1 Rebecca Foulger Source NHS GMS was added to RETREG1.
Paroxysmal central nervous system disorders v0.27 RAB7A Rebecca Foulger Source NHS GMS was added to RAB7A.
Paroxysmal central nervous system disorders v0.27 PYGM Rebecca Foulger Source NHS GMS was added to PYGM.
Paroxysmal central nervous system disorders v0.27 PRNP Rebecca Foulger Source NHS GMS was added to PRNP.
Paroxysmal central nervous system disorders v0.27 PRDM12 Rebecca Foulger Source NHS GMS was added to PRDM12.
Paroxysmal central nervous system disorders v0.27 PER2 Rebecca Foulger Source NHS GMS was added to PER2.
Paroxysmal central nervous system disorders v0.27 NTRK2 Rebecca Foulger Source NHS GMS was added to NTRK2.
Paroxysmal central nervous system disorders v0.27 NTRK1 Rebecca Foulger Source NHS GMS was added to NTRK1.
Paroxysmal central nervous system disorders v0.27 NGF Rebecca Foulger Source NHS GMS was added to NGF.
Paroxysmal central nervous system disorders v0.27 NAGLU Rebecca Foulger Source NHS GMS was added to NAGLU.
Paroxysmal central nervous system disorders v0.27 MT-ATP8 Rebecca Foulger Source NHS GMS was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.27 MT-ATP6 Rebecca Foulger Source NHS GMS was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.27 MPV17 Rebecca Foulger Source NHS GMS was added to MPV17.
Paroxysmal central nervous system disorders v0.27 KIF1A Rebecca Foulger Source NHS GMS was added to KIF1A.
Paroxysmal central nervous system disorders v0.27 KCNJ2 Rebecca Foulger Source NHS GMS was added to KCNJ2.
Paroxysmal central nervous system disorders v0.27 KCNJ18 Rebecca Foulger Source NHS GMS was added to KCNJ18.
Paroxysmal central nervous system disorders v0.27 HTT Rebecca Foulger Source NHS GMS was added to HTT.
Paroxysmal central nervous system disorders v0.27 HSPG2 Rebecca Foulger Source NHS GMS was added to HSPG2.
Paroxysmal central nervous system disorders v0.27 HLA-DQB1 Rebecca Foulger Source NHS GMS was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.27 HCRT Rebecca Foulger Source NHS GMS was added to HCRT.
Paroxysmal central nervous system disorders v0.27 GLA Rebecca Foulger Source NHS GMS was added to GLA.
Paroxysmal central nervous system disorders v0.27 EXT1 Rebecca Foulger Source NHS GMS was added to EXT1.
Paroxysmal central nervous system disorders v0.27 ELP1 Rebecca Foulger Source NHS GMS was added to ELP1.
Paroxysmal central nervous system disorders v0.27 EIF3G Rebecca Foulger Source NHS GMS was added to EIF3G.
Paroxysmal central nervous system disorders v0.27 DMPK Rebecca Foulger Source NHS GMS was added to DMPK.
Paroxysmal central nervous system disorders v0.27 CNBP Rebecca Foulger Source NHS GMS was added to CNBP.
Paroxysmal central nervous system disorders v0.27 CLTCL1 Rebecca Foulger Source NHS GMS was added to CLTCL1.
Paroxysmal central nervous system disorders v0.27 CLCN1 Rebecca Foulger Source NHS GMS was added to CLCN1.
Paroxysmal central nervous system disorders v0.27 CCT5 Rebecca Foulger Source NHS GMS was added to CCT5.
Paroxysmal central nervous system disorders v0.27 CACNA1S Rebecca Foulger Source NHS GMS was added to CACNA1S.
Paroxysmal central nervous system disorders v0.27 ATP7B Rebecca Foulger Source NHS GMS was added to ATP7B.
Paroxysmal central nervous system disorders v0.27 ATP2A1 Rebecca Foulger Source NHS GMS was added to ATP2A1.
Paroxysmal central nervous system disorders v0.27 ATN1 Rebecca Foulger Source NHS GMS was added to ATN1.
Paroxysmal central nervous system disorders v0.27 ATL3 Rebecca Foulger Source NHS GMS was added to ATL3.
Paroxysmal central nervous system disorders v0.27 ATL1 Rebecca Foulger Source NHS GMS was added to ATL1.
Paroxysmal central nervous system disorders v0.27 AKR1C2 Rebecca Foulger Source NHS GMS was added to AKR1C2.
Paroxysmal central nervous system disorders v0.27 SPR Rebecca Foulger Source NHS GMS was added to SPR.
Paroxysmal central nervous system disorders v0.27 SLC6A5 Rebecca Foulger Source NHS GMS was added to SLC6A5.
Paroxysmal central nervous system disorders v0.27 SCN8A Rebecca Foulger Source NHS GMS was added to SCN8A.
Paroxysmal central nervous system disorders v0.27 NKX2-1 Rebecca Foulger Source NHS GMS was added to NKX2-1.
Paroxysmal central nervous system disorders v0.27 MOG Rebecca Foulger Source NHS GMS was added to MOG.
Paroxysmal central nervous system disorders v0.27 KCNQ3 Rebecca Foulger Source NHS GMS was added to KCNQ3.
Paroxysmal central nervous system disorders v0.27 KCNQ2 Rebecca Foulger Source NHS GMS was added to KCNQ2.
Paroxysmal central nervous system disorders v0.27 KCNK18 Rebecca Foulger Source NHS GMS was added to KCNK18.
Paroxysmal central nervous system disorders v0.27 KCNJ5 Rebecca Foulger Source NHS GMS was added to KCNJ5.
Paroxysmal central nervous system disorders v0.27 GLRB Rebecca Foulger Source NHS GMS was added to GLRB.
Paroxysmal central nervous system disorders v0.27 GLRA1 Rebecca Foulger Source NHS GMS was added to GLRA1.
Paroxysmal central nervous system disorders v0.27 CACNB4 Rebecca Foulger Source NHS GMS was added to CACNB4.
Paroxysmal central nervous system disorders v0.27 ATAD1 Rebecca Foulger Source NHS GMS was added to ATAD1.
Paroxysmal central nervous system disorders v0.27 SLC2A1 Rebecca Foulger Source NHS GMS was added to SLC2A1.
Paroxysmal central nervous system disorders v0.27 SLC1A3 Rebecca Foulger Source NHS GMS was added to SLC1A3.
Paroxysmal central nervous system disorders v0.27 SCN1A Rebecca Foulger Source NHS GMS was added to SCN1A.
Paroxysmal central nervous system disorders v0.27 PRRT2 Rebecca Foulger Source NHS GMS was added to PRRT2.
Paroxysmal central nervous system disorders v0.27 PNKD Rebecca Foulger Source NHS GMS was added to PNKD.
Paroxysmal central nervous system disorders v0.27 KCNMA1 Rebecca Foulger Source NHS GMS was added to KCNMA1.
Paroxysmal central nervous system disorders v0.27 KCNA1 Rebecca Foulger Source NHS GMS was added to KCNA1.
Paroxysmal central nervous system disorders v0.27 DNMT1 Rebecca Foulger Source NHS GMS was added to DNMT1.
Paroxysmal central nervous system disorders v0.27 CSNK1D Rebecca Foulger Source NHS GMS was added to CSNK1D.
Paroxysmal central nervous system disorders v0.27 CACNA1A Rebecca Foulger Source NHS GMS was added to CACNA1A.
Paroxysmal central nervous system disorders v0.27 ATP1A3 Rebecca Foulger Source NHS GMS was added to ATP1A3.
Paroxysmal central nervous system disorders v0.27 ATP1A2 Rebecca Foulger Source NHS GMS was added to ATP1A2.
Paroxysmal central nervous system disorders v0.27 ADCY5 Rebecca Foulger Source NHS GMS was added to ADCY5.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 MTOR Louise Daugherty Mode of inheritance for gene: MTOR was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting v1.58 EIF4A3 Louise Daugherty Mode of inheritance for gene: EIF4A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1022 DLG4 Louise Daugherty Mode of inheritance for gene: DLG4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.26 WNK1 Rebecca Foulger commented on gene: WNK1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TTR Rebecca Foulger commented on gene: TTR: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TRPV4 Rebecca Foulger commented on gene: TRPV4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TRPA1 Rebecca Foulger commented on gene: TRPA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TBP Rebecca Foulger reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SPTLC1 Rebecca Foulger commented on gene: SPTLC1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SPR Rebecca Foulger commented on gene: SPR: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC6A4 Rebecca Foulger commented on gene: SLC6A4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SEPT9 Rebecca Foulger commented on gene: SEPT9: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN9A Rebecca Foulger commented on gene: SCN9A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN8A Rebecca Foulger commented on gene: SCN8A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN4A Rebecca Foulger commented on gene: SCN4A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN11A Rebecca Foulger commented on gene: SCN11A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN10A Rebecca Foulger commented on gene: SCN10A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RYR1 Rebecca Foulger commented on gene: RYR1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RETREG1 Rebecca Foulger commented on gene: RETREG1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RAB7A Rebecca Foulger commented on gene: RAB7A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PYGM Rebecca Foulger commented on gene: PYGM: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRNP Rebecca Foulger commented on gene: PRNP: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRDM12 Rebecca Foulger commented on gene: PRDM12: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PER2 Rebecca Foulger commented on gene: PER2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NTRK2 Rebecca Foulger commented on gene: NTRK2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NTRK1 Rebecca Foulger commented on gene: NTRK1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NKX2-1 Rebecca Foulger commented on gene: NKX2-1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NGF Rebecca Foulger commented on gene: NGF: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NAGLU Rebecca Foulger commented on gene: NAGLU: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MT-ATP8 Rebecca Foulger commented on gene: MT-ATP8: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MT-ATP6 Rebecca Foulger commented on gene: MT-ATP6: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MPV17 Rebecca Foulger commented on gene: MPV17: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KIF1A Rebecca Foulger commented on gene: KIF1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNK18 Rebecca Foulger commented on gene: KCNK18: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ5 Rebecca Foulger commented on gene: KCNJ5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ2 Rebecca Foulger commented on gene: KCNJ2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ18 Rebecca Foulger commented on gene: KCNJ18: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HTT Rebecca Foulger commented on gene: HTT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HSPG2 Rebecca Foulger commented on gene: HSPG2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HLA-DQB1 Rebecca Foulger commented on gene: HLA-DQB1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HCRT Rebecca Foulger commented on gene: HCRT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLA Rebecca Foulger commented on gene: GLA: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 EXT1 Rebecca Foulger commented on gene: EXT1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ELP1 Rebecca Foulger commented on gene: ELP1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 EIF3G Rebecca Foulger commented on gene: EIF3G: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 DMPK Rebecca Foulger commented on gene: DMPK: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 CNBP Rebecca Foulger commented on gene: CNBP: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CLTCL1 Rebecca Foulger commented on gene: CLTCL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CLCN1 Rebecca Foulger commented on gene: CLCN1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CCT5 Rebecca Foulger commented on gene: CCT5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNA1S Rebecca Foulger commented on gene: CACNA1S: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP7B Rebecca Foulger commented on gene: ATP7B: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP2A1 Rebecca Foulger commented on gene: ATP2A1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATN1 Rebecca Foulger commented on gene: ATN1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATL3 Rebecca Foulger commented on gene: ATL3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATL1 Rebecca Foulger commented on gene: ATL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 AKR1C2 Rebecca Foulger commented on gene: AKR1C2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 VAMP2 Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC2A1 Rebecca Foulger commented on gene: SLC2A1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC1A3 Rebecca Foulger commented on gene: SLC1A3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN1A Rebecca Foulger commented on gene: SCN1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRRT2 Rebecca Foulger commented on gene: PRRT2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PNKD Rebecca Foulger commented on gene: PNKD: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PDE2A Rebecca Foulger reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 MOG Rebecca Foulger commented on gene: MOG: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNA1 Rebecca Foulger commented on gene: KCNA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLRB Rebecca Foulger commented on gene: GLRB: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLRA1 Rebecca Foulger commented on gene: GLRA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 DNMT1 Rebecca Foulger commented on gene: DNMT1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CSNK1D Rebecca Foulger commented on gene: CSNK1D: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNB4 Rebecca Foulger commented on gene: CACNB4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNA1A Rebecca Foulger commented on gene: CACNA1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ADCY5 Rebecca Foulger commented on gene: ADCY5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.25 WNK1 James Polke reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TTR James Polke reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TRPV4 James Polke reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TRPA1 James Polke reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TBP James Polke reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPTLC2 James Polke reviewed gene: SPTLC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPTLC1 James Polke reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPR James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC6A4 James Polke reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SEPT9 James Polke reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN9A James Polke reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN4A James Polke reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN11A James Polke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN10A James Polke reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RYR1 James Polke reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RETREG1 James Polke reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RAB7A James Polke reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PYGM James Polke reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRNP James Polke reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRDM12 James Polke reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PER2 James Polke reviewed gene: PER2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NTRK2 James Polke reviewed gene: NTRK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NTRK1 James Polke reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NKX2-1 James Polke reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NGF James Polke reviewed gene: NGF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NAGLU James Polke reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MT-ATP8 James Polke reviewed gene: MT-ATP8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MPV17 James Polke reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KIF1A James Polke reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ5 James Polke reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ2 James Polke reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ18 James Polke reviewed gene: KCNJ18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HTT James Polke reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HSPG2 James Polke reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HLA-DQB1 James Polke reviewed gene: HLA-DQB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HCRT James Polke reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLA James Polke reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 EXT1 James Polke reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ELP1 James Polke reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 EIF3G James Polke reviewed gene: EIF3G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 DMPK James Polke reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CNBP James Polke reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CLTCL1 James Polke reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CLCN1 James Polke reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CCT5 James Polke reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNA1S James Polke reviewed gene: CACNA1S: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP7B James Polke reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP2A1 James Polke reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATN1 James Polke reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATL3 James Polke reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 AKR1C2 James Polke reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 VAMP2 James Polke reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN1A James Polke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRRT2 James Polke reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PNKD James Polke reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE2A James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE10A James Polke reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MOG James Polke reviewed gene: MOG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNA1 James Polke reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLRB James Polke reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLRA1 James Polke reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CSNK1D James Polke reviewed gene: CSNK1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNB4 James Polke reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ADCY5 James Polke reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 WNK1 Rebecca Foulger Source London North GLH was added to WNK1.
Paroxysmal central nervous system disorders v0.24 TTR Rebecca Foulger Source London North GLH was added to TTR.
Paroxysmal central nervous system disorders v0.24 TRPV4 Rebecca Foulger Source London North GLH was added to TRPV4.
Paroxysmal central nervous system disorders v0.24 TRPA1 Rebecca Foulger Source London North GLH was added to TRPA1.
Paroxysmal central nervous system disorders v0.24 TBP Rebecca Foulger gene: TBP was added
gene: TBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH
Mode of inheritance for gene: TBP was set to
Paroxysmal central nervous system disorders v0.24 SPTLC2 Rebecca Foulger Source London North GLH was added to SPTLC2.
Paroxysmal central nervous system disorders v0.24 SPTLC1 Rebecca Foulger Source London North GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.24 SPR Rebecca Foulger Source London North GLH was added to SPR.
Paroxysmal central nervous system disorders v0.24 SLC6A4 Rebecca Foulger Source London North GLH was added to SLC6A4.
Paroxysmal central nervous system disorders v0.24 SEPT9 Rebecca Foulger Source London North GLH was added to SEPT9.
Paroxysmal central nervous system disorders v0.24 SCN9A Rebecca Foulger Source London North GLH was added to SCN9A.
Paroxysmal central nervous system disorders v0.24 SCN8A Rebecca Foulger Source London North GLH was added to SCN8A.
Paroxysmal central nervous system disorders v0.24 SCN4A Rebecca Foulger Source London North GLH was added to SCN4A.
Paroxysmal central nervous system disorders v0.24 SCN11A Rebecca Foulger Source London North GLH was added to SCN11A.
Paroxysmal central nervous system disorders v0.24 SCN10A Rebecca Foulger Source London North GLH was added to SCN10A.
Paroxysmal central nervous system disorders v0.24 RYR1 Rebecca Foulger Source London North GLH was added to RYR1.
Paroxysmal central nervous system disorders v0.24 RETREG1 Rebecca Foulger Source London North GLH was added to RETREG1.
Paroxysmal central nervous system disorders v0.24 RAB7A Rebecca Foulger Source London North GLH was added to RAB7A.
Paroxysmal central nervous system disorders v0.24 PYGM Rebecca Foulger Source London North GLH was added to PYGM.
Paroxysmal central nervous system disorders v0.24 PRNP Rebecca Foulger Source London North GLH was added to PRNP.
Paroxysmal central nervous system disorders v0.24 PRDM12 Rebecca Foulger Source London North GLH was added to PRDM12.
Paroxysmal central nervous system disorders v0.24 PER2 Rebecca Foulger Source London North GLH was added to PER2.
Paroxysmal central nervous system disorders v0.24 NTRK2 Rebecca Foulger Source London North GLH was added to NTRK2.
Paroxysmal central nervous system disorders v0.24 NTRK1 Rebecca Foulger Source London North GLH was added to NTRK1.
Paroxysmal central nervous system disorders v0.24 NKX2-1 Rebecca Foulger Source London North GLH was added to NKX2-1.
Paroxysmal central nervous system disorders v0.24 NGF Rebecca Foulger Source London North GLH was added to NGF.
Paroxysmal central nervous system disorders v0.24 NAGLU Rebecca Foulger Source London North GLH was added to NAGLU.
Paroxysmal central nervous system disorders v0.24 MT-ATP8 Rebecca Foulger Source London North GLH was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.24 MT-ATP6 Rebecca Foulger Source London North GLH was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.24 MPV17 Rebecca Foulger Source London North GLH was added to MPV17.
Paroxysmal central nervous system disorders v0.24 KIF1A Rebecca Foulger Source London North GLH was added to KIF1A.
Paroxysmal central nervous system disorders v0.24 KCNQ3 Rebecca Foulger Source London North GLH was added to KCNQ3.
Paroxysmal central nervous system disorders v0.24 KCNK18 Rebecca Foulger Source London North GLH was added to KCNK18.
Paroxysmal central nervous system disorders v0.24 KCNJ5 Rebecca Foulger Source London North GLH was added to KCNJ5.
Paroxysmal central nervous system disorders v0.24 KCNJ2 Rebecca Foulger Source London North GLH was added to KCNJ2.
Paroxysmal central nervous system disorders v0.24 KCNJ18 Rebecca Foulger Source London North GLH was added to KCNJ18.
Paroxysmal central nervous system disorders v0.24 ISCA-37468-Loss Rebecca Foulger Source London North GLH was added to Region: ISCA-37468-Loss.
Paroxysmal central nervous system disorders v0.24 HTT Rebecca Foulger Source London North GLH was added to HTT.
Paroxysmal central nervous system disorders v0.24 HSPG2 Rebecca Foulger Source London North GLH was added to HSPG2.
Paroxysmal central nervous system disorders v0.24 HLA-DQB1 Rebecca Foulger Source London North GLH was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.24 HCRT Rebecca Foulger Source London North GLH was added to HCRT.
Paroxysmal central nervous system disorders v0.24 GLA Rebecca Foulger Source London North GLH was added to GLA.
Paroxysmal central nervous system disorders v0.24 EXT1 Rebecca Foulger Source London North GLH was added to EXT1.
Paroxysmal central nervous system disorders v0.24 ELP1 Rebecca Foulger Source London North GLH was added to ELP1.
Paroxysmal central nervous system disorders v0.24 EIF3G Rebecca Foulger Source London North GLH was added to EIF3G.
Paroxysmal central nervous system disorders v0.24 DMPK Rebecca Foulger Source London North GLH was added to DMPK.
Paroxysmal central nervous system disorders v0.24 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH
Mode of inheritance for gene: CSTB was set to
Paroxysmal central nervous system disorders v0.24 CNBP Rebecca Foulger Source London North GLH was added to CNBP.
Paroxysmal central nervous system disorders v0.24 CLTCL1 Rebecca Foulger Source London North GLH was added to CLTCL1.
Paroxysmal central nervous system disorders v0.24 CLCN1 Rebecca Foulger Source London North GLH was added to CLCN1.
Paroxysmal central nervous system disorders v0.24 CCT5 Rebecca Foulger Source London North GLH was added to CCT5.
Paroxysmal central nervous system disorders v0.24 CACNA1S Rebecca Foulger Source London North GLH was added to CACNA1S.
Paroxysmal central nervous system disorders v0.24 ATP7B Rebecca Foulger Source London North GLH was added to ATP7B.
Paroxysmal central nervous system disorders v0.24 ATP2A1 Rebecca Foulger Source London North GLH was added to ATP2A1.
Paroxysmal central nervous system disorders v0.24 ATN1 Rebecca Foulger Source London North GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.24 ATL3 Rebecca Foulger Source London North GLH was added to ATL3.
Paroxysmal central nervous system disorders v0.24 ATL1 Rebecca Foulger Source London North GLH was added to ATL1.
Paroxysmal central nervous system disorders v0.24 AKR1C2 Rebecca Foulger Source London North GLH was added to AKR1C2.
Paroxysmal central nervous system disorders v0.24 VAMP2 Rebecca Foulger gene: VAMP2 was added
gene: VAMP2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: VAMP2 was set to
Paroxysmal central nervous system disorders v0.24 SLC6A5 Rebecca Foulger Source London North GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.24 SLC2A1 Rebecca Foulger Source London North GLH was added to SLC2A1.
Paroxysmal central nervous system disorders v0.24 SLC1A3 Rebecca Foulger Source London North GLH was added to SLC1A3.
Paroxysmal central nervous system disorders v0.24 SCN1A Rebecca Foulger Source London North GLH was added to SCN1A.
Paroxysmal central nervous system disorders v0.24 PRRT2 Rebecca Foulger Source London North GLH was added to PRRT2.
Paroxysmal central nervous system disorders v0.24 PNKD Rebecca Foulger Source London North GLH was added to PNKD.
Paroxysmal central nervous system disorders v0.24 PDE2A Rebecca Foulger gene: PDE2A was added
gene: PDE2A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE2A was set to
Paroxysmal central nervous system disorders v0.24 PDE10A Rebecca Foulger gene: PDE10A was added
gene: PDE10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE10A was set to
Paroxysmal central nervous system disorders v0.24 MOG Rebecca Foulger Source London North GLH was added to MOG.
Paroxysmal central nervous system disorders v0.24 KCNQ2 Rebecca Foulger Source London North GLH was added to KCNQ2.
Paroxysmal central nervous system disorders v0.24 KCNA1 Rebecca Foulger Source London North GLH was added to KCNA1.
Paroxysmal central nervous system disorders v0.24 GLRB Rebecca Foulger Source London North GLH was added to GLRB.
Paroxysmal central nervous system disorders v0.24 GLRA1 Rebecca Foulger Source London North GLH was added to GLRA1.
Paroxysmal central nervous system disorders v0.24 DNMT1 Rebecca Foulger Source London North GLH was added to DNMT1.
Paroxysmal central nervous system disorders v0.24 CSNK1D Rebecca Foulger Source London North GLH was added to CSNK1D.
Paroxysmal central nervous system disorders v0.24 CACNB4 Rebecca Foulger Source London North GLH was added to CACNB4.
Paroxysmal central nervous system disorders v0.24 CACNA1A Rebecca Foulger Source London North GLH was added to CACNA1A.
Paroxysmal central nervous system disorders v0.24 ATP1A3 Rebecca Foulger Source London North GLH was added to ATP1A3.
Paroxysmal central nervous system disorders v0.24 ATP1A2 Rebecca Foulger Source London North GLH was added to ATP1A2.
Paroxysmal central nervous system disorders v0.24 ADCY5 Rebecca Foulger Source London North GLH was added to ADCY5.
Renal tubulopathies v1.82 UMOD Eleanor Williams commented on gene: UMOD: Associated with Glomerulocystic kidney disease with hyperuricemia and isosthenuria #609886, Hyperuricemic nephropathy, familial juvenile 1 #162000 and Medullary cystic kidney disease 2 #603860 in OMIM.

Many cases reported in OMIM.
Renal tubulopathies v1.82 WNK1 Eleanor Williams commented on gene: WNK1: Associated with Pseudohypoaldosteronism, type IIC (#614492) in OMIM,

PMID: 11498583 - Wilson et al - 2001 - in one large family with 10 members affected by pseudohypoaldosteronism type II they identified a 41-kb deletion in intron 1 of WNK1 that segregated with the disease. In another family previously described by Disse-Nicodeme et al. (2000), they identified a 22-kb deletion within intron 1 of WNK1. Functional studies showed this deletion increased the expression of WNK1.
Paroxysmal central nervous system disorders v0.23 WNK1 Rebecca Foulger reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 UBR4 Rebecca Foulger reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TTR Rebecca Foulger reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TRPV4 Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TRPA1 Rebecca Foulger reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPTLC2 Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPTLC1 Rebecca Foulger reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC6A4 Rebecca Foulger reviewed gene: SLC6A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SEPT9 Rebecca Foulger reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN10A Rebecca Foulger reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RYR1 Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RETREG1 Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RAB7A Rebecca Foulger reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PYGM Rebecca Foulger reviewed gene: PYGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRNP Rebecca Foulger reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRDM12 Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PER2 Rebecca Foulger reviewed gene: PER2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NGF Rebecca Foulger reviewed gene: NGF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NAGLU Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MT-ATP8 Rebecca Foulger reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MT-ATP6 Rebecca Foulger reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MPV17 Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ2 Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ18 Rebecca Foulger reviewed gene: KCNJ18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HTT Rebecca Foulger reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HSPG2 Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HLA-DQB1 Rebecca Foulger reviewed gene: HLA-DQB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HCRT Rebecca Foulger reviewed gene: HCRT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLA Rebecca Foulger reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ELP1 Rebecca Foulger reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 EIF3G Rebecca Foulger reviewed gene: EIF3G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 DMPK Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CNBP Rebecca Foulger reviewed gene: CNBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CLTCL1 Rebecca Foulger reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CLCN1 Rebecca Foulger reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CCT5 Rebecca Foulger reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNA1S Rebecca Foulger reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP7B Rebecca Foulger reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP2A1 Rebecca Foulger reviewed gene: ATP2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATL3 Rebecca Foulger reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATL1 Rebecca Foulger reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 AKR1C2 Rebecca Foulger reviewed gene: AKR1C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPR Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MOG Rebecca Foulger reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNK18 Rebecca Foulger reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ5 Rebecca Foulger reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLRB Rebecca Foulger reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLRA1 Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNB4 Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATAD1 Rebecca Foulger reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC1A3 Rebecca Foulger reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PNKD Rebecca Foulger reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNMA1 Rebecca Foulger reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNA1 Rebecca Foulger reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 DNMT1 Rebecca Foulger reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CSNK1D Rebecca Foulger reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNA1A Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP1A2 Rebecca Foulger reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ADCY5 Rebecca Foulger reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 WNK1 Tracy Lester reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II, 201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 UBR4 Tracy Lester reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: ; Publications: 23982692; Phenotypes: Episodic ataxia, type 8, 616055; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 TTR Tracy Lester reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carpal tunnel syndrome, familial, 115430, Amyloidosis, hereditary, transthyretin-related, 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 TRPV4 Tracy Lester reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, 606071, [also many others]; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 TRPA1 Tracy Lester reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 1, 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SPTLC2 Tracy Lester reviewed gene: SPTLC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SPTLC1 Tracy Lester reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HSAN 1, Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SLC6A4 Tracy Lester reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Anxiety-related personality traits} 607834, {Obsessive-compulsive disorder} 164230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SEPT9 Tracy Lester reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, 162100, Hereditary neuralgic amyotrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN9A Tracy Lester reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Erythermalgia, primary, AD, 133020, Small fiber neuropathy,133020, Febrile seizures, familial, 3B, 613863, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, congenital, 243000, HSAN2D, autosomal recessive, AR, 243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SCN4A Tracy Lester reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic Periodic Paralysis, Susceptibility To, 2, Hypokalemic periodic paralysis, type 2, 613, Potassium-Aggravated Myotonia, Hyperkalemic periodic paralysis, type 2, 170500, Myasthenic syndrome, acetazolamide-responsive, 614198, Hyperkalemic Periodic Paralysis, Episodic weakness, Myotonia, Hypokalemic Periodic Paralysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN11A Tracy Lester reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 3, 615552, Neuropathy, hereditary sensory and autonomic, type VII, 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN10A Tracy Lester reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 2, 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 RYR1 Tracy Lester reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Central core disease of muscle, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 RETREG1 Tracy Lester reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 RAB7A Tracy Lester reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B, 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PYGM Tracy Lester reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 PRNP Tracy Lester reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy, PRNP-related, 137440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PRDM12 Tracy Lester reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 PER2 Tracy Lester reviewed gene: PER2: Rating: RED; Mode of pathogenicity: ; Publications: 11232563; Phenotypes: Advanced sleep phase syndrome, familial, 1, 604348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NTRK2 Tracy Lester reviewed gene: NTRK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 58, 617830, Obesity, hyperphagia, and developmental delay, 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NTRK1 Tracy Lester reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis (Hereditary sensory and autonomic neuropathy IV), 256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 NGF Tracy Lester reviewed gene: NGF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 NAGLU Tracy Lester reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920, Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 MT-ATP8 Tracy Lester reviewed gene: MT-ATP8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.22 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, ataxia, and retinitis pigmentosa, 551500; Mode of inheritance: MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.22 MPV17 Tracy Lester reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, type IIC, 614213, Spastic paraplegia 30, autosomal recessive, 610357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 KCNJ2 Tracy Lester reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Andersen cardiodysrhythmic periodic paralysis (Andersen syndrome), 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNJ18 Tracy Lester reviewed gene: KCNJ18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic periodic paralysis, susceptibility to, 2, 613239; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 HTT Tracy Lester reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 HSPG2 Tracy Lester reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, 255800, Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 HLA-DQB1 Tracy Lester reviewed gene: HLA-DQB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Kleine-Levin hibernation syndrome, 148840; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 HCRT Tracy Lester reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: ; Publications: 10973318; Phenotypes: ?Narcolepsy 1, 161400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 GLA Tracy Lester reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paroxysmal central nervous system disorders v0.22 EXT1 Tracy Lester reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ELP1 Tracy Lester reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Hereditary Sensory and Autonomic, Type III (also known as Dysautonomia, familial), 223900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 EIF3G Tracy Lester reviewed gene: EIF3G: Rating: RED; Mode of pathogenicity: ; Publications: 25669430; Phenotypes: Narcolepsy; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 DMPK Tracy Lester reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MYOTONIC DYSTROPHY 1 (DM1), Myotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 CNBP Tracy Lester reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia, MYOTONIC DYSTROPHY 2 (DM2); Mode of inheritance: Other - please specifiy in evaluation comments
Paroxysmal central nervous system disorders v0.22 CLTCL1 Tracy Lester reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital insensitivity to pain; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 CLCN1 Tracy Lester reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia congenita, recessive, 255700, Myotonia congenita, dominant, 160800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CCT5 Tracy Lester reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CACNA1S Tracy Lester reviewed gene: CACNA1S: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypokalemic periodic paralysis, type 1, 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease, 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 ATP2A1 Tracy Lester reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 ATN1 Tracy Lester reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATL3 Tracy Lester reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, type IF, 615632; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATL1 Tracy Lester reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant, 182600, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 AKR1C2 Tracy Lester reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Obesity, hyperphagia, and developmental delay; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 SPR Tracy Lester reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 13, 614558, Seizures, benign familial infantile, 5, 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NKX2-1 Tracy Lester reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24555207, 12196653; Phenotypes: Chorea, hereditary benign, 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 MOG Tracy Lester reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: 21907016; Phenotypes: Narcolepsy 7, 614250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: 20871611, 22355750; Phenotypes: Migraine, with or without aura, susceptibility to, 13, 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNJ5 Tracy Lester reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperaldosteronism, familial, type III, 613677, Long QT syndrome 13, 613485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 GLRB Tracy Lester reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATAD1 Tracy Lester reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 4, 618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, GLUT1 deficiency syndrome 2, childhood onset, 612126, Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208, Epilepsy, generalized, with febrile seizures plus, type 2, 604403, Migraine, familial hemiplegic, 3, 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 PNKD Tracy Lester reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNMA1 Tracy Lester reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic Ataxia, type 1 (Episodic ataxia/myokymia syndrome), 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 CSNK1D Tracy Lester reviewed gene: CSNK1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25660813, 23636092, 15800623; Phenotypes: Advanced sleep-phase syndrome, familial, 2, 615224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, Migraine, familial hemiplegic, 1, 141500, Episodic Ataxia, type 2, 108500, Epileptic encephalopathy, early infantile, 42, 617106, Spinocerebellar ataxia 6, 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia-12, 128235, Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial basilar, 602481, Migraine, familial hemiplegic, 2, 602481, alternating hemiplegia of childhood 1, 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.21 WNK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to WNK1.
Paroxysmal central nervous system disorders v0.21 UBR4 Rebecca Foulger gene: UBR4 was added
gene: UBR4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,Wessex and West Midlands GLH
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia, type 8, 616055
Paroxysmal central nervous system disorders v0.21 TTR Rebecca Foulger Source Wessex and West Midlands GLH was added to TTR.
Paroxysmal central nervous system disorders v0.21 TRPV4 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPV4.
Paroxysmal central nervous system disorders v0.21 TRPA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPA1.
Paroxysmal central nervous system disorders v0.21 SPTLC2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC2.
Paroxysmal central nervous system disorders v0.21 SPTLC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.21 SLC6A4 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A4.
Paroxysmal central nervous system disorders v0.21 SEPT9 Rebecca Foulger Source Wessex and West Midlands GLH was added to SEPT9.
Paroxysmal central nervous system disorders v0.21 SCN9A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN9A.
Paroxysmal central nervous system disorders v0.21 SCN4A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN4A.
Paroxysmal central nervous system disorders v0.21 SCN11A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN11A.
Paroxysmal central nervous system disorders v0.21 SCN10A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN10A.
Paroxysmal central nervous system disorders v0.21 RYR1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR1.
Paroxysmal central nervous system disorders v0.21 RETREG1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RETREG1.
Paroxysmal central nervous system disorders v0.21 RAB7A Rebecca Foulger Source Wessex and West Midlands GLH was added to RAB7A.
Paroxysmal central nervous system disorders v0.21 PYGM Rebecca Foulger Source Wessex and West Midlands GLH was added to PYGM.
Paroxysmal central nervous system disorders v0.21 PRNP Rebecca Foulger Source Wessex and West Midlands GLH was added to PRNP.
Paroxysmal central nervous system disorders v0.21 PRDM12 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRDM12.
Paroxysmal central nervous system disorders v0.21 PER2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PER2.
Paroxysmal central nervous system disorders v0.21 NTRK2 Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK2.
Paroxysmal central nervous system disorders v0.21 NTRK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK1.
Paroxysmal central nervous system disorders v0.21 NGF Rebecca Foulger Source Wessex and West Midlands GLH was added to NGF.
Paroxysmal central nervous system disorders v0.21 NAGLU Rebecca Foulger Source Wessex and West Midlands GLH was added to NAGLU.
Paroxysmal central nervous system disorders v0.21 MT-ATP8 Rebecca Foulger Source Wessex and West Midlands GLH was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.21 MT-ATP6 Rebecca Foulger Source Wessex and West Midlands GLH was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.21 MPV17 Rebecca Foulger Source Wessex and West Midlands GLH was added to MPV17.
Paroxysmal central nervous system disorders v0.21 KIF1A Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF1A.
Paroxysmal central nervous system disorders v0.21 KCNJ2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ2.
Paroxysmal central nervous system disorders v0.21 KCNJ18 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ18.
Paroxysmal central nervous system disorders v0.21 HTT Rebecca Foulger Source Wessex and West Midlands GLH was added to HTT.
Paroxysmal central nervous system disorders v0.21 HSPG2 Rebecca Foulger Source Wessex and West Midlands GLH was added to HSPG2.
Paroxysmal central nervous system disorders v0.21 HLA-DQB1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.21 HCRT Rebecca Foulger Source Wessex and West Midlands GLH was added to HCRT.
Paroxysmal central nervous system disorders v0.21 GLA Rebecca Foulger Source Wessex and West Midlands GLH was added to GLA.
Paroxysmal central nervous system disorders v0.21 EXT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to EXT1.
Paroxysmal central nervous system disorders v0.21 ELP1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ELP1.
Paroxysmal central nervous system disorders v0.21 EIF3G Rebecca Foulger Source Wessex and West Midlands GLH was added to EIF3G.
Paroxysmal central nervous system disorders v0.21 DMPK Rebecca Foulger Source Wessex and West Midlands GLH was added to DMPK.
Paroxysmal central nervous system disorders v0.21 CNBP Rebecca Foulger Source Wessex and West Midlands GLH was added to CNBP.
Paroxysmal central nervous system disorders v0.21 CLTCL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLTCL1.
Paroxysmal central nervous system disorders v0.21 CLCN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN1.
Paroxysmal central nervous system disorders v0.21 CCT5 Rebecca Foulger Source Wessex and West Midlands GLH was added to CCT5.
Paroxysmal central nervous system disorders v0.21 CACNA1S Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1S.
Paroxysmal central nervous system disorders v0.21 ATP7B Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP7B.
Paroxysmal central nervous system disorders v0.21 ATP2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP2A1.
Paroxysmal central nervous system disorders v0.21 ATN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.21 ATL3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL3.
Paroxysmal central nervous system disorders v0.21 ATL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL1.
Paroxysmal central nervous system disorders v0.21 AKR1C2 Rebecca Foulger Source Wessex and West Midlands GLH was added to AKR1C2.
Paroxysmal central nervous system disorders v0.21 SPR Rebecca Foulger Source Wessex and West Midlands GLH was added to SPR.
Paroxysmal central nervous system disorders v0.21 SLC6A5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.21 SCN8A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN8A.
Paroxysmal central nervous system disorders v0.21 NKX2-1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NKX2-1.
Paroxysmal central nervous system disorders v0.21 MOG Rebecca Foulger Source Wessex and West Midlands GLH was added to MOG.
Paroxysmal central nervous system disorders v0.21 KCNQ3 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNQ3.
Paroxysmal central nervous system disorders v0.21 KCNQ2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNQ2.
Paroxysmal central nervous system disorders v0.21 KCNK18 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNK18.
Paroxysmal central nervous system disorders v0.21 KCNJ5 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ5.
Paroxysmal central nervous system disorders v0.21 GLRB Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRB.
Paroxysmal central nervous system disorders v0.21 GLRA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRA1.
Paroxysmal central nervous system disorders v0.21 CACNB4 Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNB4.
Paroxysmal central nervous system disorders v0.21 ATAD1 Rebecca Foulger gene: ATAD1 was added
gene: ATAD1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Wessex and West Midlands GLH,Expert Review Amber
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011
Paroxysmal central nervous system disorders v0.21 SLC2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC2A1.
Paroxysmal central nervous system disorders v0.21 SLC1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC1A3.
Paroxysmal central nervous system disorders v0.21 SCN1A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN1A.
Paroxysmal central nervous system disorders v0.21 PRRT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRRT2.
Paroxysmal central nervous system disorders v0.21 PNKD Rebecca Foulger Source Wessex and West Midlands GLH was added to PNKD.
Paroxysmal central nervous system disorders v0.21 KCNMA1 Rebecca Foulger gene: KCNMA1 was added
gene: KCNMA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,Wessex and West Midlands GLH
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Paroxysmal central nervous system disorders v0.21 KCNA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNA1.
Paroxysmal central nervous system disorders v0.21 DNMT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DNMT1.
Paroxysmal central nervous system disorders v0.21 CSNK1D Rebecca Foulger Source Wessex and West Midlands GLH was added to CSNK1D.
Paroxysmal central nervous system disorders v0.21 CACNA1A Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1A.
Paroxysmal central nervous system disorders v0.21 ATP1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A3.
Paroxysmal central nervous system disorders v0.21 ATP1A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A2.
Paroxysmal central nervous system disorders v0.21 ADCY5 Rebecca Foulger Source Wessex and West Midlands GLH was added to ADCY5.
Renal tubulopathies v1.82 WNK4 Eleanor Williams commented on gene: WNK4: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM.

PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of
which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat
Intellectual disability v2.1021 MED25 Konstantinos Varvagiannis changed review comment from: Please consider the 2 additional articles by Nair et al. (2019 - DOI: 10.1159/000494465 - PMID: 30800049 & DOI: 10.1159/000501114 - PMID: NA) reporting on 3 individuals from 2 consanguineous Lebanese families. All affected individuals were homozygous for a MED25 missense variant [NM_030973.3:c.518T>C / p.Ile173Thr], possibly a founder mutation in the Lebanese population. The phenotype presented some similarities with the previously described patients. The variant has a very low AF in gnomAD (0.00003470) and was also absent from the Saudi Variant Database. In silico predictions from PolyPhen2, PROVEAN, MutationTaster were suggestive of a probably damaging effect. The individual from the first report (PMID: 30800049) had an additional homozygous COQ8A variant, with some features fitting with the phenotype of AR primary CoQ10 deficiency type 4 and others negating this diagnosis.

MED25 is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc, Victorian Clinical Genetics and many others). It is not however included in the DD panel of G2P.; to: Please consider the 2 additional articles by Nair et al. (2019 - DOI: 10.1159/000494465 - PMID: 30800049 & DOI: 10.1159/000501114 - PMID: NA) reporting on 3 individuals from 2 consanguineous Lebanese families. All affected individuals were homozygous for a MED25 missense variant [NM_030973.3:c.518T>C / p.Ile173Thr], possibly a founder mutation in the Lebanese population. The phenotype presented some similarities with the previously described patients. The variant has a very low AF in gnomAD (0.00003470) and was also absent from the Saudi Variant Database. In silico predictions from PolyPhen2, PROVEAN, MutationTaster were suggestive of a probably damaging effect. The individual from the first report (PMID: 30800049) had an additional homozygous COQ8A variant, with some features fitting with the phenotype of AR primary CoQ10 deficiency type 4 and others negating this (possibly concurrent) diagnosis.

MED25 is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc, Victorian Clinical Genetics and many others). It is not however included in the DD panel of G2P.
Intellectual disability v2.1021 MED25 Konstantinos Varvagiannis reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: None; Publications: 30800049, DOI:10.1159/000501114, 25527630, 25792360; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome (MIM 616449); Mode of inheritance: None; Current diagnostic: yes
Renal tubulopathies v1.82 REN Eleanor Williams changed review comment from: Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.

PMID: 16116425 - Gribouval et al 2005 - abstract only accessed. They studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. From the abstract cannot tell how many families had mutations in renin but the review of Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in the Gribouval et al 2005 paper and the 2012 report, and other publications Michaud et al. [2011](PMID: 21036942), Bacchetta et al. [2007](PMID: 17555949).

PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.; to: Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.

Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in this study and Gribouval et al 2005 (PMID: 16116425), Michaud et al. [2011](PMID: 21036942) and Bacchetta et al. [2007](PMID: 17555949).

PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.
Renal tubulopathies v1.82 REN Eleanor Williams commented on gene: REN: Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.

PMID: 16116425 - Gribouval et al 2005 - abstract only accessed. They studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. From the abstract cannot tell how many families had mutations in renin but the review of Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in the Gribouval et al 2005 paper and the 2012 report, and other publications Michaud et al. [2011](PMID: 21036942), Bacchetta et al. [2007](PMID: 17555949).

PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.
Renal tubulopathies v1.82 OCRL Eleanor Williams commented on gene: OCRL: Associated with Dent disease 2 #300555 and Lowe syndrome #309000 in OMIM both with reported renal clinical features.

Many cases of association between variants in OCRL and these diseases reported in OMIM.
e.g. PMID: 10364518 (Satre et al 1999) reports on 8 famlies with Lowe Syndrome. Five of these eight pedigrees had a family history of at least two male patients carrying a clinical diagnosis of Lowe syndrome on the basis of the classic triad of defects affecting lens, brain and kidney. Seven new mutations and one recurrent mutation were identified in the OCRL1 gene in one carrier mother and in seven affected patients. They identified a germ-line mosaicism in one family.
Renal tubulopathies v1.82 NR3C2 Eleanor Williams commented on gene: NR3C2: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and
Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM.

The gene is also known as MCR.
Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM.
Renal tubulopathies v1.82 MAGED2 Eleanor Williams commented on gene: MAGED2: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM.

Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified.
Renal tubulopathies v1.82 KLHL3 Eleanor Williams commented on gene: KLHL3: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM.
Many reports of cases in OMIM. Both monoallelic and biallelic.
Early onset or syndromic epilepsy v1.260 KATNB1 Konstantinos Varvagiannis gene: KATNB1 was added
gene: KATNB1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly (MIM 616212)
Review for gene: KATNB1 was set to GREEN
Added comment: Biallelic pathogenic KATNB1 variants cause Lissencephaly 6, with microcephaly (MIM 616212). At least 13 affected individuals from 9 (mostly consanguineous) families have probably been reported in the following articles:

- Mishra-Gorur et al. (2014 - PMID: 25521378) [7 individuals from 5 unrelated families]
- Hu et al. (2014 - PMID: 25521379) [5 individuals from 3 families]
- Yigit el al. (2016 - PMID: 26640080) [1 subject born to consanguineous parents]

Seizures can be part of the phenotype (although not universal / reported in all 3 studies in several families). Several different variants have been reported to date. Extensive studies as for the impact of mutations at the cellular level as well as animal models (zebrafish, mouse, drosophila) support involvement of KATNB1. These arguments, provided mainly by the first two studies, are summarized in the respective OMIM entry for the disorder : https://omim.org/entry/616212 (variants and their effect are discussed in the entry for KATNB1 - https://omim.org/entry/602703).

The individual reported by Yigit el al. was a 5 year-old girl with - among others - severely delayed psychomotor development and seizures. The child was found to harbor a homozygous splice site variant (removing the acceptor AG signature). Confirmation of the variant and segregation studies were performed with Sanger sequencing. cDNA studies were carried out and demonstrated aberrant splicing.

KATNB1 is not associated with any disorder in G2P.
The gene is included in panels for ID offered by several diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in the current panel probably as green (or amber).
Sources: Literature
Intellectual disability v2.1021 KATNB1 Konstantinos Varvagiannis gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly (MIM 616212)
Penetrance for gene: KATNB1 were set to Complete
Review for gene: KATNB1 was set to GREEN
gene: KATNB1 was marked as current diagnostic
Added comment: Biallelic pathogenic KATNB1 variants cause Lissencephaly 6, with microcephaly (MIM 616212). At least 13 affected individuals from 9 (mostly consanguineous) families have probably been reported in the following articles:

- Mishra-Gorur et al. (2014 - PMID: 25521378) [7 individuals from 5 unrelated families]
- Hu et al. (2014 - PMID: 25521379) [5 individuals from 3 families]
- Yigit el al. (2016 - PMID: 26640080) [1 subject born to consanguineous parents]

The phenotype appears to be relevant to the current panel. Several different variants have been reported to date. Extensive studies as for the impact of mutations at the cellular level as well as animal models (zebrafish, mouse, drosophila) support involvement of KATNB1. These arguments, provided mainly by the first two studies, are summarized in the respective OMIM entry for the disorder : https://omim.org/entry/616212 (variants and their effect are discussed in the entry for KATNB1 - https://omim.org/entry/602703).

The individual reported by Yigit el al. was a 5 year-old girl with - among others - severely delayed psychomotor development. The child was found to harbor a homozygous splice site variant (removing the acceptor AG signature). Confirmation of the variant and segregation studies were performed with Sanger sequencing. cDNA studies were carried out and demonstrated aberrant splicing.

KATNB1 is not associated with any disorder in G2P.
The gene is included in panels for ID offered by several diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in the current panel probably as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.1021 MED13 Konstantinos Varvagiannis changed review comment from: Snijders Blok et al. (2018 - PMID: 29740699) report on 13 individuals with MED13 mutations.

Features included DD with speech difficulties (both universal) and motor delay in some. ID was observed in at least 9/13 and in most cases was in the borderline/mild range (moderate ID reported for 1 individual). Other features were ASD (5/13), ADHD, eye/vision abnormalities and in few individuals obstipation or congenital heart anomalies. Some possibly overlapping facial characteristics were also noted.

MED13 and MED13L are mutually exclusive components of the CDK8 kinase module that regulates the activity of the Mediator complex. The Mediator transmits signals from various transcription factors to RNA polymerase II (Pol II). Reversible binding of the CDK8 kinase controls Mediator - Pol II interaction (prevents Pol II recruitment) and thus acts as a molecular switch in Pol II - mediated transcription. DD and ID are features of the MED13L- and CDK8- related disorders.

3 stopgain, 2 frameshift, 6 missense variants and 1 in-frame deletion were reported. In 11 cases, the variants had occurred as de novo events, while 1 individual had inherited a nonsense variant from a similarly affected mother (unknown inheritance in her case).

Effect of a stopgain variant was studied with similar (total) transcript levels between the affected patient and his parents/controls upon qPCR. Sanger sequencing of cDNA amplicons was suggestive of the presence of an aberrant transcript at ~70% levels relative to the normal transcript. Truncated protein was undetectable by Western Blot in mononuclear blood cells from affected subjects. Total MED13 protein levels were not clearly different when comparing an affected individual with his unaffected parent (?).

Missense variants and the inframe deletion clustered either in the N- or the C-terminal domain, with the N-terminal ones all (T326I, T326del, P327S, P327Q / NM_005121.2 - NP_005112.2) affecting positions of a known phosphodegron sequence, important for the protein's ubiquitination and degradation. Another previously studied variant (T326A) had been shown to prevent degradation. As a result, the variants affecting aa 326-327 might lead to altered (increased) levels of MED13.

The remaining missense variants affected the C-terminal portion (Q2060L, A2064V).

As a result the impact of the different subcategories of variants remains unclear/inconclusive.

MED13 is not associated with any phenotype in OMIM. This gene is part of the DD panel of G2P, associated with "MED13 - Neurodevelopment disorder" (dis. confidence : probable / mutation consequence : LoF / GDD, speech/language delay, ID, autistic behavior among the assigned phenotypes).

MED13 is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

ID is part of the phenotype of MED13-related disorder, however as the severity in most individuals - when present - was in the borderline/mild range (not relevant for the present panel) and/or the underlying effect of mutations remains unclear, amber rating can probably be considered for this gene.
Sources: Radboud University Medical Center, Nijmegen, Literature; to: Snijders Blok et al. (2018 - PMID: 29740699) report on 13 individuals with MED13 mutations.

Features included DD with speech difficulties (both universal) and motor delay in some. ID was observed in at least 9/13 and in most cases was in the borderline/mild range (moderate ID reported for 1 individual). Other features were ASD (5/13), ADHD, eye/vision abnormalities and in few individuals obstipation or congenital heart anomalies. Some possibly overlapping facial characteristics were also noted.

MED13 and MED13L are mutually exclusive components of the CDK8 kinase module that regulates the activity of the Mediator complex. The Mediator transmits signals from various transcription factors to RNA polymerase II (Pol II). Reversible binding of the CDK8 kinase controls Mediator - Pol II interaction (prevents Pol II recruitment) and thus acts as a molecular switch in Pol II - mediated transcription. DD and ID are features of the MED13L- and CDK8- related disorders.

3 stopgain, 2 frameshift, 6 missense variants and 1 in-frame deletion were reported. In 11 cases, the variants had occurred as de novo events, while 1 individual had inherited a nonsense variant from a similarly affected mother (unknown inheritance in her case).

Effect of a stopgain variant was studied with similar (total) transcript levels between the affected patient and his parents/controls upon qPCR. Sanger sequencing of cDNA amplicons was suggestive of the presence of an aberrant transcript at ~70% levels relative to the normal transcript. Truncated protein was undetectable by Western Blot in mononuclear blood cells from affected subjects. Total MED13 protein levels were not clearly different when comparing an affected individual with his unaffected parent (?).

Missense variants and the inframe deletion clustered either in the N- or the C-terminal domain, with the N-terminal ones all (T326I, T326del, P327S, P327Q / NM_005121.2 - NP_005112.2) affecting positions of a known phosphodegron sequence, important for the protein's ubiquitination and degradation. Another previously studied variant (T326A) had been shown to prevent degradation. As a result, the variants affecting aa 326-327 might lead to altered (increased) levels of MED13.

The remaining missense variants affected the C-terminal portion (Q2060L, A2064V).

As a result the impact of the different subcategories of variants remains unclear/inconclusive.

MED13 is not associated with any phenotype in OMIM. This gene is part of the DD panel of G2P, associated with "MED13 - Neurodevelopment disorder" (dis. confidence : probable / mutation consequence : LoF / GDD, speech/language delay, ID, autistic behavior among the assigned phenotypes).

MED13 is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

ID is part of the phenotype of MED13-related disorder. However as the severity in most individuals - when present - was in the borderline/mild range (not relevant for the present panel) and/or the underlying effect of mutations remains unclear, amber rating seems more appropriate.
Sources: Radboud University Medical Center, Nijmegen, Literature
Intellectual disability v2.1021 MED13 Konstantinos Varvagiannis gene: MED13 was added
gene: MED13 was added to Intellectual disability. Sources: Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13 were set to 29740699
Phenotypes for gene: MED13 were set to Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Attention deficit hyperactivity disorder; Abnormality of the eye; Constipation
Penetrance for gene: MED13 were set to unknown
Review for gene: MED13 was set to AMBER
gene: MED13 was marked as current diagnostic
Added comment: Snijders Blok et al. (2018 - PMID: 29740699) report on 13 individuals with MED13 mutations.

Features included DD with speech difficulties (both universal) and motor delay in some. ID was observed in at least 9/13 and in most cases was in the borderline/mild range (moderate ID reported for 1 individual). Other features were ASD (5/13), ADHD, eye/vision abnormalities and in few individuals obstipation or congenital heart anomalies. Some possibly overlapping facial characteristics were also noted.

MED13 and MED13L are mutually exclusive components of the CDK8 kinase module that regulates the activity of the Mediator complex. The Mediator transmits signals from various transcription factors to RNA polymerase II (Pol II). Reversible binding of the CDK8 kinase controls Mediator - Pol II interaction (prevents Pol II recruitment) and thus acts as a molecular switch in Pol II - mediated transcription. DD and ID are features of the MED13L- and CDK8- related disorders.

3 stopgain, 2 frameshift, 6 missense variants and 1 in-frame deletion were reported. In 11 cases, the variants had occurred as de novo events, while 1 individual had inherited a nonsense variant from a similarly affected mother (unknown inheritance in her case).

Effect of a stopgain variant was studied with similar (total) transcript levels between the affected patient and his parents/controls upon qPCR. Sanger sequencing of cDNA amplicons was suggestive of the presence of an aberrant transcript at ~70% levels relative to the normal transcript. Truncated protein was undetectable by Western Blot in mononuclear blood cells from affected subjects. Total MED13 protein levels were not clearly different when comparing an affected individual with his unaffected parent (?).

Missense variants and the inframe deletion clustered either in the N- or the C-terminal domain, with the N-terminal ones all (T326I, T326del, P327S, P327Q / NM_005121.2 - NP_005112.2) affecting positions of a known phosphodegron sequence, important for the protein's ubiquitination and degradation. Another previously studied variant (T326A) had been shown to prevent degradation. As a result, the variants affecting aa 326-327 might lead to altered (increased) levels of MED13.

The remaining missense variants affected the C-terminal portion (Q2060L, A2064V).

As a result the impact of the different subcategories of variants remains unclear/inconclusive.

MED13 is not associated with any phenotype in OMIM. This gene is part of the DD panel of G2P, associated with "MED13 - Neurodevelopment disorder" (dis. confidence : probable / mutation consequence : LoF / GDD, speech/language delay, ID, autistic behavior among the assigned phenotypes).

MED13 is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

ID is part of the phenotype of MED13-related disorder, however as the severity in most individuals - when present - was in the borderline/mild range (not relevant for the present panel) and/or the underlying effect of mutations remains unclear, amber rating can probably be considered for this gene.
Sources: Radboud University Medical Center, Nijmegen, Literature
Early onset or syndromic epilepsy v1.260 PAK1 Konstantinos Varvagiannis edited their review of gene: PAK1: Added comment: Based on a further recent study, PAK1 can probably be upgraded to green in both ID and epilepsy gene panels:

Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.

(Previous review below); Changed rating: GREEN; Changed publications: 30290153, doi.org/10.1093/brain/awz264
Intellectual disability v2.1021 PAK1 Konstantinos Varvagiannis changed review comment from: Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.; to: Based on a further recent study, PAK1 can probably be upgraded to green in both ID and epilepsy gene panels:

Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.

(Previous review below)
Intellectual disability v2.1021 PAK1 Konstantinos Varvagiannis edited their review of gene: PAK1: Added comment: Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.; Changed rating: GREEN; Changed publications: 30290153, doi.org/10.1093/brain/awz264; Set current diagnostic: yes
Renal tubulopathies v1.82 KCNJ10 Eleanor Williams commented on gene: KCNJ10: Associated with SESAME syndrome #612780 in OMIM which includes a renal phenotype.

Many cases (> 3) reported in OMIM.
Renal tubulopathies v1.82 HNF1B Eleanor Williams commented on gene: HNF1B: Associated with Renal cysts and diabetes syndrome #137920 in OMIM.

Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome.
Renal tubulopathies v1.82 GNAS Eleanor Williams commented on gene: GNAS: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.
Renal tubulopathies v1.82 GNA11 Eleanor Williams commented on gene: GNA11: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature.The basis for this episode of transient diabetes insipidus remains unknown, and no other member of the extended family has ever manifested symptoms of diabetes insipidus.
Renal tubulopathies v1.82 GATM Eleanor Williams commented on gene: GATM: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.
Renal tubulopathies v1.82 FXYD2 Eleanor Williams commented on gene: FXYD2: Associated with Hypomagnesemia 2, renal #154020 in OMIM.


PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine.

PMID: 2576584 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect.

3 cases but likely linked by common ancestor as same variant found in all three.
Retinal disorders v1.161 OPN1MW Ivone Leong Classified gene: OPN1MW as Green List (high evidence)
Retinal disorders v1.161 OPN1MW Ivone Leong Added comment: Comment on list classification: Promoted to green based on expert review by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Retinal disorders v1.161 OPN1MW Ivone Leong Gene: opn1mw has been classified as Green List (High Evidence).
Retinal disorders v1.160 TYRP1 Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TYR Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC45A2 Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA3 Ivone Leong reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA1 Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OCA2 Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 NR2F1 Ivone Leong reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 LRMDA Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SEMA4A Ivone Leong reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 RGR Ivone Leong reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 CA4 Ivone Leong reviewed gene: CA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Ivone Leong reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.159 GNPTAB Simon Ramsden reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIRE Robert Henderson reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IKBKG Robert Henderson reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF513 Gavin Arno reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WT1 Gavin Arno reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WFS1 Gavin Arno reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WASF3 Gavin Arno reviewed gene: WASF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VSX2 Gavin Arno reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VAX1 Gavin Arno reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UNC119 Gavin Arno reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UBAP1L Gavin Arno reviewed gene: UBAP1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYRP1 Gavin Arno reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYR Gavin Arno reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC21B Gavin Arno reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TPP1 Gavin Arno reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM67 Gavin Arno reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM216 Gavin Arno reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM126A Gavin Arno reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMM8A Gavin Arno reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEX28 Gavin Arno reviewed gene: TEX28: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEAD1 Gavin Arno reviewed gene: TEAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN3 Gavin Arno reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN2 Gavin Arno reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN1 Gavin Arno reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 STRA6 Gavin Arno reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPG7 Gavin Arno reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SOX2 Gavin Arno reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SMOC1 Gavin Arno reviewed gene: SMOC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC7A14 Gavin Arno reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC45A2 Gavin Arno reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC37A3 Gavin Arno reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A5 Gavin Arno reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ROM1 Gavin Arno reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RIMS1 Gavin Arno reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9BP Gavin Arno reviewed gene: RGS9BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RB1 Gavin Arno reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRTFDC1 Gavin Arno reviewed gene: PRTFDC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PPT1 Gavin Arno reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POMZP3 Gavin Arno reviewed gene: POMZP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PODNL1 Gavin Arno reviewed gene: PODNL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLD4 Gavin Arno reviewed gene: PLD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX3 Gavin Arno reviewed gene: PITX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX2 Gavin Arno reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITPNM3 Gavin Arno reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDZD7 Gavin Arno reviewed gene: PDZD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6H Gavin Arno reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDAP1 Gavin Arno reviewed gene: PDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Gavin Arno reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 P3H2 Gavin Arno reviewed gene: P3H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OR2M7 Gavin Arno reviewed gene: OR2M7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1MW Gavin Arno reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1LW Gavin Arno reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA3 Gavin Arno reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA1 Gavin Arno reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OCA2 Gavin Arno reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NUMB Gavin Arno reviewed gene: NUMB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2F1 Gavin Arno reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NEK2 Gavin Arno reviewed gene: NEK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NAALADL1 Gavin Arno reviewed gene: NAALADL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYOC Gavin Arno reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MVK Gavin Arno reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MTTP Gavin Arno reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-TL1 Gavin Arno reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND6 Gavin Arno reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND4 Gavin Arno reviewed gene: MT-ND4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND1 Gavin Arno reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ATP6 Gavin Arno reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFN2 Gavin Arno reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRMDA Gavin Arno reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIZ Gavin Arno reviewed gene: KIZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF7 Gavin Arno reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCTD7 Gavin Arno reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITM2B Gavin Arno reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITIH2 Gavin Arno reviewed gene: ITIH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IRX5 Gavin Arno reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INVS Gavin Arno reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HTRA1 Gavin Arno reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMCN1 Gavin Arno reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HCCS Gavin Arno reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRN Gavin Arno reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRIP1 Gavin Arno reviewed gene: GRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GP1BA Gavin Arno reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GDF6 Gavin Arno reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FUT5 Gavin Arno reviewed gene: FUT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FSCN2 Gavin Arno reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM2 Gavin Arno reviewed gene: FREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM1 Gavin Arno reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FRAS1 Gavin Arno reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXI2 Gavin Arno reviewed gene: FOXI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXE3 Gavin Arno reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXC1 Gavin Arno reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FBLN5 Gavin Arno reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM71A Gavin Arno reviewed gene: FAM71A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM57B Gavin Arno reviewed gene: FAM57B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EMC1 Gavin Arno reviewed gene: EMC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DTHD1 Gavin Arno reviewed gene: DTHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHX38 Gavin Arno reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP27A1 Gavin Arno reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP1B1 Gavin Arno reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CUBN Gavin Arno reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTSD Gavin Arno reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CROCC Gavin Arno reviewed gene: CROCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A2 Gavin Arno reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A1 Gavin Arno reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL2A1 Gavin Arno reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL18A1 Gavin Arno reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A2 Gavin Arno reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A1 Gavin Arno reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN8 Gavin Arno reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN6 Gavin Arno reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN5 Gavin Arno reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFB Gavin Arno reviewed gene: CFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP41 Gavin Arno reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CCZ1B Gavin Arno reviewed gene: CCZ1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C5orf42 Gavin Arno reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C3 Gavin Arno reviewed gene: C3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2 Gavin Arno reviewed gene: C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BMP4 Gavin Arno reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BCOR Gavin Arno reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBIP1 Gavin Arno reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 B3GLCT Gavin Arno reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATP13A2 Gavin Arno reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARMS2 Gavin Arno reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL13B Gavin Arno reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AMN Gavin Arno reviewed gene: AMN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRA3 Gavin Arno reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACBD5 Gavin Arno reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: