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Possible mitochondrial disorder, nuclear genes v0.71 UQCC3 Ellen McDonagh Gene: uqcc3 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.147 UQCC2 Ellen McDonagh Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 7, MIM#615824
Mitochondrial disorders v1.146 UQCC2 Ellen McDonagh Publications for gene: UQCC2 were set to
Mitochondrial disorders v1.145 UQCC2 Ellen McDonagh Mode of inheritance for gene: UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Amber List (moderate evidence)
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two reports.
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.70 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.70 UQCC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.143) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.70 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.69 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v0.69 PARS2 Ellen McDonagh Added comment: Comment on list classification: More than 3 unrelated families reported.
Possible mitochondrial disorder, nuclear genes v0.69 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to more than 3 unrelated families reported.
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.142 PARS2 Ellen McDonagh Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SMCHD1 Elizabeth Harris reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Possible mitochondrial disorder, nuclear genes v0.68 NSUN3 Ellen McDonagh Classified gene: NSUN3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.68 NSUN3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.68 NSUN3 Ellen McDonagh Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.67 NFS1 Ellen McDonagh Classified gene: NFS1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.67 NFS1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.67 NFS1 Ellen McDonagh Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.66 NDUFV3 Ellen McDonagh Classified gene: NDUFV3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.66 NDUFV3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.66 NDUFV3 Ellen McDonagh Gene: ndufv3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.65 NDUFS5 Ellen McDonagh Classified gene: NDUFS5 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.65 NDUFS5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.65 NDUFS5 Ellen McDonagh Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.64 NDUFC2 Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.64 NDUFC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.64 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.63 NDUFC1 Ellen McDonagh Classified gene: NDUFC1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.63 NDUFC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.63 NDUFC1 Ellen McDonagh Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.62 NDUFB9 Ellen McDonagh Classified gene: NDUFB9 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.62 NDUFB9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently RAmber on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.62 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.61 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.61 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.61 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.61 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.61 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.61 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.60 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.60 NDUFB7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.60 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.59 NDUFB6 Ellen McDonagh Classified gene: NDUFB6 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.59 NDUFB6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.59 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.58 NDUFB5 Ellen McDonagh Classified gene: NDUFB5 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.58 NDUFB5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.58 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.57 NDUFB4 Ellen McDonagh Classified gene: NDUFB4 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.57 NDUFB4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.57 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.56 NDUFB2 Ellen McDonagh Classified gene: NDUFB2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.56 NDUFB2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.56 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.55 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.55 NDUFB10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.55 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.54 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.54 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.54 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.53 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.53 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.53 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.52 NDUFAF7 Ellen McDonagh Classified gene: NDUFAF7 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.52 NDUFAF7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.52 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.51 NDUFAB1 Ellen McDonagh Classified gene: NDUFAB1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.51 NDUFAB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.51 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.50 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.50 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.50 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMK Elizabeth Harris reviewed gene: POMK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 24925318; Phenotypes: limb girdle musuclar dystorphy, congenital muscular dystrophy; Mode of inheritance: None
Possible mitochondrial disorder, nuclear genes v0.49 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.49 NDUFA8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.49 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.48 NDUFA7 Ellen McDonagh Classified gene: NDUFA7 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.48 NDUFA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.48 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.47 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.47 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.47 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.46 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.46 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.46 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.45 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.45 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.45 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.44 NDUFA3 Ellen McDonagh Classified gene: NDUFA3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.44 NDUFA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.44 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.43 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.43 NDUFA13 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.43 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.42 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.42 NDUFA12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.42 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMGNT2 Elizabeth Harris reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27066570; Phenotypes: limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.41 MRPS7 Ellen McDonagh Classified gene: MRPS7 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.41 MRPS7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.41 MRPS7 Ellen McDonagh Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.40 MRPS23 Ellen McDonagh Classified gene: MRPS23 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.40 MRPS23 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.40 MRPS23 Ellen McDonagh Gene: mrps23 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.39 MRPS2 Ellen McDonagh Classified gene: MRPS2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.39 MRPS2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.39 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.38 MRPS16 Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.38 MRPS16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.38 MRPS16 Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 LIMS2 Elizabeth Harris reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.141 MRPS16 Ellen McDonagh Publications for gene: MRPS16 were set to
Mitochondrial disorders v1.140 MRPS16 Ellen McDonagh Mode of inheritance for gene: MRPS16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Added comment: Comment on list classification: Additional case reported - promoted from Red to Amber.
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 ISPD Elizabeth Harris reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.37 MRPS14 Ellen McDonagh Classified gene: MRPS14 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.37 MRPS14 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.37 MRPS14 Ellen McDonagh Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.52 MRPL44 Ellen McDonagh Publications for gene: MRPL44 were set to
Likely inborn error of metabolism v1.51 MRPL44 Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.50 MRPL44 Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence)
Likely inborn error of metabolism v1.50 MRPL44 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green on the Mitochondrial disorders (Version 1.138) gene panel due to to reports in 3 unrelated cases/families, therefore promoting this gene in this panel to reflect this change in rating. See publications for evidence.
Likely inborn error of metabolism v1.50 MRPL44 Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.138 MRPL44 Ellen McDonagh Publications for gene: MRPL44 were set to
Mitochondrial disorders v1.137 MRPL44 Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence)
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to reports in 3 unrelated cases/families.
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence).
Possible mitochondrial disorder, nuclear genes v0.36 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.36 MRPL3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.135) due to two family reports - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.36 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Amber List (moderate evidence)
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two family reports.
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.134 MRPL3 Ellen McDonagh Mode of inheritance for gene: MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.133 MRPL3 Ellen McDonagh Publications for gene: MRPL3 were set to
Possible mitochondrial disorder, nuclear genes v0.35 MRPL12 Ellen McDonagh Classified gene: MRPL12 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.35 MRPL12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.35 MRPL12 Ellen McDonagh Gene: mrpl12 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.34 ATPAF1 Ellen McDonagh Classified gene: ATPAF1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.34 ATPAF1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.34 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.33 ATP5L2 Ellen McDonagh Classified gene: ATP5L2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.33 ATP5L2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.33 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.32 ATP5L Ellen McDonagh Classified gene: ATP5L as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.32 ATP5L Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.32 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.31 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.31 ATP5J2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.31 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.30 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.30 ATP5J Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.30 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.29 ATP5I Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.29 ATP5I Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.29 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.28 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.28 ATP5O Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.28 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.27 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.27 ATP5G3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.27 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.26 ATP5G2 Ellen McDonagh Classified gene: ATP5G2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.26 ATP5G2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.26 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.25 ATP5G1 Ellen McDonagh Classified gene: ATP5G1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.25 ATP5G1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.25 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.24 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.24 ATP5E Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.24 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.23 ATP5H Ellen McDonagh Classified gene: ATP5H as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.23 ATP5H Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.23 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.22 ATP5F1 Ellen McDonagh Classified gene: ATP5F1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.22 ATP5F1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.22 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.21 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.21 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.21 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.20 ATP5C1 Ellen McDonagh Classified gene: ATP5C1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.20 ATP5C1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.20 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.19 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.19 ATP5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.19 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.18 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.18 ATP5A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.18 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 BVES Elizabeth Harris commented on gene: BVES: initially given and LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Classified gene: ATPAF1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 HNRNPDL Elizabeth Harris commented on gene: HNRNPDL: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Classified gene: ATP5L2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Classified gene: ATP5L as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Classified gene: ATP5H as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Currently only recurrent HMERF associated mutations are reported by this lab but truncating variants are also of great clinical interest. Difficulty classifying variants in titin should not be a reason not to include this gene as additional phenotyping studies such as muscle MRI, biopsy review and protein analysis is often extremely helpful in confirming or refuting the diagnosis.
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Classified gene: ATP5G2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Classified gene: ATP5G1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Classified gene: ATP5F1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panel
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris commented on gene: DES: Clinical overlap with LGMDS and myofibrillar myopathies justifies inclusion of this gene in this list
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Classified gene: ATP5C1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DAG1 Elizabeth Harris commented on gene: DAG1: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DAG1 Elizabeth Harris reviewed gene: DAG1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 14678799, PMID: 21388311; Phenotypes: Limb girdle muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 BVES Elizabeth Harris reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 PTEN Louise Daugherty Added comment: Comment on publications: publication added to support upgrading gene- suggested by Sophie Hambleton in the GMS Immunological Specialist Test Group webex call 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 PTEN Louise Daugherty Publications for gene: PTEN were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris commented on gene: DES: Phenotypic overlap warrants inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: phenotypic overlap with LGMDs warrants inclusion in this panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.31 HPS1 Louise Daugherty Publications for gene: HPS1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.30 CFB Louise Daugherty Phenotypes for gene: CFB were changed from Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome (4; AD); complement factor B deficiency (AR) to Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome 4 (AD); complement factor B deficiency (AR)
Mitochondrial disorder with complex IV deficiency v0.30 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.30 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Classified gene: COX8A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Classified gene: COX7C as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Classified gene: COX7A1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Classified gene: COX6C as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Classified gene: COX6B2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Classified gene: COX5B as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Classified gene: COX4I2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Classified gene: COX4I1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Classified gene: COX19 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Classified gene: COX17 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Classified gene: COX11 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Classified gene: COA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Classified gene: COA6 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Gene: coa6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Classified gene: COA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Classified gene: COA4 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Classified gene: COA3 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Classified gene: COA1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.35 TIMMDC1 Ellen McDonagh Marked gene: TIMMDC1 as ready
Mitochondrial disorder with complex I deficiency v0.35 TIMMDC1 Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.35 NDUFV3 Ellen McDonagh Classified gene: NDUFV3 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.35 NDUFV3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.35 NDUFV3 Ellen McDonagh Gene: ndufv3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.34 NDUFS5 Ellen McDonagh Classified gene: NDUFS5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.34 NDUFS5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.34 NDUFS5 Ellen McDonagh Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.33 NDUFC2 Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.33 NDUFC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.33 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.32 NDUFC1 Ellen McDonagh Classified gene: NDUFC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.32 NDUFC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.32 NDUFC1 Ellen McDonagh Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.31 NDUFB9 Ellen McDonagh Classified gene: NDUFB9 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.31 NDUFB9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.31 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.132 NDUFB9 Ellen McDonagh Added comment: Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Mitochondrial disorders v1.132 NDUFB9 Ellen McDonagh Publications for gene: NDUFB9 were set to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Mitochondrial disorder with complex I deficiency v0.30 NDUFB9 Ellen McDonagh Added comment: Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Mitochondrial disorder with complex I deficiency v0.30 NDUFB9 Ellen McDonagh Publications for gene: NDUFB9 were set to
Mitochondrial disorder with complex I deficiency v0.29 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.29 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.29 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.28 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.28 NDUFB7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.28 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.27 NDUFB6 Ellen McDonagh Classified gene: NDUFB6 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.27 NDUFB6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.27 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.26 NDUFB5 Ellen McDonagh Classified gene: NDUFB5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.26 NDUFB5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.26 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.25 NDUFB4 Ellen McDonagh Classified gene: NDUFB4 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.25 NDUFB4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.25 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.24 NDUFB2 Ellen McDonagh Classified gene: NDUFB2 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.24 NDUFB2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.24 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.21 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.21 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.131) and is not in OMIM associated with a disease - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.21 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.20 NDUFAF7 Ellen McDonagh Classified gene: NDUFAF7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.20 NDUFAF7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently not on the Mitochondrial disorders panel (code 112, Version 1.131) and is not associated with a disease in OMIM - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.20 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.19 NDUFAB1 Ellen McDonagh Classified gene: NDUFAB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.19 NDUFAB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.19 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.18 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.18 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.18 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.131 NDUFA9 Ellen McDonagh Phenotypes for gene: NDUFA9 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 to Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000
Mitochondrial disorders v1.130 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Mitochondrial disorders v1.129 NDUFA9 Ellen McDonagh Mode of inheritance for gene: NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber due to additional reports for 2 cases (see publications).
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.17 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.15 NDUFA7 Ellen McDonagh Classified gene: NDUFA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.15 NDUFA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.15 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.14 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.14 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.14 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.12 NDUFA3 Ellen McDonagh Classified gene: NDUFA3 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.12 NDUFA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.12 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.789 RNF135 Louise Daugherty Publications for gene: RNF135 were set to
Intellectual disability v2.788 RNF135 Louise Daugherty Classified gene: RNF135 as Red List (low evidence)
Intellectual disability v2.788 RNF135 Louise Daugherty Added comment: Comment on list classification: Downgraded gene from Amber to Red due to external review highlighting new publication Wright et al. (2019 - PMID: 30665703) that refutes any evidence for developmental disorders (which includes ID)
Intellectual disability v2.788 RNF135 Louise Daugherty Gene: rnf135 has been classified as Red List (Low Evidence).
Adult solid tumours cancer susceptibility v1.2 PDGFRA Ellen McDonagh commented on gene: PDGFRA
Adult solid tumours cancer susceptibility v1.2 EXT2 Ellen McDonagh commented on gene: EXT2
Adult solid tumours cancer susceptibility v1.2 EXT1 Ellen McDonagh commented on gene: EXT1
Adult solid tumours cancer susceptibility v1.2 AIP Ellen McDonagh commented on gene: AIP
Neuronal ceroid lipofuscinosis v0.4 CTSF Sarah Leigh Publications for gene: CTSF were set to
Adult solid tumours cancer susceptibility v1.2 PDGFRA Ellen McDonagh gene: PDGFRA was added
gene: PDGFRA was added to Adult solid tumours cancer susceptibility. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor
Adult solid tumours cancer susceptibility v1.2 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Adult solid tumours cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT2 were set to 27636706; 29529714; 23770606; 7726168
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Adult solid tumours cancer susceptibility v1.2 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Adult solid tumours cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT1 were set to 29529714; 10441575; 23770606
Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300
Adult solid tumours cancer susceptibility v1.2 AIP Ellen McDonagh gene: AIP was added
gene: AIP was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AIP were set to 17360484
Phenotypes for gene: AIP were set to Pituitary adenoma 1, multiple types 102200
Sarcoma cancer susceptibility v1.7 Ellen McDonagh Panel name changed from Sarcoma pertinent cancer susceptibility to Sarcoma cancer susceptibility
List of related panels changed from Sarcoma to Sarcoma;Sarcoma pertinent cancer susceptibility
Haematological malignancies cancer susceptibility v1.3 Ellen McDonagh Panel name changed from Haematological malignancies pertinent cancer susceptibility to Haematological malignancies cancer susceptibility
List of related panels changed from Haemonc to Haemonc;Haematological malignancies pertinent cancer susceptibility
Adult solid tumours cancer susceptibility v1.1 Ellen McDonagh Panel name changed from Adult solid tumours pertinent cancer susceptibility to Adult solid tumours cancer susceptibility
List of related panels changed from Carcinoma of unknown primary; Other to Carcinoma of unknown primary; Other; Adult solid tumours pertinent cancer susceptibility
Undiagnosed metabolic disorders v1.96 ATP13A2 Sarah Leigh Publications for gene: ATP13A2 were set to 27604308; 16964263; 27217339
Cystic kidney disease v1.44 WDR19 Eleanor Williams Phenotypes for gene: WDR19 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 13, Senior-Loken
Cystic kidney disease v1.43 WDR19 Eleanor Williams Publications for gene: WDR19 were set to
Cystic kidney disease v1.42 WDR19 Eleanor Williams Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 MAPKBP1 Anna de Burca reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251; Phenotypes: NEPHRONOPHTHISIS 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 CEP83 Anna de Burca reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v1.41 CEP83 Eleanor Williams Classified gene: CEP83 as Green List (high evidence)
Cystic kidney disease v1.41 CEP83 Eleanor Williams Added comment: Comment on list classification: Sufficient cases
Cystic kidney disease v1.41 CEP83 Eleanor Williams Gene: cep83 has been classified as Green List (High Evidence).
Cystic kidney disease v1.40 MAPKBP1 Eleanor Williams Classified gene: MAPKBP1 as Green List (high evidence)
Cystic kidney disease v1.40 MAPKBP1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases
Cystic kidney disease v1.40 MAPKBP1 Eleanor Williams Gene: mapkbp1 has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v0.11 WDR19 Anna de Burca reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v1.39 WDR19 Anna de Burca Classified gene: WDR19 as Green List (high evidence)
Cystic kidney disease v1.39 WDR19 Anna de Burca Added comment: Comment on list classification: Promoted to green following further discussion with Ellen Thomas. Although this gene is associated with a syndromic presentation, it is appropriate for inclusion in this panel due to the renal element of the phenotype.
Cystic kidney disease v1.39 WDR19 Anna de Burca Gene: wdr19 has been classified as Green List (High Evidence).
Cystic kidney disease v1.38 MAPKBP1 Anna de Burca gene: MAPKBP1 was added
gene: MAPKBP1 was added to Cystic kidney disease. Sources: Expert list
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to NEPHRONOPHTHISIS 20
Review for gene: MAPKBP1 was set to GREEN
Added comment: PMID:28089251 reports seven variants present in biallelic form in 8 individuals from 5 families. All individuals had nephronophthisis with progression to ESRF in teens to 20s in 5/8 cases.
Sources: Expert list
Cystic kidney disease v1.37 CEP83 Anna de Burca gene: CEP83 was added
gene: CEP83 was added to Cystic kidney disease. Sources: Expert list
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to NEPHRONOPHTHISIS 18
Review for gene: CEP83 was set to GREEN
Added comment: PMID: 24882706 reports ten variants found in biallelic form in seven families. All but one of the probands had nephronophthisis progressing to end stage renal failure; some of the affected individuals had additional features including intellectual disability and hydrocephalus.
Sources: Expert list
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFHR2 Anna de Burca reviewed gene: CFHR2: 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: None
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFHR1 Anna de Burca reviewed gene: CFHR1: 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: None
Proteinuric renal disease v1.50 CRB2 Eleanor Williams Phenotypes for gene: CRB2 were changed from steroid resistant nephrotic syndrome to steroid resistant nephrotic syndrome; Focal segmental glomerulosclerosis 9 #616220; Ventriculomegaly with cystic kidney disease #219730
Proteinuric renal disease v1.49 CRB2 Eleanor Williams Publications for gene: CRB2 were set to 25557779; 27942854
Proteinuric renal disease v1.48 CRB2 Eleanor Williams Classified gene: CRB2 as Green List (high evidence)
Proteinuric renal disease v1.48 CRB2 Eleanor Williams Added comment: Comment on list classification: > 3 unrelated cases with plausible disease causing variants in this gene.
Proteinuric renal disease v1.48 CRB2 Eleanor Williams Gene: crb2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.47 CRB2 Eleanor Williams edited their review of gene: CRB2: Added comment: Associated with Focal segmental glomerulosclerosis 9 (616220) and Ventriculomegaly with cystic kidney disease (219730) in OMIM.

PMID: 25557779 - Ebarasi et al 2015 - recessive CRB2 variants were detected in 4 unrelated families (2 from Turkey, 2 from Europe). 3 families had parental consanguinity and were homozygous for the variants. In the other family compound heterozgyous variants in CRB2 were detected. Mutations in the first 2 families were found by homozygosity mapping and/or whole-exome sequencing; mutations in the second 2 families were found by sequencing the CRB2 gene in 1,010 families with steroid-resistant nephrotic syndrome. 3 of the mutations occurred at highly conserved residues in the tenth EGF-like domain; and functional studies showed that in crb2-null zebrafish 2 of these mutations resulted in loss of protein function.

PMID: 27942854 - Udagawa et al 2017 - Whole exome sequencing was performed in a 3-year-old girl with SRNS and identified novel compound heterozygous mutations in exons 10 and 12 of CRB2 (p.Trp1086ArgfsX64 and p.Asn1184Thr). Renal pathology showed focal segmental glomerulosclerosis with effaced podocyte foot processes in a small area, with significantly decreased Crb2 expression

PMID: 29473663 - Watanabe et al 2018 - report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp).; Changed publications: PMID: 25557779, PMID: 29473663; Changed phenotypes: Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730
Proteinuric renal disease v1.47 COQ8B Eleanor Williams Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 #615573
Proteinuric renal disease v1.46 COQ8B Eleanor Williams Publications for gene: COQ8B were set to
Proteinuric renal disease v1.45 COQ8B Eleanor Williams Mode of inheritance for gene: COQ8B was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.44 COQ8B Eleanor Williams Classified gene: COQ8B as Green List (high evidence)
Proteinuric renal disease v1.44 COQ8B Eleanor Williams Added comment: Comment on list classification: >3 families with plausible disease causing variants in COQ8B.
Proteinuric renal disease v1.44 COQ8B Eleanor Williams Gene: coq8b has been classified as Green List (High Evidence).
Proteinuric renal disease v1.43 COQ8B Eleanor Williams commented on gene: COQ8B: Associated with Nephrotic syndrome, type 9 615573 in OMIM. Previous symbol: ADCK4.

PMID: 24270420 - Ashraf et al 2013 - using a combination of homozygosity mapping and whole human exome resequencing, identified variants in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. Several different variants. Functional data supports the role of this gene's involvement in nephrotic syndrome-associated phenotypes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7.
Hereditary spastic paraplegia v1.196 EIF2B5 Chris Buxton gene: EIF2B5 was added
gene: EIF2B5 was added to Hereditary spastic paraplegia. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to See OMIM https://www.omim.org/entry/603896
Phenotypes for gene: EIF2B5 were set to progressive cerebellar ataxia; spasticity; cognitive impairment
Penetrance for gene: EIF2B5 were set to unknown
Mode of pathogenicity for gene: EIF2B5 was set to Other
Review for gene: EIF2B5 was set to AMBER
gene: EIF2B5 was marked as current diagnostic
Added comment: Curerntly diagnostic on Sheffield's HSP panel.
Vanishing white matter leukodystrophy: Phenotype could be theoretically interpreted as HSP in an infant? so maybe only consider for Child onset HSP panel.
HGMD mostly lists missense variants
Sources: Expert list
Intellectual disability v2.787 CDK8 Konstantinos Varvagiannis Deleted their comment
Intellectual disability v2.787 CDK8 Konstantinos Varvagiannis commented on gene: CDK8: Calpena et al. (2019 - PMID: 30905399 - DDD study among the co-authors) report on 12 unrelated individuals with pathogenic CDK8 missense variants.

Common features included hypotonia and DD (universal feature). Older children displayed variable degrees of ID (2 mild, 5 moderate, 2 moderate-severe). Other features included feeding difficulties, behavioral disorders, CHD, epilepsy (2 individuals), impaired vision and hearing problems in few.

CDK8 (alternatively CDK19) serves a one of the four subunits of a kinase module that reversibly binds to the mediator complex to regulate its activity (in turn, regulation of transcription). Mutations in other genes coding for the 3 other subunits of the kinase module (eg. MED12 or MED13L) lead to syndromic neurodevelopmental disorders.

8 missense CDK8 variants were reported in total. Ser62Leu (NM_001260.2:c.185C>T) was recurrent, observed in 5 subjects. The variants had occurred as de novo events in all cases (10 individuals) where parental samples were available.

All variants clustered in the kinase domain (residues 21-335 - of 464 total) around the ATP binding pocket. A thermal stability assay did not reveal gross protein instability in the presence or absence of ATP while the ability to bind ATP was retained for most/all variants. Study of STAT1 phosphorylation was suggestive of attenuated kinase activity for all variants, though to a lesser degree for 2 of them. Given the type of variants (all missense) and the pLI of 0.38 haploinsufficiency appears to be unlikely. A dominant-negative mechanism is favoured.

CDK8 is not associated with any phenotype in G2P.

As a result, CDK8 can be considered for upgrade to green or amber (if the degree of ID is relevant for the current panel).
Intellectual disability v2.787 CDK8 Konstantinos Varvagiannis reviewed gene: CDK8: 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: 30905399; Phenotypes: Generalized hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Behavioral abnormality, Abnormality of cardiovascular system morphology, Hearing impairment, Abnormality of vision, Anorectal anomaly, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal tubulopathies v1.21 EHHADH Anna de Burca Classified gene: EHHADH as Amber List (moderate evidence)
Renal tubulopathies v1.21 EHHADH Anna de Burca Added comment: Comment on list classification: Single family reported with additional functional data. Gene demoted to amber pending further evidence for re-evaluation.
Renal tubulopathies v1.21 EHHADH Anna de Burca Gene: ehhadh has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Classified gene: MUC1 as Green List (high evidence)
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Added comment: Comment on list classification: Rated as green due to numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein. Note: variants within VNTR are unlikely to be detected by NGS.
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Gene: muc1 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.43 PODXL Eleanor Williams Phenotypes for gene: PODXL were changed from to Congenital nephrotic syndrome
Proteinuric renal disease v1.42 PODXL Eleanor Williams Publications for gene: PODXL were set to
Proteinuric renal disease v1.41 PODXL Eleanor Williams Mode of inheritance for gene: PODXL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.40 PODXL Eleanor Williams Classified gene: PODXL as Green List (high evidence)
Proteinuric renal disease v1.40 PODXL Eleanor Williams Added comment: Comment on list classification: 2 cases with functional evidence that the variants may cause disease.
Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function.

A further case with a patient with compound heterozygous variants in PDXL and congenital nephrotic syndrome.
Proteinuric renal disease v1.40 PODXL Eleanor Williams Gene: podxl has been classified as Green List (High Evidence).
Proteinuric renal disease v1.39 PODXL Eleanor Williams edited their review of gene: PODXL: Added comment: PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.; Changed publications: PMID: 30523047, PMID: 29244787; Changed phenotypes: Congenital nephrotic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Loss of function variants are simpler to classify but missense variants are also reported as pathogenic. The analysis of titin variants is more complex than this proforma allows for
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11073539, PMID: 19433360, PMID: 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 HNRNPDL Elizabeth Harris reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24647604, PMID: 15367920; Phenotypes: Limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.39 NUP107 Eleanor Williams Phenotypes for gene: NUP107 were changed from to Nephrotic syndrome, type 11 #616730
Proteinuric renal disease v1.38 NUP107 Eleanor Williams Publications for gene: NUP107 were set to
Proteinuric renal disease v1.37 NUP107 Eleanor Williams Mode of inheritance for gene: NUP107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.36 NUP107 Eleanor Williams Classified gene: NUP107 as Green List (high evidence)
Proteinuric renal disease v1.36 NUP107 Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene.
Proteinuric renal disease v1.36 NUP107 Eleanor Williams Gene: nup107 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 GNE Elizabeth Harris reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22883483, PMID: 24695763; Phenotypes: Distal myopathy, Limg girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.35 NUP107 Eleanor Williams commented on gene: NUP107: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although it is clearly rare with no variants found in >600 cases in Bristol, it is appropriate for inclusion in the panel.
Proteinuric renal disease v1.35 NUP107 Eleanor Williams edited their review of gene: NUP107: Added comment: Associated with Galloway-Mowat syndrome 7 (618348) and Nephrotic syndrome, type 11 (616730) in OMIM.

PMID: 26411495 - Miyake et al 2015 - biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). All individuals were compound heterozgyous, and all had a c.2492A>C (p.Asp831Ala) variant in common. This variant, c.2492A>C, was observed at a frequency of 0.0013587 only in HGVD, but not in the EVS, ExAC Browser, or in-house Japanese exome database. Three other variants were found in addition - c.469G>T (p.Asp157Tyr),c.969+1G>A (splice site) and c.1079_1083delAAGAG (p.Glu360Glyfs∗6).

PMID: 30179222 - Braun et al 2018 - homozgyous or compound heterozygous variants found in 7 families with SRNS.. The same homozygous missense mutation (c.303G>A, p.Met101Ile) in NUP107 was detected 5 consanguineous families with SRNS and represents a South Asian founder allele. They also detected a homozygous missense mutation of NUP107 (c.2666A>G, p.Tyr889Cys) in family A3825 and 2 compound heterozygous alleles (c.1021dup, p.Glu341Glyfs*3, and c.2129_2131delAAG, p.Glu710del) of NUP107 in family A1830.; Changed publications: PMID: 26411495, PMID 30179222
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17761684, PMID: 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25772186, PMID: 26392295, PMID: 26581302, PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris Deleted their review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed publications: PMID: 28716623, PMID: 26381502, PMID: 25772186; Changed phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy, distal myopathy
Childhood solid tumours cancer susceptibility v1.2 Ellen McDonagh Panel name changed from Childhood solid tumours pertinent cancer susceptibility to Childhood solid tumours cancer susceptibility
List of related panels changed from Childhood to Childhood;Childhood solid tumours pertinent cancer susceptibility
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: 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: PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood solid tumours cancer susceptibility v1.1 TRIP13 Ellen McDonagh gene: TRIP13 was added
gene: TRIP13 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3 617598
Childhood solid tumours cancer susceptibility v1.1 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism 253250
Childhood solid tumours cancer susceptibility v1.1 SQSTM1 Ellen McDonagh gene: SQSTM1 was added
gene: SQSTM1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SQSTM1 were set to Paget disease of bone 3 167250; Osteosarcoma
Childhood solid tumours cancer susceptibility v1.1 SLX4 Ellen McDonagh gene: SLX4 was added
gene: SLX4 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, 613951
Childhood solid tumours cancer susceptibility v1.1 REST Ellen McDonagh gene: REST was added
gene: REST was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to} 616806
Childhood solid tumours cancer susceptibility v1.1 PDGFRA Ellen McDonagh gene: PDGFRA was added
gene: PDGFRA was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDGFRA were set to Familial GIST; Gastrointestinal stromal tumor, somatic 606764
Childhood solid tumours cancer susceptibility v1.1 NSD1 Ellen McDonagh gene: NSD1 was added
gene: NSD1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome 1, 117550
Childhood solid tumours cancer susceptibility v1.1 HRAS Ellen McDonagh Source Expert Review Amber was added to HRAS.
Added phenotypes Costello syndrome for gene: HRAS
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Childhood solid tumours cancer susceptibility v1.1 GPC3 Ellen McDonagh gene: GPC3 was added
gene: GPC3 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Wilms tumor, somatic, 194070; Simpson-Golabi-Behmel syndrome, type 1, 312870
Childhood solid tumours cancer susceptibility v1.1 FANCB Ellen McDonagh gene: FANCB was added
gene: FANCB was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514
Childhood solid tumours cancer susceptibility v1.1 EZH2 Ellen McDonagh gene: EZH2 was added
gene: EZH2 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to Weaver syndrome, 277590
Childhood solid tumours cancer susceptibility v1.1 DIS3L2 Ellen McDonagh gene: DIS3L2 was added
gene: DIS3L2 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000
Childhood solid tumours cancer susceptibility v1.1 BUB1B Ellen McDonagh gene: BUB1B was added
gene: BUB1B was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1 257300
Proteinuric renal disease v1.35 DHFR Eleanor Williams edited their review of gene: DHFR: Added comment: After checking with Elizabeth Watson, it was concluded that this gene was rating initially green in error. There is no evidence to support its inclusion on this panel.; Changed rating: RED
Proteinuric renal disease v1.35 ARHGDIA Eleanor Williams commented on gene: ARHGDIA: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although it is clearly rare with no variants found in >600 cases in Bristol, it is appropriate for inclusion in the panel.
Intellectual disability v2.787 ARHGEF6 Richard Scott commented on gene: ARHGEF6: Literature review identifies lack of clarity about published data on this gene. As per note in OMIM entry:

ARHGEF6, IVS1AS, T-C, -11 (rs140322310)
RCV000012185
This variant, formerly titled MENTAL RETARDATION, X-LINKED 46, has been reclassified based on a review of the ExAC database by Hamosh (2018).
In affected males in a large Dutch family with nonspecific X-linked mental retardation (MRX46; 300436), Kutsche et al. (2000) identified a mutation in the ARHGEF6 gene. The base change IVS1-11T-C had a marginal effect on the predicted splicing efficiency but was not detected in 170 control chromosomes. In affected males, RT-PCR amplification demonstrated products of 2 different sizes: a larger amplicon corresponding to the wildtype fragment, and a smaller amplicon in which exon 1 was spliced to exon 3. Thus, all mentally retarded males in the MRX46 family exhibited enhanced skipping of exon 2.
Hamosh (2018) found that the IVS1-11T-C variant (rs140322310) was present in 53 hemizygotes in the ExAC database (November 21, 2018), suggesting that the variant is not pathogenic
Intellectual disability v2.787 ARHGEF6 Richard Scott reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.35 ITGA3 Eleanor Williams commented on gene: ITGA3: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that this gene should be rated green on this panel.
Proteinuric renal disease v1.35 MAGI2 Eleanor Williams Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15 617609
Proteinuric renal disease v1.34 MAGI2 Eleanor Williams Publications for gene: MAGI2 were set to
Proteinuric renal disease v1.33 MAGI2 Eleanor Williams Mode of inheritance for gene: MAGI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.32 MAGI2 Eleanor Williams Classified gene: MAGI2 as Green List (high evidence)
Proteinuric renal disease v1.32 MAGI2 Eleanor Williams Added comment: Comment on list classification: Rating green as there are 4 cases reported.
Proteinuric renal disease v1.32 MAGI2 Eleanor Williams Gene: magi2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.31 MAGI2 Eleanor Williams commented on gene: MAGI2: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although the reported cases have slightly different phenotypes, these are sufficiently similar to have the same pathophysiological basis. Bristol also have some unpublished cases.
Proteinuric renal disease v1.31 MAGI2 Eleanor Williams edited their review of gene: MAGI2: Added comment: Associated with Nephrotic syndrome, type 15 (617609) in OMIM.

PMID: 29773874 - Ashraf et al 2018 - identified homozygous truncating mutations in the MAGI2 gene (p.Gly39* and p.Tyr746*) in two individuals from unrelated families with SRNS and neurologic impairment.

PMID: 27932480 - Bierzynska et al 2017 - detected two unique frameshift mutations and one duplication in three patients (two families); Two siblings (175 and 175S) shared the same homozygous frameshift deletion c.3998delG:p.(Gly1333Alafs*141). The patient with the sporadic case (180) exhibited compound heterozygosity: a deletion (paternal) resulting in a premature stop codon c.64_71delAGGAACCC:p.(Arg22Glyfs*7) together with a duplication (maternal) c.3526_3533dupCTGGCAGA:p.(Glu1178Aspfs*9). All three variants were absent in the ExAC database.; Changed publications: PMID: 29773874, PMID: 27932480
Proteinuric renal disease v1.31 GLA Eleanor Williams Publications for gene: GLA were set to
Proteinuric renal disease v1.30 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to Fabry disease 301500
Proteinuric renal disease v1.29 GLA Eleanor Williams Mode of inheritance for gene: GLA 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)
Proteinuric renal disease v1.28 GLA Eleanor Williams Classified gene: GLA as Amber List (moderate evidence)
Proteinuric renal disease v1.28 GLA Eleanor Williams Added comment: Comment on list classification: Rating Amber until a review of the prevalence of proteinuria in Fabry disease patients is done.
Proteinuric renal disease v1.28 GLA Eleanor Williams Gene: gla has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v1.27 GLA Eleanor Williams commented on gene: GLA: Proteinuria is a feature of Fabry disease, but the GMS renal specialist test group will review how common proteinuria is in patients with this syndrome. Rating Amber for now.
Proteinuric renal disease v1.27 GLA Eleanor Williams commented on gene: GLA: GLA is associated with Fabry disease (301500) in OMIM with numerous cases reported.
Proteinuric renal disease v1.27 WDR73 Eleanor Williams edited their review of gene: WDR73: Added comment: WDR73 is associated with Galloway-Mowat syndrome 1 (251300) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and WDR73 should be included on the Proteinuric renal disease panel.

PMID: 26123727 - Vodopiutz et al 2015. Report 2 patients from unrelated consanguineous families diagnosed with Galloway-Mowat syndrome. One with Indian one with Turkish ethnicity. Two variants identified, one missense, the other truncating; c.287G>A p.(Arg96Lys) and c.940C>T p.(Gln314*).

PMID: 25466283 - Colin et al 2014. Report 2 families with children with Galloway-Mowat syndrome. In family A (Moroccan) there are two affected children. One developed proteinuria, the other did not (at age 7). A homozygous A nonsense WDR73 mutation (c.129T>G [p.Tyr43∗]) was identified. In family B (consanguineous Turkish family) with one affected child who showed proteinuria as part of the phenotype, they detected another homozygous frameshift mutation in WDR73 (c.766dupC [p.Arg256Profs∗18]). Both variants segregated with the disease in the families, and neither is referenced in the NHLBI Exome Variant Server or in dbSNP.

PMID: 25873735 - Ben-Omran et al. (2015) - In 2 sisters, born of consanguineous Arab parents, with GAMOS1, identified a homozygous truncating mutation in the WDR73 gene (Q235X). One sister had proteinuria and other findings are suggestive of nephrotic disease (age 11 years), and the other sister at age 5 had findings suggestive of early features that might progress towards nephrotic disease.

PMID: 26070982 - Jinks et al. (2015) - report 27 Amish patients with GAMOS1 and identified a homozygous truncating mutation in the WDR73 gene. 57% developed steroid non-responsive, fluctuating proteinuria.; Changed publications: PMID: 26123727, PMID: 25466283
Proteinuric renal disease v1.27 TP53RK Eleanor Williams Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4 #617730
Proteinuric renal disease v1.26 TP53RK Eleanor Williams Publications for gene: TP53RK were set to
Proteinuric renal disease v1.25 TP53RK Eleanor Williams Mode of inheritance for gene: TP53RK was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.24 TP53RK Eleanor Williams Classified gene: TP53RK as Green List (high evidence)
Proteinuric renal disease v1.24 TP53RK Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are 3 unrelated families with variants in this gene with Galloway-Mowatt syndrome.
Proteinuric renal disease v1.24 TP53RK Eleanor Williams Gene: tp53rk has been classified as Green List (High Evidence).
Proteinuric renal disease v1.23 TP53RK Eleanor Williams commented on gene: TP53RK: TP53RK is associated with Galloway-Mowat syndrome 4 (617730) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and TP53RK should be included on the Proteinuric renal disease panel.

PMID: 28805828 - Braun et al 2017 - 4 patients from 3 unrelated families with Galloway-Mowat syndrome-4. Compound heterozygous or homozygous variants (4 different variants) found in the TP53RK gene. Functional data suggests the variants impaired protein functionality.
Proteinuric renal disease v1.23 NUP133 Eleanor Williams Phenotypes for gene: NUP133 were changed from to ?Galloway-Mowat syndrome 8 618349; Nephrotic syndrome, type 18 618177
Proteinuric renal disease v1.22 NUP133 Eleanor Williams Publications for gene: NUP133 were set to
Proteinuric renal disease v1.21 NUP133 Eleanor Williams Mode of inheritance for gene: NUP133 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.20 NUP133 Eleanor Williams edited their review of gene: NUP133: Added comment: This gene has a provisional association with ?Galloway-Mowat syndrome 8 (618349) and an association with Nephrotic syndrome, type 18 (618177) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of this condition, and NUP133 should be included on the Proteinuric renal disease panel.

PMID: 30179222 - Braun et al. (2018) - 2 families with nonsyndromic SRNS. In consanguineous family F797-21 they identified a homozygous (c.2922T>G, p.Ser974Arg) variant in 1 patient, and in a second family they identified compound heterozygous missense mutations (c.691C>G, p.Arg231Gly, and c.3164T>C, p.Leu1055Ser) in two siblings (A2174-21 and A2174-22).

PMID: 30427554 - Fujita et al (2018) - identified a homozygous NUP133 mutation, c.3335-11T>A, which results in the insertion of 9bp of intronic sequence between exons 25 and 26 in the mutant transcript. A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA; Changed publications: PMID: 30179222
Proteinuric renal disease v1.20 LAGE3 Eleanor Williams Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked #301006
Proteinuric renal disease v1.19 LAGE3 Eleanor Williams Publications for gene: LAGE3 were set to
Proteinuric renal disease v1.18 LAGE3 Eleanor Williams Mode of inheritance for gene: LAGE3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuric renal disease v1.17 LAGE3 Eleanor Williams Classified gene: LAGE3 as Green List (high evidence)
Proteinuric renal disease v1.17 LAGE3 Eleanor Williams Added comment: Comment on list classification: Changing this gene from red to green as 3 unrelated cases of variants in this gene in patients with Galloway-Mowat syndrome have been reported.
Proteinuric renal disease v1.17 LAGE3 Eleanor Williams Gene: lage3 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.16 LAGE3 Eleanor Williams commented on gene: LAGE3: LAGE3 is associated with Galloway-Mowat syndrome 2, X-linked (#301006) in OMIM. Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of this condition, and LAGE3 should be included on the Proteinuric renal disease panel.

PMID: 28805828 - Braun et al 2017 - hemizygous mutations in the LAGE3 gene were identified ion 4 male patients from 3 unrelated families with X-linked Galloway-Mowat syndrome-2. Three different variants (2 missense, one splice site). Patients with different ethnic backgrounds.
Optic neuropathy v1.111 TIMM8A Ivone Leong Classified gene: TIMM8A as Amber List (moderate evidence)
Optic neuropathy v1.111 TIMM8A Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TIMM8A is associated with a phenotype in both OMIM and Gene2Phenotype. Optic atrophy appears to be a minor feature of the condition and based on previous reviews, it was decided that not enough evidence is available to promote this to a green. However, if any new variants that explains the phenotype is available in the future then promotion to green gene status can be considered.
Optic neuropathy v1.111 TIMM8A Ivone Leong Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic neuropathy v1.110 TMEM126A Ivone Leong Classified gene: TMEM126A as Amber List (moderate evidence)
Optic neuropathy v1.110 TMEM126A Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TMEM126A is associated with a phenotype in OMIM but not Gene2Phenotype. There are 2 publications (PMID: 19327736, 20405026, 22815638) reporting on unrelated patients with optic atrophy who have the same variant (c.163C>T, p.R55X) who are from Algeria, Morocco and Tunisia. Haplotype analysis was consistent with a founder affect (PMID: 19327736). Based on this, it was decided that there is not enough evidence to promote it to green.
Optic neuropathy v1.110 TMEM126A Ivone Leong Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Inherited white matter disorders v1.61 SON Ellen Thomas gene: SON was added
gene: SON was added to Inherited white matter disorders. Sources: Other
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SON were set to ZTTK SYNDROME
Added comment: Green on ID panel, can include white matter abnormalities according to OMIM.
Sources: Other
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Classified gene: TECRL as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Added comment: Comment on list classification: Gene submitted by the South West GLH. Promoted from Red to Amber for discussion with the NHSE GMS cardio specialist grou.
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Gene: tecrl has been classified as Amber List (Moderate Evidence).
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Classified gene: KCNH2 as Amber List (moderate evidence)
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to additional expert review from the South West GLH and ClinGen group conclusion that there is not enough evidence for this to be involved in Brugada syndrome. Final decision to be made by the NHSE GMS specialist group.
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Gene: kcnh2 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection v1.90 FOXE3 Rebecca Whittington commented on gene: FOXE3: 617349 susceptibility to aortic aneurysm
Thoracic aortic aneurysm or dissection v1.90 CBS Rebecca Whittington commented on gene: CBS: 236200 Homocystinuria - clinical synopsis for homocystinuria on OMIM includes tall stature, ectopia lentis, myopia, mitral valve prolapse, pectus, kyphoscoliosis and arachnodactyly - phenotypic overlap with Marfan/EDS/LDS syndromic features. Gene is green in EDS panel.
Thoracic aortic aneurysm or dissection v1.90 TGFBR2 Rebecca Whittington commented on gene: TGFBR2: 610168 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFBR1 Rebecca Whittington commented on gene: TGFBR1: 609192 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFB3 Rebecca Whittington commented on gene: TGFB3: 615582 Loeys-Dietz syndrom; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFB2 Rebecca Whittington commented on gene: TGFB2: 614816 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 SMAD4 Rebecca Whittington commented on gene: SMAD4: 139210 Myhre syndrome - syndromic with cardiac abnormalities including aortic stenosis/coarctation. HGMD - 6 variants for Myher syndrome but phenotype varies for patients with same variant.
Thoracic aortic aneurysm or dissection v1.90 SMAD3 Rebecca Whittington commented on gene: SMAD3: 613795 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 SMAD2 Rebecca Whittington commented on gene: SMAD2: No OMIM association; HGMD Loeys-Dietz syndrome
Thoracic aortic aneurysm or dissection v1.90 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: 208050 Arterial tortuosity syndrome - autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries
Thoracic aortic aneurysm or dissection v1.90 SKI Rebecca Whittington commented on gene: SKI: 182212 Shprintzen-Goldberg syndrome - syndromic CTD including aortic root dilation
Thoracic aortic aneurysm or dissection v1.90 PRKG1 Rebecca Whittington commented on gene: PRKG1: 615436 FTAAD non-syndromic
Thoracic aortic aneurysm or dissection v1.90 PLOD1 Rebecca Whittington commented on gene: PLOD1: 225400 Kyphoscoliotic Ehlers-Danlos syndrome
Thoracic aortic aneurysm or dissection v1.90 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: 616028 Adams-Oliver syndrome - vascular abnormalities with congenital heart defects and limb abnormalities; 109730 Aortic valve disease - BAV
Thoracic aortic aneurysm or dissection v1.90 MYLK Rebecca Whittington commented on gene: MYLK: 613780 FTAAD; non-syndromic; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 MYH11 Rebecca Whittington commented on gene: MYH11: 132900 FTAAD; non-syndromic; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 LOX Rebecca Whittington commented on gene: LOX: 617168 Familial thoracic aortic aneursym
Thoracic aortic aneurysm or dissection v1.90 FLNA Rebecca Whittington commented on gene: FLNA: 314400 Cardiac valvular dysplasia, X-linked; 300048 Congenital short bowel syndrome; 309350 Melnick-Needles syndrome all have aortic involvement
Thoracic aortic aneurysm or dissection v1.90 FBN2 Rebecca Whittington commented on gene: FBN2: 121050 Contractural arachnodactyly - CTD including aortic root dilatation, patent ductus arteriosus, BAV, VSD, ASD, mitral valve prolapse and mitral regurgitation
Thoracic aortic aneurysm or dissection v1.90 FBN1 Rebecca Whittington commented on gene: FBN1: 154700 Marfan syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 ELN Rebecca Whittington commented on gene: ELN: 123700 Cutis Laxa; 185500 supravalvar aortic stenosis; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: 614437 Cutis Laxa - CTD phenotype including aortic/pulmonory artery anuerysms and arterial/venous tortuosity, arterial stenosis and vascular fragility. Missense, splicing and frameshift variants
Thoracic aortic aneurysm or dissection v1.90 COL5A2 Rebecca Whittington commented on gene: COL5A2: 130010 Classic Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 COL5A1 Rebecca Whittington commented on gene: COL5A1: 130000 Classic Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 COL3A1 Rebecca Whittington commented on gene: COL3A1: 130050 Vascular Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 ACTA2 Rebecca Whittington commented on gene: ACTA2: 611788 FTAAD, nonsyndromic, age of onset 3-79. Well characterised FTAAD gene.
Thoracic aortic aneurysm or dissection v1.90 ZNF469 Rebecca Whittington commented on gene: ZNF469: 229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapse
Thoracic aortic aneurysm or dissection v1.90 TNXB Rebecca Whittington commented on gene: TNXB: 606408 Ehlers-Danlos syndrome, classic-like, 1 -syndromic CTD with quadricuspid aortic valve and MVP.
Thoracic aortic aneurysm or dissection v1.90 SLC39A13 Rebecca Whittington commented on gene: SLC39A13: 612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3 - no cardiac phenotype on OMIM; no relevant phenotypes on HGMD and only 3 variants described in association with EDS
Thoracic aortic aneurysm or dissection v1.90 MFAP5 Rebecca Whittington commented on gene: MFAP5: 616166 Aortic aneurysm, familial thoracic 9 - syndromic - also pectus and arachnodactyly
Thoracic aortic aneurysm or dissection v1.90 LTBP2 Rebecca Whittington commented on gene: LTBP2: 614819 Weill-Marchesani syndrome 3 - short stature, myopia and aortic/pulmonary valve stenosis; Most HGMD variants associate with glaucoma
Thoracic aortic aneurysm or dissection v1.90 KCNN1 Rebecca Whittington commented on gene: KCNN1: No disease association on OMIM and HGMD has no entries for this gene; nothing relevant on PubMed search
Thoracic aortic aneurysm or dissection v1.90 HNRNPK Rebecca Whittington commented on gene: HNRNPK: 615580 Au-Kline syndrome - syndromic CTD including aortic root dilation and cardiac malformations.
Thoracic aortic aneurysm or dissection v1.90 FKBP14 Rebecca Whittington commented on gene: FKBP14: 614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 - rare aortic rupture and occasional patent ductus arteriosus, with other cardiac involvement being tricuspid and mitral valve insufficiency.
Thoracic aortic aneurysm or dissection v1.90 FBLN5 Rebecca Whittington commented on gene: FBLN5: 614434/219100 AD/AR Cutis Laxa - cardiac phenotype includes ascending aortic aneurysm, vascular tortuosity and SVAS. Most HGMD variants (10) are associated with age-related macular degeneration, but 7 variants reported in association with cutis laxa
Thoracic aortic aneurysm or dissection v1.90 COL9A3 Rebecca Whittington commented on gene: COL9A3: 600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy; no cardiac involment on OMIM and no relevant phenotype on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL9A2 Rebecca Whittington commented on gene: COL9A2: 614284 AR Stickler syndrome; 600204 AD multiple epiphyseal dysplasia; no mention of cardiac phenotype on OMIM and no relevant phenotype on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL9A1 Rebecca Whittington commented on gene: COL9A1: 614135 Multiple epiphyseal dysplasia; 614134 Stickler syndrome, type IV; no mention of cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL4A1 Rebecca Whittington commented on gene: COL4A1: 611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps - aneurysms are of carotid and cerebral arteries; 180000 tortuosity of retinal arteries; HGMD also checked; phenotype is small vessel brain/retinal disease
Thoracic aortic aneurysm or dissection v1.90 COL2A1 Rebecca Whittington commented on gene: COL2A1: A number of syndromic and non-syndromic skeletal dysplasia/CTD described on OMIM. Only one with any cardiac involvement is 108300 Stickler syndrome (mitral valve prolapse)
Thoracic aortic aneurysm or dissection v1.90 COL11A2 Rebecca Whittington commented on gene: COL11A2: 601868/609706 AD/AR Deafness; 614524 AD/AR Fibrochondrogenesis 2; 184840/215150 AD/AR Otospondylomegaepiphyseal dysplasia; no cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL11A1 Rebecca Whittington commented on gene: COL11A1: 154780 AD Marshall syndrome; 604841 AD Stickler syndrome, type II; 228520 AR Fibrochondrogenesis 1. None of these have aortic involvement (Patent foramen ovale in Fibrochondrogeneis 1); no relevant phenotypes listed on HGMD
Thoracic aortic aneurysm or dissection v1.90 CHST14 Rebecca Whittington commented on gene: CHST14: 601776 Ehlers-Danlos syndrome, musculocontractural type 1 - AR EDS with some cardiac involvement (valve anomolies/ASD)
Thoracic aortic aneurysm or dissection v1.90 B4GALT7 Rebecca Whittington commented on gene: B4GALT7: 130070 spondylodysplastic Ehler's Danlos syndrome. Only 9 variants on HGMD, mostly missense. This is a progeriod Ehlers Danlos syndrome that does not have any cardiac involvement but does have other features of connective tissue syndromes.
Thoracic aortic aneurysm or dissection v1.90 ATP7A Rebecca Whittington commented on gene: ATP7A: 309400 XLR Menkes disease; 304150 Occipital horn syndrome - some overlap with connective tissue disorders. Disorders of copper metabolism with neurological impariment.
Thoracic aortic aneurysm or dissection v1.90 ATP6V0A2 Rebecca Whittington commented on gene: ATP6V0A2: 219200 Cutis laxa; 278250 wrinkly skin syndrome; no cardiac phenotype but some overlapping skin/joint laxity features with MFS/EDS type syndromes. Over 40 variants associated with cutis laxa on HGMD.
Thoracic aortic aneurysm or dissection v1.90 ALDH18A1 Rebecca Whittington commented on gene: ALDH18A1: AD (606603)/AR (219150) cutis laxa; rarely associated with aortic insufficiency or thin aortic valve. Dislocations; joint laxity; spinal curvature; thin translucent lax skin are all features which overlap some of the MFS/EDS spectrum of syndromes.
Thoracic aortic aneurysm or dissection v1.90 ADAMTS2 Rebecca Whittington commented on gene: ADAMTS2: 225410 dermatospraxis type Ehlers-Danlos syndrome. OMIM phenotype is skin fragility and bruising without any cardiovascular phenotype. No aortopathy associations on OMIM
Thoracic aortic aneurysm or dissection v1.90 ACVR1 Rebecca Whittington commented on gene: ACVR1: 135100 Fibrodysplasia ossificans progressiva - no cardiovascular features on OMIM; no aortopathy associations on HGMD
Thoracic aortic aneurysm or dissection v1.90 ABCC6 Rebecca Whittington commented on gene: ABCC6: 264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm
Thoracic aortic aneurysm or dissection v1.90 PKD2 Rebecca Whittington commented on gene: PKD2: 613095 Polycystic kidney disease 2
Thoracic aortic aneurysm or dissection v1.90 PKD1 Rebecca Whittington commented on gene: PKD1: 173900 polycystic kidney disease (ADPKD); OMIM mentions cardiac features as valvular disease and intracranial aneurysm. No aortopathy phenotype on HGMD.
Thoracic aortic aneurysm or dissection v1.90 MED12 Rebecca Whittington commented on gene: MED12: 309520 Lujan-Fryns syndrome - connective tissue disorder with ascending aortic aneurysm, ASD/VSD according to OMIM
Thoracic aortic aneurysm or dissection v1.90 FLCN Rebecca Whittington commented on gene: FLCN: 135150 Birt-Hogg-Dube syndrome; 173600 primary spontaneous pneumothorax - neither of these have mention of cardiac phenotype but do mention pneumothorax being typical of Marfan syndrome
Thoracic aortic aneurysm or dissection v1.90 COL1A2 Rebecca Whittington commented on gene: COL1A2: 617821 AD Ehlers-Danlos syndrome, arthrochalasia type - no cardiac involvement; 225320 AR Ehlers-Danlos syndrome, cardiac valvular type - aortic/mitral valve insufficiency
Thoracic aortic aneurysm or dissection v1.90 COL1A1 Rebecca Whittington commented on gene: COL1A1: 130060 AD Ehler's Danlos syndrome arthrochalasia type 1, which does not have a cardiac/aortopathy phenotype associated on OMIM; gene also causative of osteogeneisis imperfecta. Should this be included as it is similar situation to some of the red genes - involved in CTD but without aortopathy.
Thoracic aortic aneurysm or dissection v1.90 BGN Rebecca Whittington commented on gene: BGN: 300989 Meester-Loeys syndrome; phenotype includes aortic aneurysm and dissection as well as rare pulmonory and cerebral artery aneurysm in addition to other syndromic connective tissue phenotypes; female carriers variable phenotype from unaffected to fatal aortic dissection (OMIM).
Thoracic aortic aneurysm or dissection v1.90 ABL1 Rebecca Whittington commented on gene: ABL1: 617602 Congenital heart defects and skeletal malformations syndrome - includes ASD, VSD, aortic root dilation and coarctation of the aorta in addition to other syndromic connective tissue phenotypes; only two variants associated with this phenotype in HGMD, both from same publication
Short QT syndrome v1.10 SCN5A Rebecca Whittington commented on gene: SCN5A: Various (not SQT)
Short QT syndrome v1.10 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 611876
Short QT syndrome v1.10 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No associated phenotype on OMIM
Short QT syndrome v1.10 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: No associated phenotype on OMIM
Short QT syndrome v1.10 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Carnitine deficiency, systemic primary 212140
Short QT syndrome v1.10 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Short QT syndrome 2
Short QT syndrome v1.10 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Short QT syndrome 3
Short QT syndrome v1.10 KCNH2 Rebecca Whittington commented on gene: KCNH2: Short QT syndrome 2 (609621)
Short QT syndrome v1.10 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Timothy syndrome (601005); Brugada syndrome 3 (611875)
Progressive cardiac conduction disease v0.18 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (600919), Long QT syndrome 4 (600919)
Progressive cardiac conduction disease v0.18 GJA5 Rebecca Whittington commented on gene: GJA5: Atrial fibrillation, familial, 11 (614049), Atrial standstill, digenic (GJA5/SCN5A) (108770)
Progressive cardiac conduction disease v0.18 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects (108900), Conotruncal heart malformations, variable (217095), Hypoplastic left heart (syndrome 2 (614435), Hypothyroidism, congenital nongoitrous, 5 (225250), Tetralogy of Fallot (187500), Ventricular septal defect 3 (614432)
Progressive cardiac conduction disease v0.18 TBX3 Rebecca Whittington commented on gene: TBX3: Ulnar-mammary syndrome (181450)
Progressive cardiac conduction disease v0.18 TBX5 Rebecca Whittington commented on gene: TBX5: Holt-Oram syndrome (142900)
Progressive cardiac conduction disease v0.18 EMD Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, X-linked (OMIM 310300)
Progressive cardiac conduction disease v0.18 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I (604765)
Progressive cardiac conduction disease v0.18 LMNA Rebecca Whittington commented on gene: LMNA: 115200 Cardiomyopathy, dilated, 1A
Progressive cardiac conduction disease v0.18 HCN4 Rebecca Whittington commented on gene: HCN4: Sick sinus syndrome 2 (163800)
Progressive cardiac conduction disease v0.18 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (604559)
Progressive cardiac conduction disease v0.18 SCN5A Rebecca Whittington commented on gene: SCN5A: Heart block, nonprogressive (113900); Heart block, progressive, type IA (OMIM 113900)
Progressive cardiac conduction disease v0.18 SCN1B Rebecca Whittington commented on gene: SCN1B: Cardiac conduction defect, nonspecific (612838)
Progressive cardiac conduction disease v0.18 KCNK17 Rebecca Whittington commented on gene: KCNK17: Potassium channel, subfamily K, Member 17 (no MIM)
Long QT syndrome v1.26 SCN4B Rebecca Whittington commented on gene: SCN4B: Atrial fibrillation, familial, 17 (OMIM 611819), Long QT syndrome-10 (OMIM 611819).
Long QT syndrome v1.26 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Long QT syndrome v1.26 NOS1AP Rebecca Whittington commented on gene: NOS1AP: [QT interval, variation in] (OMIM %610741) - only association
Long QT syndrome v1.26 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Long QT syndrome v1.26 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Long QT syndrome v1.26 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Long QT syndrome v1.26 AKAP9 Rebecca Whittington commented on gene: AKAP9: ?Long QT syndrome-11 (OMIM 611820)
Long QT syndrome v1.26 SNTA1 Rebecca Whittington commented on gene: SNTA1: Long QT syndrome 12 (OMIM 612955)
Long QT syndrome v1.26 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Long QT syndrome v1.26 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (OMIM 607554), Jervell and Lange-Nielsen syndrome (OMIM 220400 - AR), Long QT syndrome 1 (OMIM 192500), Short QT syndrome 2 (609621), {Long QT syndrome 1, acquired, susceptibility to} (OMIM 192500)
Long QT syndrome v1.26 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Hyperaldosteronism, familial, type III (OMIM 613677), Long QT syndrome 13 (OMIM 613485).
Long QT syndrome v1.26 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Long QT syndrome v1.26 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Long QT syndrome v1.26 KCNE2 Rebecca Whittington commented on gene: KCNE2: Atrial fibrillation, familial, 4 (OMIM 611493), Long QT syndrome 6 (OMIM 613693)
Long QT syndrome v1.26 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Long QT syndrome v1.26 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Long QT syndrome v1.26 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Long QT syndrome v1.26 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Long QT syndrome v1.26 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249)
Long QT syndrome v1.26 ALG10 Rebecca Whittington commented on gene: ALG10: {Long QT syndrome, acquired, reduced susceptibility to} (OMIM 613688)
Hypertrophic cardiomyopathy v1.53 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Glycogen storage disease IIIa&b
Hypertrophic cardiomyopathy v1.53 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related (105210 )
Hypertrophic cardiomyopathy v1.53 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26 (102565)
Hypertrophic cardiomyopathy v1.53 ACTN2 Rebecca Whittington commented on gene: ACTN2: Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
Hypertrophic cardiomyopathy v1.53 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, hypertrophic, 3 (115196)
Hypertrophic cardiomyopathy v1.53 TNNT2 Rebecca Whittington commented on gene: TNNT2: Cardiomyopathy, hypertrophic, 2 (115195)
Hypertrophic cardiomyopathy v1.53 TNNI3 Rebecca Whittington commented on gene: TNNI3: Cardiomyopathy, hypertrophic, 7 (613690 )
Hypertrophic cardiomyopathy v1.53 TNNC1 Rebecca Whittington commented on gene: TNNC1: Cardiomyopathy, hypertrophic, 13 (613243)
Hypertrophic cardiomyopathy v1.53 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 (600858 )
Hypertrophic cardiomyopathy v1.53 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, hypertrophic, 18 (613874 )
Hypertrophic cardiomyopathy v1.53 MYL3 Rebecca Whittington commented on gene: MYL3: Cardiomyopathy, hypertrophic, 8 (160790 )
Hypertrophic cardiomyopathy v1.53 MYL2 Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 (608758)
Hypertrophic cardiomyopathy v1.53 MYH7 Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, hypertrophic, 1 (192600 )
Hypertrophic cardiomyopathy v1.53 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Cardiomyopathy, hypertrophic, 4 (115197)
Hypertrophic cardiomyopathy v1.53 LAMP2 Rebecca Whittington commented on gene: LAMP2: Danon disease (300257)
Hypertrophic cardiomyopathy v1.53 GLA Rebecca Whittington commented on gene: GLA: Fabry disease (301500)
Hypertrophic cardiomyopathy v1.53 FHL1 Rebecca Whittington commented on gene: FHL1: Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Hypertrophic cardiomyopathy v1.53 CSRP3 Rebecca Whittington commented on gene: CSRP3: Cardiomyopathy, hypertrophic, 12. 612124
Hypertrophic cardiomyopathy v1.53 ACTC1 Rebecca Whittington commented on gene: ACTC1: Cardiomyopathy, hypertrophic, 11 612098
Hypertrophic cardiomyopathy v1.53 TRIM63 Rebecca Whittington commented on gene: TRIM63: No OMIM phenotype
Hypertrophic cardiomyopathy v1.53 TMEM70 Rebecca Whittington commented on gene: TMEM70: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (614052)
Hypertrophic cardiomyopathy v1.53 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Cardiomyopathy, hypertrophic, 16 (613838)
Hypertrophic cardiomyopathy v1.53 MYOM1 Rebecca Whittington commented on gene: MYOM1: No phenotype on OMIM, associations with HCM
Hypertrophic cardiomyopathy v1.53 VCL Rebecca Whittington commented on gene: VCL: Cardiomyopathy, hypertrophic, 15 (613255)
Hypertrophic cardiomyopathy v1.53 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, familial hypertrophic, 9 (613765)
Hypertrophic cardiomyopathy v1.53 TSFM Rebecca Whittington commented on gene: TSFM: Combined oxidative phosphorylation deficiency 3 (610505)
Hypertrophic cardiomyopathy v1.53 TCAP Rebecca Whittington commented on gene: TCAP: Cardiomyopathy, hypertrophic, 25 (607487)
Hypertrophic cardiomyopathy v1.53 SOS1 Rebecca Whittington commented on gene: SOS1: Noonan syndrome 4 (610773)
Hypertrophic cardiomyopathy v1.53 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
Hypertrophic cardiomyopathy v1.53 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: Mitochondrial phosphate carrier deficiency (610773)
Hypertrophic cardiomyopathy v1.53 SHOC2 Rebecca Whittington commented on gene: SHOC2: Noonan-like syndrome with loose anagen hair (607721)
Hypertrophic cardiomyopathy v1.53 SCO2 Rebecca Whittington commented on gene: SCO2: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (604377); Myopia 6 (608908)
Hypertrophic cardiomyopathy v1.53 RAF1 Rebecca Whittington commented on gene: RAF1: Noonan syndrome 5 (611553); LEOPARD syndrome 2 (611554); Cardiomyopathy, dilated, 1NN (615916)
Hypertrophic cardiomyopathy v1.53 PTPN11 Rebecca Whittington commented on gene: PTPN11: LEOPARD syndrome 1 (151100); Noonan syndrome 1 (163950)
Hypertrophic cardiomyopathy v1.53 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype
Hypertrophic cardiomyopathy v1.53 NRAS Rebecca Whittington commented on gene: NRAS: Noonan syndrome 6 (613224)
Hypertrophic cardiomyopathy v1.53 MYO6 Rebecca Whittington commented on gene: MYO6: Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (606346)
Hypertrophic cardiomyopathy v1.53 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No phenotype
Hypertrophic cardiomyopathy v1.53 MRPL3 Rebecca Whittington commented on gene: MRPL3: Combined oxidative phosphorylation deficiency 9 (614582)
Hypertrophic cardiomyopathy v1.53 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: Cardiofaciocutaneous syndrome 4 (615280)
Hypertrophic cardiomyopathy v1.53 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Cardiofaciocutaneous syndrome 3 (615279)
Hypertrophic cardiomyopathy v1.53 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Hypertrophic cardiomyopathy v1.53 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, hypertrophic, 24 (601493)
Hypertrophic cardiomyopathy v1.53 KLF10 Rebecca Whittington commented on gene: KLF10: No phenotype
Hypertrophic cardiomyopathy v1.53 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (607554); Long QT syndrome 1 (192500) and others
Hypertrophic cardiomyopathy v1.53 HRAS Rebecca Whittington commented on gene: HRAS: Costello syndrome (218040)
Hypertrophic cardiomyopathy v1.53 GUSB Rebecca Whittington commented on gene: GUSB: Mucopolysaccharidosis VII (253220)
Hypertrophic cardiomyopathy v1.53 GLB1 Rebecca Whittington commented on gene: GLB1: GM1-gangliosidosis, type I, II, III (230500, 230600, 230650)
Hypertrophic cardiomyopathy v1.53 GAA Rebecca Whittington commented on gene: GAA: Glycogen storage disease II (232300)
Hypertrophic cardiomyopathy v1.53 FXN Rebecca Whittington commented on gene: FXN: Friedreich ataxia (229300)
Hypertrophic cardiomyopathy v1.53 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficiency, nuclear type 19 (618241)
Hypertrophic cardiomyopathy v1.53 CRYAB Rebecca Whittington commented on gene: CRYAB: Cardiomyopathy, dilated, 1II (123590); Myopathy, myofibrillar, 2 (608810)
Hypertrophic cardiomyopathy v1.53 COA5 Rebecca Whittington commented on gene: COA5: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (616500)
Hypertrophic cardiomyopathy v1.53 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (192600 )
Hypertrophic cardiomyopathy v1.53 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Hypertrophic cardiomyopathy v1.53 CALR3 Rebecca Whittington commented on gene: CALR3: omim 611414 no phenotype
Hypertrophic cardiomyopathy v1.53 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (611875); Timothy syndrome (601005)
Hypertrophic cardiomyopathy v1.53 BRAF Rebecca Whittington commented on gene: BRAF: Cardiofaciocutaneous syndrome (115150)
Hypertrophic cardiomyopathy v1.53 ATP5E Rebecca Whittington commented on gene: ATP5E: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (614053)
Hypertrophic cardiomyopathy v1.53 AGL Rebecca Whittington commented on gene: AGL: VLCAD deficiency 1A&B (232400)
Hypertrophic cardiomyopathy v1.53 ACADVL Rebecca Whittington commented on gene: ACADVL: VLCAD deficiency (201475)
Hypertrophic cardiomyopathy v1.53 NEXN Rebecca Whittington commented on gene: NEXN: Cardiomyopathy, hypertrophic, 20 (613876 )
Hypertrophic cardiomyopathy v1.53 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, hypertrophic, 22 (615248 )
Hypertrophic cardiomyopathy v1.53 MYLK2 Rebecca Whittington commented on gene: MYLK2: Cardiomyopathy, hypertrophic, 1, digenic (192600)
Hypertrophic cardiomyopathy v1.53 JPH2 Rebecca Whittington commented on gene: JPH2: Cardiomyopathy, hypertrophic, 17 (605267 )
Hypertrophic cardiomyopathy v1.53 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419 )
Hypertrophic cardiomyopathy v1.53 ACTA1 Rebecca Whittington commented on gene: ACTA1: ?Myopathy, scapulohumeroperoneal (616852); Myopathy, actin, congenital, with cores (161800); Myopathy, congenital, with fiber-type disproportion 1 (255310); Nemaline myopathy 3, autosomal dominant or recessive (161800)
Hypertrophic cardiomyopathy v1.53 MYH6 Rebecca Whittington commented on gene: MYH6: Cardiomyopathy, hypertrophic, 14 (613251 )
Dilated Cardiomyopathy and conduction defects v1.55 XK Rebecca Whittington commented on gene: XK: McLeod syndrome with or without chronic granulomatous disease OMIM#300842
Dilated Cardiomyopathy and conduction defects v1.55 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: ?Glucocorticoid deficiency 5 OMIM#617825
Dilated Cardiomyopathy and conduction defects v1.55 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430;[Dystransthyretinemic hyperthyroxinemia] OMIM#145680
Dilated Cardiomyopathy and conduction defects v1.55 TMPO Rebecca Whittington commented on gene: TMPO: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 OMIM#604400;Emery-Dreifuss muscular dystrophy 7, AD OMIM#614302
Dilated Cardiomyopathy and conduction defects v1.55 SYNE2 Rebecca Whittington commented on gene: SYNE2: Emery-Dreifuss muscular dystrophy 5, autosomal dominant OMIM#612999
Dilated Cardiomyopathy and conduction defects v1.55 SYNE1 Rebecca Whittington commented on gene: SYNE1: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM#612998; Spinocerebellar ataxia, autosomal recessive 8 OMIM#610743
Dilated Cardiomyopathy and conduction defects v1.55 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772.
Dilated Cardiomyopathy and conduction defects v1.55 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200
Dilated Cardiomyopathy and conduction defects v1.55 PRDM16 Rebecca Whittington commented on gene: PRDM16: Cardiomyopathy, dilated, 1LL OMIM#615373; Left ventricular noncompaction 8 OMIM#615373
Dilated Cardiomyopathy and conduction defects v1.55 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 OMIM#609040
Dilated Cardiomyopathy and conduction defects v1.55 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 NEBL Rebecca Whittington commented on gene: NEBL: No phenotype on OMIM. DCM, HCM and LVNC in literature
Dilated Cardiomyopathy and conduction defects v1.55 MYL3 Rebecca Whittington commented on gene: MYL3: Cardiomyopathy, hypertrophic, 8 OMIM#608751
Dilated Cardiomyopathy and conduction defects v1.55 MYL2 Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 OMIM#608758
Dilated Cardiomyopathy and conduction defects v1.55 LAMP2 Rebecca Whittington commented on gene: LAMP2: Danon disease OMIM#300257
Dilated Cardiomyopathy and conduction defects v1.55 LAMA4 Rebecca Whittington commented on gene: LAMA4: Cardiomyopathy, dilated, 1JJ OMIM#615235
Dilated Cardiomyopathy and conduction defects v1.55 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 OMIM#611528; Naxos disease OMIM#601214
Dilated Cardiomyopathy and conduction defects v1.55 ILK Rebecca Whittington commented on gene: ILK: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 GLA Rebecca Whittington commented on gene: GLA: Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500
Dilated Cardiomyopathy and conduction defects v1.55 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 OMIM#617047; Myopathy, distal, 4 OMIM#614065; Myopathy, myofibrillar, 5 OMIM#609524
Dilated Cardiomyopathy and conduction defects v1.55 FHL2 Rebecca Whittington commented on gene: FHL2: Phenotype not listed on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 FHL1 Rebecca Whittington commented on gene: FHL1: ?Uruguay faciocardiomusculoskeletal syndrome OMIM#300280; Emery-Dreifuss muscular dystrophy 6, X-linked OMIM# 300696; Myopathy, X-linked, with postural muscle atrophy OMIM#300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM#300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM#300718; Scapuloperoneal myopathy, X-linked dominant OMIM#300695.
Dilated Cardiomyopathy and conduction defects v1.55 EMD Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, OMIM#310300
Dilated Cardiomyopathy and conduction defects v1.55 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877
Dilated Cardiomyopathy and conduction defects v1.55 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 OMIM#610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair OMIM#610476
Dilated Cardiomyopathy and conduction defects v1.55 DOLK Rebecca Whittington commented on gene: DOLK: Congenital disorder of glycosylation, type Im OMIM#610768
Dilated Cardiomyopathy and conduction defects v1.55 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: 3-methylglutaconic aciduria, type V OMIM#610198
Dilated Cardiomyopathy and conduction defects v1.55 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy 1 OMIM#160900
Dilated Cardiomyopathy and conduction defects v1.55 CTF1 Rebecca Whittington commented on gene: CTF1: Phenotype not listed on OMIM. DCM
Dilated Cardiomyopathy and conduction defects v1.55 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, dilated, 1KK OMIM#615248; Cardiomyopathy, familial restrictive, 4 OMIM#615248; Cardiomyopathy, hypertrophic, 22 OMIM#615248; Nemaline myopathy 11, autosomal recessive OMIM#617336
Dilated Cardiomyopathy and conduction defects v1.55 CRYAB Rebecca Whittington commented on gene: CRYAB: OMIM#615184 Cardiomyopathy, dilated, 1II; OMIM# 613763 Cataract 16, multiple types; OMIM#608810 Myopathy, myofibrillar, 2; OMIM#613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
Dilated Cardiomyopathy and conduction defects v1.55 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Phenotype not listed on OMIM. DCM
Dilated Cardiomyopathy and conduction defects v1.55 VCL Rebecca Whittington commented on gene: VCL: Cardiomyopathy, dilated, 1W OMIM#611407; Cardiomyopathy, hypertrophic, 15 OMIM#613255
Dilated Cardiomyopathy and conduction defects v1.55 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G OMIM#604145; Cardiomyopathy, familial hypertrophic, 9 OMIM#613765; Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM#608807; Myopathy, proximal, with early respiratory muscle involvement#603689; Salih myopathy OMIM#611705; Tibial muscular dystrophy, tardive OMIM#600334
Dilated Cardiomyopathy and conduction defects v1.55 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, dilated, 1Y OMIM#611878; Cardiomyopathy, hypertrophic, 3 OMIM#115196; Left ventricular noncompaction 9 OMIM#611878
Dilated Cardiomyopathy and conduction defects v1.55 TNNT2 Rebecca Whittington commented on gene: TNNT2: Cardiomyopathy, dilated, 1D OMIM#601494; Cardiomyopathy, familial restrictive, 3 OMIM#612422; Cardiomyopathy, hypertrophic, 2 OMIM#115195; Left ventricular noncompaction 6 OMIM#601494
Dilated Cardiomyopathy and conduction defects v1.55 TNNI3 Rebecca Whittington commented on gene: TNNI3: ?Cardiomyopathy, dilated, 2A OMIM#611880; Cardiomyopathy, dilated, 1FF OMIM#613286; Cardiomyopathy, familial restrictive, 1 OMIM#115210;Cardiomyopathy, hypertrophic, 7 OMIM#613690
Dilated Cardiomyopathy and conduction defects v1.55 TNNC1 Rebecca Whittington commented on gene: TNNC1: Cardiomyopathy, dilated, 1Z OMIM#611879; Cardiomyopathy, hypertrophic, 13 OMIM#613243
Dilated Cardiomyopathy and conduction defects v1.55 TCAP Rebecca Whittington commented on gene: TCAP: Cardiomyopathy, hypertrophic, 25 OMIM#607487; Muscular dystrophy, limb-girdle, autosomal recessive 7 OMIM#601954
Dilated Cardiomyopathy and conduction defects v1.55 TAZ Rebecca Whittington commented on gene: TAZ: Barth syndrome OMIM#302060
Dilated Cardiomyopathy and conduction defects v1.55 SGCD Rebecca Whittington commented on gene: SGCD: Cardiomyopathy, dilated, 1L OMIM#606685; Muscular dystrophy, limb-girdle, autosomal recessive 6 OMIM#601287
Dilated Cardiomyopathy and conduction defects v1.55 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 OMIM#614022; Brugada syndrome 1 OMIM#601144; Cardiomyopathy, dilated, 1E OMIM#601154; Heart block, nonprogressive OMIM#113900; Heart block, progressive, type IA OMIM#113900; Long QT syndrome-3 OMIM#603830; Sick sinus syndrome 1 OMIM#608567; Ventricular fibrillation, familial, 1 OMIM#603829 {Sudden infant death syndrome, susceptibility to} OMIM#272120
Dilated Cardiomyopathy and conduction defects v1.55 RBM20 Rebecca Whittington commented on gene: RBM20: Cardiomyopathy, dilated, 1DD OMIM#613172
Dilated Cardiomyopathy and conduction defects v1.55 RAF1 Rebecca Whittington commented on gene: RAF1: Cardiomyopathy, dilated, 1NN OMIM#615916; LEOPARD syndrome 2 OMIM#611554; Noonan syndrome 5 OMIM#611553
Dilated Cardiomyopathy and conduction defects v1.55 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P OMIM#609909; Cardiomyopathy, hypertrophic, 18 OMIM#613874
Dilated Cardiomyopathy and conduction defects v1.55 NEXN Rebecca Whittington commented on gene: NEXN: Cardiomyopathy, dilated, 1CC OMIM#613122; Cardiomyopathy, hypertrophic, 20 OMIM#613876
Dilated Cardiomyopathy and conduction defects v1.55 MYH7 Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, dilated, 1S OMIM#613426; Cardiomyopathy, hypertrophic, 1 OMIM#192600; Laing distal myopathy OMIM#160500; Left ventricular noncompaction 5 OMIM#613426; Myopathy, myosin storage, autosomal dominant OMIM#608358; Myopathy, myosin storage, autosomal recessive OMIM#255160; Scapuloperoneal syndrome, myopathic type OMIM#181430.
Dilated Cardiomyopathy and conduction defects v1.55 MYH6 Rebecca Whittington commented on gene: MYH6: Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090
Dilated Cardiomyopathy and conduction defects v1.55 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Cardiomyopathy, dilated, 1MM OMIM#615396; Cardiomyopathy, hypertrophic, 4 OMIM#115197; Left ventricular noncompaction 10 OMIM#615396
Dilated Cardiomyopathy and conduction defects v1.55 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A OMIM#115200; Charcot-Marie-Tooth disease, type 2B1 OMIM#605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM#181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM#6165163; Heart-hand syndrome, Slovenian type 6OMIM#10140; Hutchinson-Gilford progeria OMIM#176670; Lipodystrophy, familial partial, type 2 OMIM#151660; Malouf syndrome OMIM#212112; Mandibuloacral dysplasia OMIM#248370; Muscular dystrophy, congenital OMIM#613205; Restrictive dermopathy, lethal OMIM#275210
Dilated Cardiomyopathy and conduction defects v1.55 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC OMIM#601493; Cardiomyopathy, hypertrophic, 24 OMIM#601493; Left ventricular noncompaction 3 OMIM#601493; Myopathy, myofibrillar, 4 OMIM#609452.
Dilated Cardiomyopathy and conduction defects v1.55 HFE Rebecca Whittington commented on gene: HFE: Hemochromatosis OMIM:235200; {HFE hemochromatosis, modifier of} OMIM#235200
Dilated Cardiomyopathy and conduction defects v1.55 FKTN Rebecca Whittington commented on gene: FKTN: Cardiomyopathy, dilated, 1X OMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, OMIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, OMIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, OMIM#611588.
Dilated Cardiomyopathy and conduction defects v1.55 EYA4 Rebecca Whittington commented on gene: EYA4: ?Cardiomyopathy, dilated, 1J OMIM#605362; Deafness, autosomal dominant 10 OMIM#601316
Dilated Cardiomyopathy and conduction defects v1.55 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 OMIM#607450; Cardiomyopathy, dilated, with woolly hair and keratoderma OMIM#605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis OMIM#615821; Epidermolysis bullosa, lethal acantholytic OMIM#609638; Keratosis palmoplantaris striata II OMIM#612908; Skin fragility-woolly hair syndrome OMIM#607655
Dilated Cardiomyopathy and conduction defects v1.55 DMD Rebecca Whittington commented on gene: DMD: Becker muscular dystrophy OMIM#300376;Cardiomyopathy, dilated, 3B OMIM#302045;Duchenne muscular dystrophy OMIM#310200
Dilated Cardiomyopathy and conduction defects v1.55 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I OMIM# 604765;Myopathy, myofibrillar, 1 OMIM#601419; Scapuloperoneal syndrome, neurogenic, Kaeser type OMIM#181400
Dilated Cardiomyopathy and conduction defects v1.55 CSRP3 Rebecca Whittington commented on gene: CSRP3: OMIM#607482 ?Cardiomyopathy, dilated, 1M; OMIM#612124 Cardiomyopathy, hypertrophic, 12
Dilated Cardiomyopathy and conduction defects v1.55 BAG3 Rebecca Whittington commented on gene: BAG3: OMIM#613881: Cardiomyopathy, dilated, 1HH; OMIM#612954: Myopathy, myofibrillar, 6.
Dilated Cardiomyopathy and conduction defects v1.55 ACTN2 Rebecca Whittington commented on gene: ACTN2: OMIM#612158: Cardiomyopathy, dilated 1AA with or without LVNC and Cardiomyopathy, hypertrophic, 23, with or without LVNC
Dilated Cardiomyopathy and conduction defects v1.55 ACTC1 Rebecca Whittington commented on gene: ACTC1: OMIM#613424: Cardiomyopathy dilated 12; OMIM#612098 Cardiomyopathy, familial hypertrophy
Dilated Cardiomyopathy and conduction defects v1.55 ABCC9 Rebecca Whittington commented on gene: ABCC9: OMIM#608569: Cardiomyopathy, dilated 1O; OMIM#614050: Atrial Fibrillation 12 OMIM#239850:Cantu Syndrome
Dilated Cardiomyopathy and conduction defects v1.55 SGCB Rebecca Whittington commented on gene: SGCB: Muscular dystrophy, limb-girdle, autosomal recessive 4 OMIM#604286
Dilated Cardiomyopathy and conduction defects v1.55 SDHA Rebecca Whittington commented on gene: SDHA: Cardiomyopathy, dilated, 1GG OMIM#613642; Leigh syndrome OMIM256000; Mitochondrial respiratory chain complex II deficiency OMIM#252011;Paragangliomas 5 OMIM#614165
Dilated Cardiomyopathy and conduction defects v1.55 NPPA Rebecca Whittington commented on gene: NPPA: Atrial fibrillation, familial, 6 OMIM#612201; Atrial standstill 2 OMIM#615745
Dilated Cardiomyopathy and conduction defects v1.55 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects OMIM#108900; Conotruncal heart malformations, variable OMIM#217095; Hypoplastic left heart syndrome 2 OMIM#614435; Hypothyroidism, congenital nongoitrous, 5 OMIM#225250; Tetralogy of Fallot OMIM#187500; Ventricular septal defect 3 OMMIM 614432
Dilated Cardiomyopathy and conduction defects v1.55 MPO Rebecca Whittington commented on gene: MPO: Myeloperoxidase deficiency OMIM#254600 AR; {Alzheimer disease, susceptibility to} OMIM#104300;{Lung cancer, protection against, in smokers}
Dilated Cardiomyopathy and conduction defects v1.55 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: Phenotype not listed on OMIM.
Dilated Cardiomyopathy and conduction defects v1.55 ACTA1 Rebecca Whittington commented on gene: ACTA1: OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11;OMIM#613424 Left ventricular noncompaction 4
Dilated Cardiomyopathy and conduction defects v1.55 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 OMIM#615377; Brugada syndrome 5 OMIM#612838; Cardiac conduction defect, nonspecific OMIM#612838; Epilepsy, generalized, with febrile seizures plus, type 1 OMIM#604233; Epileptic encephalopathy, early infantile, 52 OMIM#617350
Dilated Cardiomyopathy and conduction defects v1.55 PSEN2 Rebecca Whittington commented on gene: PSEN2: Alzheimer disease-4 OMIM#606889; Cardiomyopathy, dilated, 1V OMI#613697
Dilated Cardiomyopathy and conduction defects v1.55 PSEN1 Rebecca Whittington commented on gene: PSEN1: ?Acne inversa, familial, 3 OMIM#613737; Alzheimer disease, type 3 OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques OMIM# 607822; Cardiomyopathy, dilated, 1U OMIM#613694; Dementia, frontotemporal OMIM#600274; Pick disease OMIM#172700
Dilated Cardiomyopathy and conduction defects v1.55 GATAD1 Rebecca Whittington commented on gene: GATAD1: ?Cardiomyopathy, dilated, 2B OMIM#614672
Dilated Cardiomyopathy and conduction defects v1.55 TFR2 Rebecca Whittington commented on gene: TFR2: Hemochromatosis, type 3 OMIM#604250
Dilated Cardiomyopathy and conduction defects v1.55 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Hemochromatosis, type 4 OMIM#606069
Dilated Cardiomyopathy and conduction defects v1.55 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: Martsolf syndrome OMIM#212720; Warburg micro syndrome 2 OMIM#614225
Dilated Cardiomyopathy and conduction defects v1.55 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 IDH2 Rebecca Whittington commented on gene: IDH2: D-2-hydroxyglutaric aciduria 2 OMIM:613657
Dilated Cardiomyopathy and conduction defects v1.55 HFE2 Rebecca Whittington commented on gene: HFE2: Hemochromatosis, type 2A OMIM# 602390
Dilated Cardiomyopathy and conduction defects v1.55 HAMP Rebecca Whittington commented on gene: HAMP: Hemochromatosis, type 2B OMIM:613313
Dilated Cardiomyopathy and conduction defects v1.55 EPG5 Rebecca Whittington commented on gene: EPG5: Vici syndrome OMIM#242840
Catecholaminergic polymorphic VT v1.13 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Catecholaminergic polymorphic VT v1.13 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Catecholaminergic polymorphic VT v1.13 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Catecholaminergic polymorphic VT v1.13 TRDN Rebecca Whittington commented on gene: TRDN: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (OMIM 615441)
Catecholaminergic polymorphic VT v1.13 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Catecholaminergic polymorphic VT v1.13 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (OMIM 611938)
Catecholaminergic polymorphic VT v1.13 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Catecholaminergic polymorphic VT v1.13 TECRL Rebecca Whittington commented on gene: TECRL: Ventricular tachycardia, catecholaminergic polymorphic, 3 (OMIM 614021)
Catecholaminergic polymorphic VT v1.13 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Catecholaminergic polymorphic VT v1.13 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249). Overlapping phenotype with CPVT
Brugada syndrome and cardiac sodium channel disease v1.38 SCN2B Rebecca Whittington commented on gene: SCN2B: Atrial fibrillation, familial, 14 (OMIM 615378)
Brugada syndrome and cardiac sodium channel disease v1.38 RANGRF Rebecca Whittington commented on gene: RANGRF: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (OMIM 609040)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: Only possible links with Brugada (OMIM 601144)) and Cantu (OMIM 23985) -VUS only
Brugada syndrome and cardiac sodium channel disease v1.38 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Brugada syndrome and cardiac sodium channel disease v1.38 KCND3 Rebecca Whittington commented on gene: KCND3: Brugada syndrome 9 (OMIM 616399), Spinocerebellar ataxia 19 (OMIM 607346).
Brugada syndrome and cardiac sodium channel disease v1.38 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Brugada syndrome and cardiac sodium channel disease v1.38 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Brugada syndrome and cardiac sodium channel disease v1.38 ABCC9 Rebecca Whittington commented on gene: ABCC9: Atrial fibrillation, familial, 12 (OMIM 614050), Cardiomyopathy, dilated, 1O (OMIM 608569), Hypertrichotic osteochondrodysplasia (Cantu -OMIM 239850)
Brugada syndrome and cardiac sodium channel disease v1.38 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (OMIM 604559)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN3B Rebecca Whittington commented on gene: SCN3B: Atrial fibrillation, familial, 16 (OMIM 613120), Brugada syndrome 7 (OMIM 613120)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 (OMIM 615377), Brugada syndrome 5 (OMIM 612838), Cardiac conduction defect, nonspecific (OMIM 612838), Epilepsy, generalized, with febrile seizures plus, type 1 (OMIM 604233), Epileptic encephalopathy, early infantile, 52 (OMIM 617350 - AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN10A Rebecca Whittington commented on gene: SCN10A: Episodic pain syndrome, familial, 2 (OMIM 615551), PR Interval, variation in (OMIM %108980)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Brugada syndrome and cardiac sodium channel disease v1.38 HCN4 Rebecca Whittington commented on gene: HCN4: Brugada syndrome 8 (OMIM 613123), Sick sinus syndrome 2 (OMIM 163800)
Brugada syndrome and cardiac sodium channel disease v1.38 GPD1L Rebecca Whittington commented on gene: GPD1L: Brugada syndrome 2 (OMIM 611777)
Brugada syndrome and cardiac sodium channel disease v1.38 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 (OMIM 611876)
Brugada syndrome and cardiac sodium channel disease v1.38 SLMAP Rebecca Whittington commented on gene: SLMAP: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE5 Rebecca Whittington commented on gene: KCNE5: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 DLG1 Rebecca Whittington commented on gene: DLG1: No links to phenotypes on OMIM
Arrhythmogenic right ventricular cardiomyopathy v1.23 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others
Arrhythmogenic right ventricular cardiomyopathy v1.23 TGFB3 Rebecca Whittington commented on gene: TGFB3: Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)
Arrhythmogenic right ventricular cardiomyopathy v1.23 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830)
Arrhythmogenic right ventricular cardiomyopathy v1.23 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Arrhythmogenic right ventricular cardiomyopathy v1.23 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Cardiomyopathy, dilated, 1C, with or without LVNC (601493); Myopathy, myofibrillar, 4 (609452)
Arrhythmogenic right ventricular cardiomyopathy v1.23 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: Arrhythmogenic right ventricular dysplasia, familial, 13 (615616)
Arrhythmogenic right ventricular cardiomyopathy v1.23 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Arrhythmogenic right ventricular cardiomyopathy v1.23 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic right ventricular cardiomyopathy v1.23 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Arrhythmogenic right ventricular cardiomyopathy v1.23 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (609040)
Arrhythmogenic right ventricular cardiomyopathy v1.23 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 (607450) Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 (610476)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Arrhythmogenic right ventricular cardiomyopathy v1.23 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: No OMIM association; HGMD DMD/ARVC
Thoracic aortic aneurysm or dissection v1.89 FOXE3 Rebecca Whittington commented on gene: FOXE3: Kuang et al (J Clin Invest. 2016;126:948 PMID:26854927) describe several variants found in patients with TAAD. All variants associated with TAAD were located in the Forkhead domain. Segregation evidence for two of these variants but incomplete penetrance in that heterozygous male carriers are affected in this study but two heterozygous female carriers are unaffected. 8 family members affected with TAAD - all are male. Suggest FOXE3 mutations lead to reduced numbers of aortic smooth muscle cells and increased smooth muscle cell apoptosis in response to biomechanical stress.
Thoracic aortic aneurysm or dissection v1.89 CBS Rebecca Whittington commented on gene: CBS: Narayanan et al (Int J Physiol Pathophysiol Pharmacol 2013:32 PMID:23525608) - Homocystinuria may present with aortic aneurysm. Decreased expression of Collagens I and IV was observed in CBS+/- mice, analagous to changes seen in TAAD. Gaustadnes et al (HUMAN MUTATION 20:117 2002 PMID:12124992) describes 36 patients with homocystinuria and two variants in CBS. Dislocated lenses and Marfaniod features were reported in many of these patients, with aortic root dilation in one.
Thoracic aortic aneurysm or dissection v1.89 SMAD4 Rebecca Whittington commented on gene: SMAD4: Wain et al 2014 Genet Med 16:588 reviews clinical features of patients with SMAD4 variants and identifies enlarged aortic root in 9% (3 patients) and aortic dissection in one patient. References other publications that refer to a Marfan-like presentation.
Thoracic aortic aneurysm or dissection v1.89 SMAD2 Rebecca Whittington commented on gene: SMAD2: Schepers et al 2018 Hum Mutat 39:621 PMID:29392890 review variants in TGFB2/3 and SMAD2/3 in LDS, listing 6 likely pathogenic variants from this and previous studies. All missense variants to date
Thoracic aortic aneurysm or dissection v1.89 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: Callewaert et al 2008 Hum Mutat 29:150 PMID:17935213 describe bialleleic SLC2A10 variants in 16 affected individuals from 12 families; missense, truncating and large deletion; 5 mutations are recurrent. Heterozygous carriers have normal vasculature (abstract only); Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 also identify heterozygous SLC2A10 variants in Marfan cohort patients with arterial aneurysm/dissection but both variants are VUS.
Thoracic aortic aneurysm or dissection v1.89 SKI Rebecca Whittington commented on gene: SKI: Doyle et al 2012 Nat Genet 44:1249 PMID:23023332 characterise several missense variants which are mostly de-novo and cluster in the SMAD2/3 binding domain and Dachshund-homology domain essential for co-repressor recrutiment. Functional analysis showed loss of repression of TGF-B signalling cascades in patient fibroblasts heterozygous for variants.
Thoracic aortic aneurysm or dissection v1.89 PRKG1 Rebecca Whittington commented on gene: PRKG1: Two disease-causing variants reported to HGMD, both published by Overwater et al 2018 Hum Mutat 39:1143 PMID:29907982 one missense variant and one in-frame deletion of exon 3. No segregation for either variant, but the missense variant c.530G>A p.(Arg177Gln) has been reported elsewhere (Guo et al 2013 Am J Hum Genet 93:398 PMID:23910461) with segregation in 18 affected members of 4 families. Other variants are reported as ?DM on HGMD.
Thoracic aortic aneurysm or dissection v1.89 PLOD1 Rebecca Whittington commented on gene: PLOD1: Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)
Thoracic aortic aneurysm or dissection v1.89 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: Meester et al 2018 Hum Mutat 39:1246 PMID:29924900 Characterisation of variants in Adams-Oliver syndrome missense, nonsense splice and frameshift variants either novel to this publication or also published elsewhere. Multiple variants classified pathogenic/likely pathogenic using ACMG criteria and gnomAD population data using criteria which appear to be stringent. Southgate et al 2015 Circ Cardiovasc Genet 8:572 PMID:25963545 show segregation of NOTCH1 variants in 4 families and de-novo in 3 families and reduction of mRNA levels implying NMD. Both publications list cardiac phenotypes including BAV, co-arctation of the aorta, aortic regurgitation, aortic stenosis and VSD.
Thoracic aortic aneurysm or dissection v1.89 LOX Rebecca Whittington commented on gene: LOX: Guo et al 2016 Circ Res 118:928 PMID:26838787 LOX c.839G>T (p.Ser280Arg) segregates with FTAAD in a large family and other variants also show segregation in other families c.125G>A (p.Trp42*), c.604G>T (p.Gly202*), c.743C>T (p.Thr248Ile), c.800A>C (p.Gln267Pro), and c.1044T>A (p.Ser348Arg). Some (but not all) patients had additional Marfaniod features.
Thoracic aortic aneurysm or dissection v1.89 FLNA Rebecca Whittington commented on gene: FLNA: Chen et al 2018 Am J Med Genet A 176:337 PMID:29334594 examine patients with FLNA for cardiac features and found that 18% had thoracic aortic aneurysm/dilation and 57% had other cardiac abnormalites. This included two patients who died of aortic rupture at aortic diameters smaller than that reccomended for surgery in other aortopathies.
Thoracic aortic aneurysm or dissection v1.89 FBN2 Rebecca Whittington commented on gene: FBN2: Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 5 missense variants identified in Marfan/Marfan-like cohort: 3302A>G Asn1101Ser, 3793G>A Glu1265Lys, 4454A>G Asp1485Gly, 4657C>T Arg1553Cys, 5627G>C Cys1876Ser - all reported as VUS. Callewaert et al 2009 Hum Mutat 30:334 PMID:19006240 review FBN2 variants in contractural arachnodactyly and comment on involvement of aortopathy in phenotype of more recently described cases.
Thoracic aortic aneurysm or dissection v1.89 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: Letard et al 2018 Mol Syndromol 9:190 PMID:30140196 report a severe cutis laxa phenotype in a terminated pregnancy homozygous for an EFEMP2 nonsense variant c.639C>A (p.Cys213*) and review/list previously reported EFEMP2 variants. 0.00041% gnomAD (AR association).
Thoracic aortic aneurysm or dissection v1.89 ACTA2 Rebecca Whittington commented on gene: ACTA2: Recent review: Milewicz et al 2017 Arterioscl Thromb Vasc Biol 37:26 PMID:27879251
Thoracic aortic aneurysm or dissection v1.89 ZNF469 Rebecca Whittington commented on gene: ZNF469: Rohrbach et al 2013 Mol Genet Metab 109:289 PMID:23680354 describe two homozygous and one heterozygous patient - all variants are truncating. One patient has mitral valve prolapse and mild mitral regurgitation with a normal aortic root diameter. Variants also identified in 15 affected members of 10 families from a previously described cohort (Al-Hussain et al 2004 Am J Med Genet A 124A:28 PMID:14679583 - no mention of any cardiac phenotype).
Thoracic aortic aneurysm or dissection v1.89 TNXB Rebecca Whittington commented on gene: TNXB: Demirdos et al 2017 Clin Genet 91:411 PMID:27582382 17 patients of 11 families with autosomal recessive inheritance and childhood onset. 12 different mutations were detected, most of which are suspected to lead to NMD. Abstract only (no mention of cardiac phenotype in abstract). Several publications reviewed but no mention of cardiac phenotype.
Thoracic aortic aneurysm or dissection v1.89 MFAP5 Rebecca Whittington commented on gene: MFAP5: Barbier et al 2014 Am J Hum Genet 95:736 PMID:25434006 describe one missense variant c.62G>T (p.Trp21Leu) (MAF 0.0036% 10 alleles - quite high) and one nonsense variant (in final exon) c.472C>T (p.Arg158*) (MAF 0.0045% 11 alleles) in patients with syndromic/non-syndromic thoracic aortic aneurysm and dissections and no previous genetic diagnoisis. The nonsense variant segregates in 4 affected family members (also present in one unaffected 83 year-old and two family members with ambiguous phenotypes - incomplete penetrance?) and the missense variant in two affected family members (plus one younger family member with ambigous phenotype). Functional studies on aortic tissue (following surgery) from the missense variant showed disorganisation of the tunica media with loss of smooth muscle cells and showed enhanced TGF-b signaling in patient compared to healthy aorta. Schubert et al 2016 Am J Med Genet A 170A:1288 PMID:26854089 indentified an additional MFAP5 variant in a TAA cohort - patient also as an MYLK variant. Both missense and classified as VUS. MFAP5 variant is c.341G>A p.Arg114Gln (MAF ASJ 0.34% (56 alleles)) and has stronger supporting BI than the MYLK variant.
Thoracic aortic aneurysm or dissection v1.89 LTBP2 Rebecca Whittington commented on gene: LTBP2: Haji-Seyed-Javadi et al 2012 Hum Mutat 33:1182 PMID:22539340 identified homozygous c.3529G>A (p.Val1177Met) in a patient with Weill-Marchesani syndrome and c.1642C >T (p.Arg548*) in a patient with Marfan syndrome. They comment that p.Arg548* may be contributing to MFS-related phenotypes but is not responsible for the MFS in that patient (abstract only). Two other variants associated with MFS on HGMD but these are in unavailable conference abstract. Don't think sufficient evidence for this gene.
Thoracic aortic aneurysm or dissection v1.89 KCNN1 Rebecca Whittington commented on gene: KCNN1: Kim et al 2013 J Hum Genet 58:521 PMID:23677057 KCNN2 identified as a susceptiblity locus for coronary artery aneurysms in GWAS study
Thoracic aortic aneurysm or dissection v1.89 HNRNPK Rebecca Whittington commented on gene: HNRNPK: Au et al 2018 Eur J Hum Genet 26:1272 PMID:29904177 summarise a total of 9 patients with de novo LoF variants in NHRNPK, one with a de novo missense variant and 3 with de novo large deletions including HNRNPK in Au-Kline syndrome (abstract only)
Thoracic aortic aneurysm or dissection v1.89 FKBP14 Rebecca Whittington commented on gene: FKBP14: 6 variants described on ClinVar missense and truncating: Giunta et al 2018 Genet Med 20:42 PMID:28617417 describe 17 affected patients from 15 families all are homozygous for a total of 4 different pathogenic variants. A summary of this and a previous publication show that 6/20 patients have vascular abnormalities. This publication includes one patient with coronary artery dissection, one with a dilated aorta and one with borderline aortic root diameter. Baumann et al 2012 Am J Hum Genet 90:201 PMID:22265013 describe 6 patients from 5 families who are homozygous or compound heterozygous for FKBP14 variants and have some supporting functional work in FKBP14 deficient fibroblasts. One patient has aortic rupture.
Thoracic aortic aneurysm or dissection v1.89 FBLN5 Rebecca Whittington commented on gene: FBLN5: Callewaert et al 2013 Hum Mutat 34:111 PMID:22829427 describe one missense and one nonsense variant c.649T>C p.Cys217Arg; c.1171G>T p.Glu391X (both homozygous in consanguineous families) but do not report segregation or functional analysis for either variant, but both had significant family history; p.Cys217Arg has previously been reported elsewhere. Hu et al 2006 Hum Mol Genet 15:3379 PMID:17035250 carried out functional analysis on two missense variants including Cys217Arg and have shown fibulin-5 is absent in skin from a homozygous p.ser227Pro patient with resulting disorganisation of elastic fibres. Loeys et al 2002 11:2113 PMID:12189163 characterised the Ser224Pro variant in 4 homozygous affected members of a large consangineous family - segregation data.
Thoracic aortic aneurysm or dissection v1.89 COL2A1 Rebecca Whittington commented on gene: COL2A1: Hoornaert et al 2010 Eur J Hum Genet 18:872 PMID:20179744 review genotype/phenotype correlations in 100 Stickler syndrome patients with mutations in COL2A1 and make no mention of any cardiac phenotype, so this is unlikely to be a significant feature of this syndrome.
Thoracic aortic aneurysm or dissection v1.89 CHST14 Rebecca Whittington commented on gene: CHST14: Janecke et al 2016 Am J Med Genet A 170A:103 PMID:26373698 describe novel and recurrent missense and truncating variants in AR musculocontractural EDS. EDS phenotype with heart valve abnormalities in >50% of individuals and CHD occasionally present.
Thoracic aortic aneurysm or dissection v1.89 ALDH18A1 Rebecca Whittington commented on gene: ALDH18A1: Publications support role for this gene in a cutis laxa phenotype, e.g. Fischer-Zernsak et al (Am J Hum Genet 2015 97:483 PMID:26320891) which shows 3 different de novo variants affecting the same nucleotide in 8 families with a progeroid presentation of AD cutis laxa. No aortic involvement so insufficient to justify inclusion on panel unless overlapping features with relevant diseases is considered.
Thoracic aortic aneurysm or dissection v1.89 ABCC6 Rebecca Whittington commented on gene: ABCC6: Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.
Thoracic aortic aneurysm or dissection v1.89 PKD1 Rebecca Whittington commented on gene: PKD1: Silverio et al (Nephrology 2015 20:229 PMID:25476912) report on aortic disease in patients with ADPKD. Review of publications where both ADPKD and aortic disease were both present but no mention of genetic associations apart from mentioning that PKD1 and PKD2 cause ADPKD. Patients described in publication also had other marfaniod features. Qiu and Yu (J Cardiovasc Dis & Diag 2013 10.4172 PMID:not found) review the role of PKD1 and PKD2 in cardiovascular systems and describe association with mainly intracranial aneurysms - aortic aneurysm seems less frequent.
Thoracic aortic aneurysm or dissection v1.89 MED12 Rebecca Whittington commented on gene: MED12: Khan et al 2016 Clin Med Insights Case Rep 9:115 describes this as being an intellectual disability syndrome with Marfanoid features. Patient has variant c.3020A>G p.Asn1007Ser, which has been reported several times with functional studies. This patient does not have aortic involvement and review of literature suggests that intellectual disability and Marfaniod body habitus are usual features with this variant and not aortic.
Thoracic aortic aneurysm or dissection v1.89 FLCN Rebecca Whittington commented on gene: FLCN: Liu et al 2017 Orphanet J Rare dis 12:104 PMID:28558743 characterise several FLCN variants in a chinese Birt-Hogg-Dube cohort and comment on comparision with mutations found in Western cohorts, but do not mention any cardiac involvement
Thoracic aortic aneurysm or dissection v1.89 COL1A2 Rebecca Whittington commented on gene: COL1A2: Schwarze et al 2004 Am J Hum Genet 74:917 PMID:15077201 identified truncating variants - splice variants affecting +/-1 position (compound heterozygous) and nonsense (homozygous) that lead to disease through NMD.
Thoracic aortic aneurysm or dissection v1.89 COL1A1 Rebecca Whittington commented on gene: COL1A1: Weerakkody et al 2016 Genet Med 18:1119 PMID:27011056 is one of several publications identifying variants in COL1A1 in EDS patients. One frameshift and two missense (affecting glycine in the G-X-Y collagen triple-helix motif) variants are described: c.1265delG: p.Gly422AlafsX119; c.643G>A: p.Gly215Ser; c.662G>C: p.Gly221Ala. None of these have any gnomAD frequency.
Thoracic aortic aneurysm or dissection v1.89 BGN Rebecca Whittington commented on gene: BGN: Meester et al 2017 Genet Med 19:386 PMID:27632686 report one nonsense, two missense and two large deletions affecting multiple exons of BGN but no additional genes. Nonsense variant c.5G>A, p.Trp2* with no gnomAD freq, seg in two affected family members and 2 ClinVar submissions as pathogenic. Missense variants c.908A>C, p.Gln303Pro and c.238G>A,p.Gly80Ser both with no gnomAD freq and 2 ClinVar submissions as pathogenic.
Thoracic aortic aneurysm or dissection v1.89 ABL1 Rebecca Whittington commented on gene: ABL1: Wang et al 2017 Nat Genet 49:613 PMID 28288113 describe two variants: c.734A>G (p.Tyr245Cys) found de novo in 5 individuals from 3 families (segregates with disease in two affected individuals from each of 2 families) and c.1066G>A (p.Ala356Thr) found de novo in a single family. Both variants are well conserved and affect the kinase domain. Neither have any gnomAD frequency and both are reported as pathogenic by more than one source on ClinVar.
Short QT syndrome v1.9 SCN5A Rebecca Whittington commented on gene: SCN5A: Does not appear to be associated with SQT on OMIM and HGMD
Short QT syndrome v1.9 CACNB2 Rebecca Whittington commented on gene: CACNB2: 1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503
Short QT syndrome v1.9 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 1 variant associated with SQT on HGMD. Also reported in controls 22840528. Some functional characterisation 29016797
Short QT syndrome v1.9 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: 1 variant associated with SQT on HGMD
Short QT syndrome v1.9 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Not associated with SQT
Short QT syndrome v1.9 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: 2 reported variants on HGMD 15159330 , with functional studies 26168993, 28814790
Short QT syndrome v1.9 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: 1 report associated with LQT. 28609477
Short QT syndrome v1.9 KCNH2 Rebecca Whittington commented on gene: KCNH2: Multiple DM variants on HGMD with functional studies.
Short QT syndrome v1.9 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Not associated with SQT
Progressive cardiac conduction disease v0.17 ANK2 Rebecca Whittington commented on gene: ANK2: Can be associated with Bradycardia. 27785597 - 1 report on HGMD
Progressive cardiac conduction disease v0.17 GJA5 Rebecca Whittington commented on gene: GJA5: Pubmed: 25426816. Connexin. Involved in the normal propagation of the electrical impulse in the specialized cardiac conduction system. 1 family with variant and familial heart block.
Progressive cardiac conduction disease v0.17 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX3 Rebecca Whittington commented on gene: TBX3: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX5 Rebecca Whittington commented on gene: TBX5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 EMD Rebecca Whittington commented on gene: EMD: As with LMNA - reports of individuals with a EMD variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 DES Rebecca Whittington commented on gene: DES: As with LMNA - reports of individuals with a DES variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 LMNA Rebecca Whittington commented on gene: LMNA: PMID: 27884249; 23912926: reports of individuals with a LMNA variant who had a conduction defect as an isolated finding. Cardiomyopathy phenotype developed late in some (few) relatives as a later feature.
Progressive cardiac conduction disease v0.17 HCN4 Rebecca Whittington commented on gene: HCN4: Atrial fibrillation, Bradycardia & left ventricular noncompaction cardiomyopathy; Sick Sinus Syndrome on HGMD, numerous reports. Pubmed - 28104484
Progressive cardiac conduction disease v0.17 TRPM4 Rebecca Whittington commented on gene: TRPM4: In cellular expression systems, mutant TRPM4 channels produce a larger current than wt (GoF). 4 families identified. Hypothesised GoF mutant channels lead to cell membrane depolarisation in the conduction system, therefore reducing number of Na channels and resulting in conduction abnormality. Functional experiments expressing these three mutant variants of TRPM4 suggested a similar gain-of-function phenomenon related to altered deSUMOylation 21887725. 20562447
Progressive cardiac conduction disease v0.17 SCN5A Rebecca Whittington commented on gene: SCN5A: Pubmed: 25426816. Main gene involved in PCCD. at least 16 distinct mutations in SCN5A have been found to cause conduction alterations and block in patients and their families. The vast majority of these mutations, when functionally characterized, reduced the sodium current, thereby leading to a loss of function consistent with the slowed cardiac conduction observed in patients.
Progressive cardiac conduction disease v0.17 SCN1B Rebecca Whittington commented on gene: SCN1B: Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Progressive cardiac conduction disease v0.17 KCNK17 Rebecca Whittington commented on gene: KCNK17: PCCD patient with idiopathic ventricular fibrillation, whole exome sequencing identified a missense mutation G88R, in the gene KCNK17, which codes for the potassium channel TASK-4. This mutation led to a gain of function of the TASK-4-mediated current and may, similarly to the gain-of-function mechanisms proposed for TRPM4 24972929
Long QT syndrome v1.25 SCN4B Rebecca Whittington commented on gene: SCN4B: Looks to be evidence in the Medeiros-Domingo paper (PMID 17592081) of a variant that tracked in a family, not on GnomAD and also functional evidence. PMID: 23631430. PMID: 23604097.
Long QT syndrome v1.25 RYR2 Rebecca Whittington commented on gene: RYR2: Gene associated With CPVT mainly but reported with LQT cases (PMID 26132555). PMID: 21126784. http://www.avidscience.com/wp-content/uploads/2017/07/update-on-the-genetic-basis-of-long-qt-syndrome.pdf. https://www.ahajournals.org/doi/abs/10.1161/circ.134.suppl_1.20155.
Long QT syndrome v1.25 NOS1AP Rebecca Whittington commented on gene: NOS1AP: Not enough evidence for this gene. PMID:26132555. PMID: 20538168.
Long QT syndrome v1.25 KCNE3 Rebecca Whittington commented on gene: KCNE3: No evidence for LQT - ? some evidence assoc with Brugada. PMID:19122847. PMID: 22987075. PMID 19306396.
Long QT syndrome v1.25 CAV3 Rebecca Whittington commented on gene: CAV3: Not a definitive link for this gene and LQT. May need Clinical input to rule out. PMID:26132555. PMID:17275750. PMID: 24021552. PMID: 17060380.
Long QT syndrome v1.25 CALM1 Rebecca Whittington commented on gene: CALM1: Evidence associated with CPVT primarily. Reported de novo variant in 6 year old boy (PMID: 28491771) with LQT but phenotype not clear (need clinical input). Other paper with strong de novo CALM1 variant in child with LQT and cardiac arrest (PMID:27374306). PMID 23388215.
Long QT syndrome v1.25 AKAP9 Rebecca Whittington commented on gene: AKAP9: No definitive evidence. Although listed on HGMD as associated with LQT - the evidence is not there to back it up. PMID:23174487. PMID:26132555. PMID: 249981977.
Long QT syndrome v1.25 SNTA1 Rebecca Whittington commented on gene: SNTA1: Rare LQT susceptibility gene - see Ueda paper for ? functional evidence. PMID:19684871. PMID:18591664. 23376825
Long QT syndrome v1.25 SCN5A Rebecca Whittington commented on gene: SCN5A: Established LQT gene - numerous literature evidence. PMID:23098067. PMID: 19716085. PMID: 15840176. https://www.sciencedirect.com/science/article/pii/S097262921730178X.
Long QT syndrome v1.25 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915.
Long QT syndrome v1.25 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Literature evidence includes a large Chinese Pedigree. PMID:20560207. PMID:25322277. PMID: 24574546.
Long QT syndrome v1.25 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.
Long QT syndrome v1.25 KCNH2 Rebecca Whittington commented on gene: KCNH2: Literature/functional evidence for this established LQT gene. PMID:28749435. PMID:19716085. PMID: 22429796.
Long QT syndrome v1.25 KCNE2 Rebecca Whittington commented on gene: KCNE2: Literature/functional evidence for this gene. PMID:19716085. PMID:27465075. PMID:20042375.
Long QT syndrome v1.25 KCNE1 Rebecca Whittington commented on gene: KCNE1: Lots of literature evidence for this gene. Possible milder phenotype. PMID:19716085. PMID: 17341399. PMID: 14499862.
Long QT syndrome v1.25 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Literature and functional evidence for this gene. PMID: 25633834. PMID:30023270. PMID:27390944. PMID 24728418.
Long QT syndrome v1.25 ANK2 Rebecca Whittington commented on gene: ANK2: Does not look like classic LQT, patients that have variants sometime asymptomatic. Some variants reported are too frequent.PMID:26132555. PMID: 16253912. PMID: 17242276. PMID:15178757.
Long QT syndrome v1.25 CALM3 Rebecca Whittington commented on gene: CALM3: Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456
Long QT syndrome v1.25 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see PMID: 24917665. PMID:26969752. PMID 23388215.
Long QT syndrome v1.25 ALG10 Rebecca Whittington commented on gene: ALG10: No evidence for this gene to include. PMID:15280551
Hypertrophic cardiomyopathy v1.52 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.
Hypertrophic cardiomyopathy v1.52 TTR Rebecca Whittington commented on gene: TTR: 29567486 /28369730: HCM phenocopy. OMIM 105210 - hereditary, transthyretin-related Amyloidosis: cardiomyopathy associated with phenotype. Few DM variants on HGMD associated with cardiomyopathy, HCM only are VUS. 28635949: specific cardiac variants in this gene.
Hypertrophic cardiomyopathy v1.52 FLNC Rebecca Whittington commented on gene: FLNC: 28369730: Strong evidence, but relatively high frequency of rare variants in population (3.2%). Further characterisation required. 28356264 Gomez 2016 (Circ Cardiovasc Genet. 2017;10:e001584. DOI: 10.1161/CIRCGENETICS.116.001584.) : 6 LP variants in 7 patients. Classification based on ACMG and segregation.
Hypertrophic cardiomyopathy v1.52 ACTN2 Rebecca Whittington commented on gene: ACTN2: Reported to segregate in relatively large pedigrees, but LOD score <3. Moderate evidence: 28082330. Classified as a core HCM gene: 29567486
Hypertrophic cardiomyopathy v1.52 TPM1 Rebecca Whittington commented on gene: TPM1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNT2 Rebecca Whittington commented on gene: TNNT2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNI3 Rebecca Whittington commented on gene: TNNI3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNC1 Rebecca Whittington commented on gene: TNNC1: Troponin complex. Multiple reports to HGMD, a lot of functional evidence but does not appear to be any segregation. Classified as a main HCM causing gene in: 28369730. Weak evidence for primary pathogenic role: 28082330 - ?modifier. Minor HCM gene - 28790153. Termed core gene: 29567486
Hypertrophic cardiomyopathy v1.52 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 PLN Rebecca Whittington commented on gene: PLN: Rare HCM gene - strong evidence 28082330 for primary role. Only 3 missense variants on HGMD as LP does not appear to be segregation (27532257; 26573135). 2 regulatory variants - 16829191 with some functional work.
Hypertrophic cardiomyopathy v1.52 MYL3 Rebecca Whittington commented on gene: MYL3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYL2 Rebecca Whittington commented on gene: MYL2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYH7 Rebecca Whittington commented on gene: MYH7: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 LAMP2 Rebecca Whittington commented on gene: LAMP2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 FHL1 Rebecca Whittington commented on gene: FHL1: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 CSRP3 Rebecca Whittington commented on gene: CSRP3: Rare HCM gene. Strong evidence: 28082330. Well established gene
Hypertrophic cardiomyopathy v1.52 ACTC1 Rebecca Whittington commented on gene: ACTC1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TRIM63 Rebecca Whittington commented on gene: TRIM63: Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.
Hypertrophic cardiomyopathy v1.52 TMEM70 Rebecca Whittington commented on gene: TMEM70: DOI: 10.1016/j.ymgme.2014.01.001 - HCM key feature of AR disease.
Hypertrophic cardiomyopathy v1.52 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Four DM variants on HGMD with two references: Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 and Osio (2007) Circ Res 100: 766 PubMed: 17347475. Mouse model generated using a couple of missesnse variants detected and suggest involvement in HCM: Ruggiero (2013) Cardiovasc Res 97: 44 PubMed: 22987565. May be a rare cause of disease. 1 of these variants has been downgraded to a VUS given MAF. Insuffient evidence, no segregation.
Hypertrophic cardiomyopathy v1.52 MYOM1 Rebecca Whittington commented on gene: MYOM1: HGMD: 8 DM variants listed all but one with HCM (the 8th variant assoc with DCM) Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 lists some of these variants. All missense. Bottillo (2016) Gene 577: 227 PubMed: 26656175 .
Hypertrophic cardiomyopathy v1.52 VCL Rebecca Whittington commented on gene: VCL: Reports on HGMD are VUS (2 downgraded)
Hypertrophic cardiomyopathy v1.52 TTN Rebecca Whittington commented on gene: TTN: Limited evidence for HCM
Hypertrophic cardiomyopathy v1.52 TSFM Rebecca Whittington commented on gene: TSFM: AR Multisystemic disorder which a feature can be HCM. https://omim.org/clinicalSynopsis/610505
Hypertrophic cardiomyopathy v1.52 TCAP Rebecca Whittington commented on gene: TCAP: 6 cases on HGMD, only 2 DM reported 15582318. 1 of these has since been reclassified as LB. 28518168
Hypertrophic cardiomyopathy v1.52 SOS1 Rebecca Whittington commented on gene: SOS1: Rasopathy gene. https://omim.org/clinicalSynopsis/610733. HCM and stenosis can be a key feature as shown in OMIM.
Hypertrophic cardiomyopathy v1.52 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: AR mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SHOC2 Rebecca Whittington commented on gene: SHOC2: Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721.
Hypertrophic cardiomyopathy v1.52 SCO2 Rebecca Whittington commented on gene: SCO2: BGL - No variants detected: https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Hypertrophic cardiomyopathy v1.52 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also. No evidence for HCM
Hypertrophic cardiomyopathy v1.52 PTPN11 Rebecca Whittington commented on gene: PTPN11: Some patients may have HCM
Hypertrophic cardiomyopathy v1.52 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence. Does not appear to be associated with HCM.
Hypertrophic cardiomyopathy v1.52 NRAS Rebecca Whittington commented on gene: NRAS: Rasopathy gene. In HGMD mainly associated with Noonans/Costello syndrome
Hypertrophic cardiomyopathy v1.52 MYO6 Rebecca Whittington commented on gene: MYO6: 1 report of HCM with deafness. 15060111
Hypertrophic cardiomyopathy v1.52 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No evidence
Hypertrophic cardiomyopathy v1.52 MRPL3 Rebecca Whittington commented on gene: MRPL3: HGMD - 1 DM variant assoc with AR HCM. Only one paper: Galmiche (2011) Hum Mutat 32: 1225 PubMed: 21786366 .
Hypertrophic cardiomyopathy v1.52 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: 30 DM variants on HGMD - mainly associated with cardio-facio-cutaneous syndrome.
Hypertrophic cardiomyopathy v1.52 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Rasopathy gene. Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello syndrome.
Hypertrophic cardiomyopathy v1.52 LMNA Rebecca Whittington commented on gene: LMNA: 1 report on HGMD associated with HCM, other cardiomyopathy phenotypes described
Hypertrophic cardiomyopathy v1.52 LDB3 Rebecca Whittington commented on gene: LDB3: 1 report on HGMD associated with HCM
Hypertrophic cardiomyopathy v1.52 KLF10 Rebecca Whittington commented on gene: KLF10: 6 DM variants on HGMD reported in , but 3 reduced pathogenicity following subsequent review. (pubmed 22234868, 30165862, 23299917)
Hypertrophic cardiomyopathy v1.52 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Arrhythmia gene
Hypertrophic cardiomyopathy v1.52 HRAS Rebecca Whittington commented on gene: HRAS: Listed in many panels. OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own.
Hypertrophic cardiomyopathy v1.52 GUSB Rebecca Whittington commented on gene: GUSB: Patients with cardiac arrest and HCM described on OMIM, but not a key feature or presenting feature.
Hypertrophic cardiomyopathy v1.52 GLB1 Rebecca Whittington commented on gene: GLB1: OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few of the pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key feature
Hypertrophic cardiomyopathy v1.52 GAA Rebecca Whittington commented on gene: GAA: Cardiomyopathy is a feature in the infantile forms of Pompe disease :Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.
Hypertrophic cardiomyopathy v1.52 FXN Rebecca Whittington commented on gene: FXN: 1 report associated
Hypertrophic cardiomyopathy v1.52 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficency has HCM.
Hypertrophic cardiomyopathy v1.52 CRYAB Rebecca Whittington commented on gene: CRYAB: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Hypertrophic cardiomyopathy v1.52 COA5 Rebecca Whittington commented on gene: COA5: AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908. Homozygous varaints associated with neonatal cardiomyopathy.
Hypertrophic cardiomyopathy v1.52 CAV3 Rebecca Whittington commented on gene: CAV3: OMIM association with LQT9. Limited evidence for disease association. HGMD reports in association with several disorders including 2 DM variants in HCM (26656175,14672715) . Main association rippling muscle disease and LGMD. A few associated with LQT.
Hypertrophic cardiomyopathy v1.52 CASQ2 Rebecca Whittington commented on gene: CASQ2: ON HGMD assoc with CPVT and ventricular tachycardia (Good evidence).
Hypertrophic cardiomyopathy v1.52 CALR3 Rebecca Whittington commented on gene: CALR3: HGMD: 2 x DM variants associated with HCM; Chiu (2007) J Mol Cell Cardiol 43: 337 PubMed: 17655857 - both variants reported here are reported in ESP population.
Hypertrophic cardiomyopathy v1.52 CACNA1C Rebecca Whittington commented on gene: CACNA1C: HGMD - 1 variant described with HCM Pubmed: 24183960
Hypertrophic cardiomyopathy v1.52 BRAF Rebecca Whittington commented on gene: BRAF: Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.
Hypertrophic cardiomyopathy v1.52 ATP5E Rebecca Whittington commented on gene: ATP5E: Not listed on HGMD, OMIM: 1 nonsense variant and associated with mitochondrial disease, patient has HCM: Mayr Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.
Hypertrophic cardiomyopathy v1.52 AGL Rebecca Whittington commented on gene: AGL: Assoc with AR glycogen storage disease - cardiomyopathy can be a key feature and age of onset is broad range - can be undefined myopathy: https://omim.org/clinicalSynopsis/232400.
Hypertrophic cardiomyopathy v1.52 ACADVL Rebecca Whittington commented on gene: ACADVL: BGL: 5 variants detected all heterozygous. 2 LP or P. Just for paediatric panel due to BioMet guidelines. OMIM: can be key feature associated with cardiomyopathy and sudden death - infantile.
Hypertrophic cardiomyopathy v1.52 NEXN Rebecca Whittington commented on gene: NEXN: Functional data only 28369730. Included as a minor HCM gene in 28790153. 2 pathogenic variants reported to HGMD associated with HCM: 20970104 - 1 MAF 0.6%, other present in 2 alleles. Lots of VUS.
Hypertrophic cardiomyopathy v1.52 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. MYPN mutations cause either a cardiac (AD) or a congenital skeletal muscle disorder (AR) through different modes of inheritance pUBMED 28220527. Functional evidence only - 28082330, 28369730
Hypertrophic cardiomyopathy v1.52 MYLK2 Rebecca Whittington commented on gene: MYLK2: HGMD: 4 variants listed as DM all associated with HCM. 1 x nonsense, but seen with other variants in a sudden death case: Suktitipat (2017) PLoS One 12: e0180056 PubMed: 28704380. Functional evidence only according to: 10.1093/eurheartj/ehw603. Limited segregation evidence
Hypertrophic cardiomyopathy v1.52 JPH2 Rebecca Whittington commented on gene: JPH2: Weak evidence for primary role in pathogenicity: 28082330. Insufficient evidence, no supporting segregation, despite functional assays. PMID: 28393127 - a novel variant identified in a proband with significant basal septal hypertrophy. Neither parents were genotyped. his mutation was absent in 159,358 reference alleles. Variants in in MYH7, MYBPC3, MYL2, MYL3, TTNT2, TTNI3, TNNC1, TPM1, ACTC, PRKAG2, GLA, and LAMP2 genes, were excluded in this patient. Mice with this variant exhibit similar basal hypertrophy using a newly developed echo imaging plane, and this was confirmed using cardiac MRI. Histological analysis demonstrated cardiomyocyte hypertrophy and disarray consistent with HCM. 3 additional missense variants reported in 3 cases in PMID: 17509612 (2007), however another missense variant Gly550Ser in this gene has been reclassified as unknown pathogenic significance, due to presence in allele frequency databases. HGMD: 8 DM variants - 3 DCM rest HCM. Functional studies shown an effect in JPH2 but no variants with evidence of segregation. 10.1093/eurheartj/ehw603
Hypertrophic cardiomyopathy v1.52 DES Rebecca Whittington commented on gene: DES: 3 DM variants associated with HCM on HGMD. Pubmed: 29167554, 29907873 with mixed phenotypes. Functional characterisation in 1 variant 21262226, 17221859
Hypertrophic cardiomyopathy v1.52 ACTA1 Rebecca Whittington commented on gene: ACTA1: Tadokoro 2018 (Journal of the Neurological Sciences 393 (2018) 142144: 1) patient but presented case series of 7 patients presenting with myopathy and 2 had DCM five others had HCM, all childhood onset so needs to be on paediatric panel. 15520409 (2004) shows segregation of variants with disease in two multi generational families.
Hypertrophic cardiomyopathy v1.52 MYH6 Rebecca Whittington commented on gene: MYH6: No - Cardiomyopathy, dilated, 1EE OMIM 613252 . Inheritance unknown (OMIM) Weak evidence according to 28082330. Not listed in 28369730
Dilated Cardiomyopathy and conduction defects v1.54 XK Rebecca Whittington commented on gene: XK: https://omim.org/clinicalSynopsis/300842 - 60% of patients have DCM and AF. R Many pathogenic variants reported on HGMD. Appears that DCM may be a key feature but may not be a presenting feature
Dilated Cardiomyopathy and conduction defects v1.54 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: Sibbing Eur Heart J.2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. ?Mouse model and three DCM patients with missense variants. HGMD 3 variants assoc with DCM, including Sibbing and Dal Ferro. some freq in GnomAD for these variants.
Dilated Cardiomyopathy and conduction defects v1.54 TTR Rebecca Whittington commented on gene: TTR: Usually more LVH asssociated with late onset amyeloidosis but in our patient the TTN variant may have modifying the phenotype. Many pathogenic variants detected and some specifically with cardiac features: Iorio et al (2017) Eur J Hum Genet 25:1055.
Dilated Cardiomyopathy and conduction defects v1.54 TMPO Rebecca Whittington commented on gene: TMPO: Taylor 2005 Hum Mutat 26(6), 566574, 2005.1 variant but high freq and adult onset.
Dilated Cardiomyopathy and conduction defects v1.54 TMEM43 Rebecca Whittington commented on gene: TMEM43: HGMD: five variants three ?DM through Walsh 2017 and 2 DM through Dal Ferro 2017. Not strong evidence
Dilated Cardiomyopathy and conduction defects v1.54 SYNE2 Rebecca Whittington commented on gene: SYNE2: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380.
Dilated Cardiomyopathy and conduction defects v1.54 SYNE1 Rebecca Whittington commented on gene: SYNE1: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380. 3 missense variants detected in SYNE1 assoc with DCM, functional studies undertaken but no family studies: Zhou Human Molecular Genetics, 2017, Vol. 26, No. 12.
Dilated Cardiomyopathy and conduction defects v1.54 RYR2 Rebecca Whittington commented on gene: RYR2: HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Variants mainly assoc with HCM. HGMD: 3 variants assoc with DCM: 1 x Lu 2017 (Lu et al. J Transl Med (2018) 16:241) - VUS using ACMG. 2 x on LMM data(Walsh 2017) one has probably too high freq and also reported in LVNC, other variant no freq.
Dilated Cardiomyopathy and conduction defects v1.54 PRDM16 Rebecca Whittington commented on gene: PRDM16: HGMD - DCM, LVNC and sudden death. Only 7 /21 variants classed as DM on HGMD, rare cause? 5 truncating variants on HGMD assoc with DCM or LVNC eg Meng (2017) ( JAMA Pediatr 171: 173438 PubMed: 28973083) de novo nonsense in a child in intensive care not clear if patient has DCM. Arndt (2013) Am J Hum Genet 93, 67) Seven variants detected four have freq, the two truncating variants look like they are pathogenic along with one missense but all are assoc with LVNC rather than DCM. This evidence was refuted by de Leeuw (2014) Am J Hum Genet 94: 153 PubMed: 24387995.
Dilated Cardiomyopathy and conduction defects v1.54 PKP2 Rebecca Whittington commented on gene: PKP2: HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.
Dilated Cardiomyopathy and conduction defects v1.54 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence: Pashmforoush M et al (2001). Adult mice deficient in actin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7(5):591-7. HGMD - 2 truncating variants detected with DCM, Haas 2015 - listed as a candidate variant with no other evidence and Arola 2017 ( Arola (2007) Mol Genet Metab 90, 435): 1 patient with a frameshift variant - patient presented in pregnancy and died a year later, mother may have had AVB but no family studies reported - this variant has 9 alleles listed on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 NEBL Rebecca Whittington commented on gene: NEBL: Literature: Purevjav J Am Coll Cardiol. 2010 October 26; 56(18): 14931502 - a number of variants assoc with DCM and mouse models but high frequency in GnomAD. Perrot 2016: Arch Med Sci 2016; 12, 2: 263278, six variants reported and expanded phenotype to HCM and LVNC. Three have frequencies higher than expected for disease causing variant. HGMD: Nine variants assoc DCM, only 3 classed as DM - two of these have high freq and we have down graded to LB. No segregation as far as I can see.
Dilated Cardiomyopathy and conduction defects v1.54 MYL3 Rebecca Whittington commented on gene: MYL3: 26 variants listed as DM on HGMD, 1 assoc with DCM: Zhao 2015 Int J Mol Med. 2015 Dec;36(6):1479-86. doi: 10.3892/ijmm.2015.2361 - 1 variant assoc with DCM no freq but weak BI. Epub 2015 Oct 7.
Dilated Cardiomyopathy and conduction defects v1.54 MYL2 Rebecca Whittington commented on gene: MYL2: 48 DM variants listed on HGMD -including in Walsh 2017. Also Alfares (2015) Genet Med 17: 880 PubMed: 25611685. Mainly HCM. 2x DCM reported from Walsh as VUS.GOOGLE: Huang 2015 (FEBS J. 2015 June ; 282(12): 23792393. doi:10.1111/febs.13286.) identified a variant tracking with DCM in 3 family members and functional studies support pathogenicity, no freq on GnomAD and a follow up paper by Yang PNAS March 6, 2018 115 (10) E2338-E2347 undertook functional studies of this variant in mice. Weterman 2013 Brain 2013: 136; 282293- suggest a homozygous MYL2 was found tracking with disease with muscle fibre disease and DCM - also an Italian patient with similar features was compound het for variants in this gene. Summary: Not so much evidence in HGMD but google - 1 paper with a variant tracking with disease with functional studies and a follow up paper with a mouse model. then some evidence of AR muscle and DCM phenotype in two papers.
Dilated Cardiomyopathy and conduction defects v1.54 LAMP2 Rebecca Whittington commented on gene: LAMP2: 90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257
Dilated Cardiomyopathy and conduction defects v1.54 LAMA4 Rebecca Whittington commented on gene: LAMA4: HGMD: 11 variants assoc with DCM on HGMD only 3 classed as pathogenic - two in Knoll 2007, both have some functional studies. Six variants from Walsh 2017 as VUS. 1 from Marston 2015 assoc with DCM but no further info.
Dilated Cardiomyopathy and conduction defects v1.54 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Five variants assoc with DCM on HGMD they all have some freq - though 4 are <4 alleles on GnomAD, references include Walsh 2017 and Haas 2015 . Lots of evidence on HGMDPro for ARVC.
Dilated Cardiomyopathy and conduction defects v1.54 ILK Rebecca Whittington commented on gene: ILK: HGMD: 2 DM variants in this gene (1 x DCM and 1 x HCM) and 5 associated with DCM overall - 1 x DCM Knoll 2007 - some functional studies to support pathogenicity [1 xHCM. Bottillo (2016) Gene 577: 227 PubMed: 26656175]. Dalin 2017 reports four missense variants assoc with DCM (3 by Haas 2015 as VUS - one also reported in Knoll - has no GnomAD freq). One patient had a previously reported MYBPC3 variant and one had a TTN frameshift variant.
Dilated Cardiomyopathy and conduction defects v1.54 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy
Dilated Cardiomyopathy and conduction defects v1.54 FLNC Rebecca Whittington commented on gene: FLNC: Literature: Begay 2016 2 Italian families with segregation of the same splice variant and a US family with a different splice variant segregating with disease. Western blotting supported evidence of pathogenicity.
Dilated Cardiomyopathy and conduction defects v1.54 FHL2 Rebecca Whittington commented on gene: FHL2: HGMD Only two variants assoc with DCM - both know freq but classed as 3 in Walsh 2017 and Dal Ferro 2017. Also only 2 DM variants assoc with HCM - but some functional studies show downregulation of this gene in HCM: Friedrich (2014) Basic Res Cardiol 109: 451 PubMed: 25358972 FHL2 expression and variants in hypertrophic cardiomyopathy.
Dilated Cardiomyopathy and conduction defects v1.54 FHL1 Rebecca Whittington commented on gene: FHL1: Core HCM gene
Dilated Cardiomyopathy and conduction defects v1.54 EMD Rebecca Whittington commented on gene: EMD: Missense variants in this gene have been detected in patients with DCM, cardiac conduction defects (including heart block) and later onset muscular dystrophy (Ellis et al, 1999) or DCM alone. Mook et al, 2013 - 1 variant VUS Mook ORF, et al. J Med Genet 2013;50:614626. doi:10.1136/jmedgenet-2012-101231. Cuenca et al, 2016 describes a founder EMD mutation in 13 unrelated families with DCM in Teneriefe, the variant has no pop freq on GnomAD. Usually assoc with Emery muscular dystrophy. HGMD: all DM entries assoc with EMD.
Dilated Cardiomyopathy and conduction defects v1.54 DSG2 Rebecca Whittington commented on gene: DSG2: HGMD: 2 variants classed DM with DCM: Garcia-Pavia (2011) Heart 97: 1744 - Four variants in patients with DCM only one classed as pathogenic as frameshift. Walsh 2017 (Walsh (2017) Genet Med 19: 192) - 1 variant VUS -4 which was classed as pathogenic by Elliot 2010 ( Elliott (2010) Circ Cardiovasc Genet 3: 314 ) and NG 2013 (Ng (2013) Circ Cardiovasc Genet 6: 337) but has a freq of 0.0079%. No family studies but two variants identified in patients with a second variant and FH.
Dilated Cardiomyopathy and conduction defects v1.54 DSC2 Rebecca Whittington commented on gene: DSC2: Literature: Dal Ferro 2017 - 1 LP vairant assoc with DCM. Some suggestion that can be associated with DCM but not strong.Though ARVC may present in LV or biventricular and may appear to be DCM. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 DOLK Rebecca Whittington commented on gene: DOLK: AR DCM is a key feature from birth:he second family reported by Kranz et al. (2007) included 2 affected sibs born of consanguineous Turkish parents. In the first sib, ichthyosis congenita with inflammation of the skin was present at birth. At age 5 months, progressive hair loss was nearly complete, with sparse eyelashes and eyebrows. Dilated cardiomyopathy was present from birth and persisted throughout life. Severe muscular hypotonia was present and death occurred at home at age 7 months, most likely from aspiration. A sister showed muscular hypotonia at birth, and progressive dilated cardiomyopathy developed shortly after birth. Lefeber et al (2011) PlosGenet 7(12):e1002427.Infantile to late childhood onset. But teens can be affected - see Lefeber 2011 - case series which segregates with disease - 1 teenage and other cases 9/10 year olds. One case in the lab of a teenager with DCM and two variants in this gene.
Dilated Cardiomyopathy and conduction defects v1.54 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: Seems rare but in HGMD all variants DCM and truncating and in AR DCM: Ucar (2017) JIMD Rep 35: 39 PubMed: 27928778 . May be a rare candiate gene but paediatric onset
Dilated Cardiomyopathy and conduction defects v1.54 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy gene - a few variants found in the lab but main cause of disease is expansion. HGMD - no variant listed with cardiomyopathy
Dilated Cardiomyopathy and conduction defects v1.54 CTF1 Rebecca Whittington commented on gene: CTF1: Only one DM report on HGMD: Erdmann (2000) Hum Mutat 16: 448 PubMed: 11058912 with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171 - variant where func studies undertaken and seen in HCM and DCM has 294 alleles on Gnomad so suggest this is not a pathogenic variant. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. Haas 2015 Four variants listed assoc with DCM but three have quite high freq and the fourth is a nonsense with no freq. Summary: Quite a number of variants reported associated with DCM, just from two studies only 1/5 variants has no freq the other may be too high to be disease causing. Note in Purevjav struggling to tie up c. and p. nomenclature in Alamut in NM_032578.2 as quoted in paper.
Dilated Cardiomyopathy and conduction defects v1.54 CRYAB Rebecca Whittington commented on gene: CRYAB: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Dilated Cardiomyopathy and conduction defects v1.54 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 8. HGMD: 9 DM entries with DCM or HCM (1 with a CHD phenotype). Literature from HGMD: Dalin 2017: missense variants assoc with DCM. 3 variants listed assoc with DCM + a nonsense variant - 2 have ExAC data of 0.04 and 0.02% so may be too high freq. 11 variants listed in this paper in another table all but three have freq data >0.01%. Duboscq-Bidot 2009 - Five DCM families some segregation - probably only 2 informative segregations across five families but minimal data. Functional studies suggest pathogenicity. Moulik 2009 J Am Coll Cardiol. 2009 July 21; 54(4): 325333. 3 vairants in four DCM patients but two have reasonably high freq, no segregation but functional studies - suggest 1.9% of DCM cases and Duboscq-Bidot suggest 2% DCM cases. Not much more recently apart from Dalin where possibly 3 candidate variants
Dilated Cardiomyopathy and conduction defects v1.54 VCL Rebecca Whittington commented on gene: VCL: HGMD: 6/17 variants assoc with DCM listed as DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TTN Rebecca Whittington commented on gene: TTN: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 25% of DCM patients) and Pugh (2014) Genet Med 16, 601. Also refer to Roberts (2015) Sci Transl Med 7: 270ra6.
Dilated Cardiomyopathy and conduction defects v1.54 TPM1 Rebecca Whittington commented on gene: TPM1: GMD: 10/27 variants assoc with DCM classed as DM with some functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNT2 Rebecca Whittington commented on gene: TNNT2: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 3% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNI3 Rebecca Whittington commented on gene: TNNI3: HGMD: 8/14 variants assoc with DCM are DM. Including functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - variants only detected in paediatric cases.
Dilated Cardiomyopathy and conduction defects v1.54 TNNC1 Rebecca Whittington commented on gene: TNNC1: HGMD: 6/11 variants assoc with DCM classed as DM, including the variant in our family. A number of these variants have functional studies. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531 and Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants detected).
Dilated Cardiomyopathy and conduction defects v1.54 TCAP Rebecca Whittington commented on gene: TCAP: HGMD: 8 variants assoc with DCM, all but three are ?DM. Hirtle-Lewis Clin. Cardiol. 36, 10, 628633 (2013) found two clinically significant variants with DCM. Walsh 2017 - two DCM patients with same TCAP variants. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 TAZ Rebecca Whittington commented on gene: TAZ: Paediatric onset disease. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 SGCD Rebecca Whittington commented on gene: SGCD: HGMD: 6 variants all but one ?DM, though a number listed in Walsh through LMM and classified as LP. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants though), Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 SCN5A Rebecca Whittington commented on gene: SCN5A: HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 RBM20 Rebecca Whittington commented on gene: RBM20: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 - mainly in paediatric cases. Also see Wells Circ Cardiovasc Genet. 2013 August ; 6(4): 317326 and Refaat Heart Rhythm. 2012 March ; 9(3): 390396.
Dilated Cardiomyopathy and conduction defects v1.54 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also.
Dilated Cardiomyopathy and conduction defects v1.54 PLN Rebecca Whittington commented on gene: PLN: HGMD: 9 variants assoc with DCM but note appears to overlap of some variants with HCM, 2 x ?DM. All but one variant have multiple literature associated which is quite recent such as Walsh 2017 and Alfares 2015. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. - Note not many variants in these three studies.
Dilated Cardiomyopathy and conduction defects v1.54 NEXN Rebecca Whittington commented on gene: NEXN: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 MYH7 Rebecca Whittington commented on gene: MYH7: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 MYH6 Rebecca Whittington commented on gene: MYH6: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients).
Dilated Cardiomyopathy and conduction defects v1.54 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 (no clearly LP or pathogenic variants).
Dilated Cardiomyopathy and conduction defects v1.54 LMNA Rebecca Whittington commented on gene: LMNA: Core gene . Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 6% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 LDB3 Rebecca Whittington commented on gene: LDB3: HGMD: Four variants assoc with DCM - only one DM. Haas 2015 lists 2 as VUS. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 HFE Rebecca Whittington commented on gene: HFE: Adult onset haemochromatosis.
Dilated Cardiomyopathy and conduction defects v1.54 FKTN Rebecca Whittington commented on gene: FKTN: HGMD: 4 variants 3 x DM but older literature.
Dilated Cardiomyopathy and conduction defects v1.54 EYA4 Rebecca Whittington commented on gene: EYA4: HGMD: 1 x variant assoc with DCM and deafness: Schonberger (2005) Nat Genet 37, 418. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 DSP Rebecca Whittington commented on gene: DSP: HGMD: 52 variants assoc with DCM on HGMD. Many classed as ?DM (many from Walsh 2017). Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 DMD Rebecca Whittington commented on gene: DMD: HGMD: 40 variants listed including CNVs. Only 8 classed as VUS and all missense. 1 x nonsense Pathogenic: Cuenca (2016) J Heart Lung Transplant 35: 625. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531. Review: Nakamura Pharmaceuticals 2015, 8, 303-320; doi:10.3390/ph8020303
Dilated Cardiomyopathy and conduction defects v1.54 DES Rebecca Whittington commented on gene: DES: HGMD: 24 variants assoc DCM - 12 DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 CSRP3 Rebecca Whittington commented on gene: CSRP3: 7 variants on HGMD only two DM. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 - no variants detected, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 BAG3 Rebecca Whittington commented on gene: BAG3: Core gene. HGMD 40 variants listed with DCM only 2 VUS. Many truncating variants.In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 ACTN2 Rebecca Whittington commented on gene: ACTN2: 11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. Note Walsh 2017 classes all variants found in their cohort as VUS. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ACTC1 Rebecca Whittington commented on gene: ACTC1: Reported by Augire et al (2015) PLoS ONE 10(6):e0127903 tracking in six family members with ASD but some DCM also. 12 variants on HGMD - 7 classed as DM in a number of literature reviews including Dal Ferro 2017. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ABCC9 Rebecca Whittington commented on gene: ABCC9: 2 variants in 2004 paper (Bienengraeber M Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21.). 10 variants on HGMD assoc with DCM - only one from the Bienengraeber paper classed as DM but one nonsense classed as LP in Walsh by LMM group. Included in review of DCM genes -Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601)
Dilated Cardiomyopathy and conduction defects v1.54 SGCB Rebecca Whittington commented on gene: SGCB: Listed with LGMD and DCM can be rarely associated: https://omim.org/clinicalSynopsis/604286. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Dilated Cardiomyopathy and conduction defects v1.54 SDHA Rebecca Whittington commented on gene: SDHA: Alston (J Med Genet 2012;49:569577. doi:10.1136/jmedgenet-2012-101146) reported a case of DCM and leukodystrophy in a patient compound heterozygous for variants in this gene. Levitas (2010 European Journal of Human Genetics (2010) 18, 11601165; doi:10.1038/ejhg.2010.83; published online 16 June 2010) This is a more early onset recessive, mitochondrial gene. Homozygosity for a specific variant G555E in dilated cardiomyopathy in specific populations including in 2010 the Bedouin population - 15 cases of paediatric cardiomyopathy - variant p.Gly555Glu has only one allele on GnomAD. This variant was also described in other populations assoc with DCM including Pagnamenta Mol Genet Metab. 2006 Nov;89(3):214-21. Epub 2006 Jun 23 and Van Coster Am J Med Genet A. 2003 Jul 1;120A(1):13-8.
Dilated Cardiomyopathy and conduction defects v1.54 NPPA Rebecca Whittington commented on gene: NPPA: AR disease: Disertori (Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29).ARg150Gln identified in the homozygous state in six individuals in a small region of Italy patients had DCM and atrial standstill.
Dilated Cardiomyopathy and conduction defects v1.54 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: HGMD: Four variants classed as DM and associated with DCM: Hanley 2016 (Hanley et al. BMC Medical Genetics (2016) 17:83): Two families with variants in the same codon I184. Some suggestion of variants tracking with disease, family members have mix of DCM and CHD such as VSD and ASD as well as conduction defects. Appears to have reduced disease penetrance so some evidence but not strong. 1 family tracks with disease in 2 generations but also found in four unaffected family members (reduced penetrance and possibly age of onset); second family variant tracks through 2 generations with four affected family members, but not seen in a family member with VSD and a second family member with VT. Neither variant on GnomAD. Yuan 2015 reports a variant fully penetrant tracking with DCM patients also had AF and AVB. Study of this variant in an insilico study suggests pathogenic: Abdul Samad PLoS One. 2016 May 6;11(5):e0153999. doi: 10.1371/journal.pone.0153999. eCollection 2016. Xu Int Heart J 2017; 58: 521-529: two patients with NKX2-5 vairants who presented with adult onset DCM but also previously had VSD and AVB, both variants were de novo following parental studies.
Dilated Cardiomyopathy and conduction defects v1.54 MPO Rebecca Whittington commented on gene: MPO: No reference to DCM on HGMD or OMIM or as far as I can see in the literature
Dilated Cardiomyopathy and conduction defects v1.54 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with DCM (6) and ARVC (2). One reference with cardiomyopathy 2018: Szabadosova J Clin Lab Anal. 2018 Feb;32(2) - NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Dilated Cardiomyopathy and conduction defects v1.54 ACTA1 Rebecca Whittington commented on gene: ACTA1: Very rare cause but can be an additional feature along with myopathy see: Gatayama Pediatrics 2013;131:e1e5 - 1 case study of nemaline myopathy and DCM. Reza 2018 (Circ Genom Precis Med. 2018;11:e002243. DOI: 10.1161/CIRCGEN.118.002243) - large family with a proband, sibling and cousin all affected with DCM and a ACTA1 variant which has no GnomAD freq, there are three obligate carriers of the variant who are affected between these relatives, suggesting high penetrance disease causing variant, adult onset in this family reported. Tadokoro 2018( Journal of the Neurological Sciences 393 (2018) 142144: 1) presented a case series of 7 patients presenting with myopathy: 2 had DCM 5 had HCM, all childhood onset.
Dilated Cardiomyopathy and conduction defects v1.54 SCN1B Rebecca Whittington commented on gene: SCN1B: https://omim.org/entry/600235?search=scn1b&highlight=scn1b. Appears to be associated with conduction defects and AF. Not listed on HGMD with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN2 Rebecca Whittington commented on gene: PSEN2: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN1 Rebecca Whittington commented on gene: PSEN1: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 GATAD1 Rebecca Whittington commented on gene: GATAD1: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1. HGMD: only one variant - AR disease: Theis (2011) Circ Cardiovasc Genet 4: 585 PubMed: 21965549 Summary: 1 piece of literature with one homozygote variant - two affected individuals and consanguenious family. Functional studies undertaken.
Dilated Cardiomyopathy and conduction defects v1.54 TFR2 Rebecca Whittington commented on gene: TFR2: https://omim.org/clinicalSynopsis/604250. Cardiomyopathy is not a key feature so not a lot in literature - in Gene reviews states that cardiomyopathy is rare (https://www.ncbi.nlm.nih.gov/books/NBK1349/). Onset is younger than HFE - young adults upwards.
Dilated Cardiomyopathy and conduction defects v1.54 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Associated with AD Haemochromatosis which can be more paediatric to adult onset as shown in OMIM (see this variant SLC40A1, 3-BP DEL, VAL162DEL). Griffiths 2010 (Hepatology. 2010 Mar;51(3):788-95. doi: 10.1002/hep.23377). No Gene reviews and on OMIM does not go into details about how common the cardiac features are.
Dilated Cardiomyopathy and conduction defects v1.54 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: ?? Cannot find anything relevant in google or gene reviews - one paper in 2017 re severe DCM in the ITPA gene which has features similar to RAB3GAP2 ( Martsolf syndrome and DCM).
Dilated Cardiomyopathy and conduction defects v1.54 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: Mouse model showed progressive DCM (Herron 2005 Hum Mol Genet. 2005 Mar 1;14(5):667-77). HGMD: 2017 paper: Falik-Zaccai (2017) EMBO Mol Med 9, 319 - reported five Arab Christian infants, aged 430 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3 and were homozygous for the same nonsense variant in this gene. Patients fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice.
Dilated Cardiomyopathy and conduction defects v1.54 IDH2 Rebecca Whittington commented on gene: IDH2: A feature can be dilated cardiomyopathy. Nota (J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961) - two paediatric cases where first signs picked up prenatally on ultrasound, one of the two died of cardiac failure age 8 years. Kranendijk J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. - Variant at 140 assoc with this disorder. Note on HGMD only two variants in same nucleotide described. Akbay states cardiomyopathy requiring treatment is frequently observed in type II D2HGA patients (Kranendijk et al. 2010b, 2012). Note: 14 patients described in Kranendijk 2010 - 13 arisen denovo for the same variant Arg140Gln and also reported Arg140Gly in a patient.
Dilated Cardiomyopathy and conduction defects v1.54 HFE2 Rebecca Whittington commented on gene: HFE2: Assoc with haemochromatosis type 2A - this gene on omim is HJV?? early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/. See https://omim.org/entry/608374#0009.
Dilated Cardiomyopathy and conduction defects v1.54 HAMP Rebecca Whittington commented on gene: HAMP: Assoc with haemochromatosis type 2B Blood2018132:101-110;doi: https://doi.org/10.1182/blood-2018-02-830562. - early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/.
Dilated Cardiomyopathy and conduction defects v1.54 EPG5 Rebecca Whittington commented on gene: EPG5: Cullop, Nat Genet. 2013 January ; 45(1): 8387. 13 individuals with AR Vici syndrome which features include: callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation - patients are all paediatric so suggest paediatric panel. Ehmke 2014 - reviewed literature - 24 cases , including their patient who was homozygous for a variant in penultimate exon of the gene (Am J Med Genet A. 2014 Dec;164A(12):3170-5). Byrne 2016 (BRAIN 2016: 139; 765781) again review of literature mentions 50 cases, the consistent features do not include cardiomyopathy but is a frequent feature. Includes a knock down drosophilia model.
Catecholaminergic polymorphic VT v1.12 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: No evidence for this gene assoc with CPVT. PMID:27761157
Catecholaminergic polymorphic VT v1.12 KCNE1 Rebecca Whittington commented on gene: KCNE1: No evidence for this gene assoc with CPVT.
Catecholaminergic polymorphic VT v1.12 ANK2 Rebecca Whittington commented on gene: ANK2: No evidence for this gene assoc with CPVT. PMID:27761157.
Catecholaminergic polymorphic VT v1.12 TRDN Rebecca Whittington commented on gene: TRDN: Literature evidence including functional / family testing. PMID:22422768. PMID: 25922419
Catecholaminergic polymorphic VT v1.12 RYR2 Rebecca Whittington commented on gene: RYR2: Lots of literature evidence for this gene / established gene. PMID: 26018045. PMID:26114861. PMID:19926015.
Catecholaminergic polymorphic VT v1.12 CASQ2 Rebecca Whittington commented on gene: CASQ2: Literature evidence (inc cosegregation, functional). PMID:27157848. PMID:29178653. PMID: 21618644
Catecholaminergic polymorphic VT v1.12 CALM1 Rebecca Whittington commented on gene: CALM1: Literature evidence -see PMID Refs (including functional). PMID: 23040497. PMID:28491771. PMID: 23388215
Catecholaminergic polymorphic VT v1.12 TECRL Rebecca Whittington commented on gene: TECRL: Only one entry linked to one paper for cardiac arrhythmia but showed homozygosity for splice mutation that segregated in the family. Possible overlapping phenotype with LQTS. 3 different families described in the paper (2016): PMID:27861123
Catecholaminergic polymorphic VT v1.12 CALM3 Rebecca Whittington commented on gene: CALM3: Some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see ref: PMID:27516456
Catecholaminergic polymorphic VT v1.12 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see refs. PMID: 24917665. PMID:26969752. PMID: 23388215.
Brugada syndrome and cardiac sodium channel disease v1.37 SCN2B Rebecca Whittington commented on gene: SCN2B: Only a couple of publications - some frequency associated with the variants described. Variant described in the Riuro paper rare strong BI and some functional evidence. But Watanabe variants look less convincing.PMID:19808477. https://www.ncbi.nlm.nih.gov/pubmed/23559163?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 RANGRF Rebecca Whittington commented on gene: RANGRF: Some frequency >1% associated with the variant described in the Olesen paper (21621375). Uncertain role for this gene concluded in Campuzano paper (24142675). Literature suggests that this could be a 'susceptibility' gene. https://www.ncbi.nlm.nih.gov/pubmed/21621375?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24142675?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21447824?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 PKP2 Rebecca Whittington commented on gene: PKP2: Gene mainly associated with ARVC. NO strong evidence for Brugada - only 1 publication. PMID:24352520
Brugada syndrome and cardiac sodium channel disease v1.37 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: NO evidence of association with Brugada Syndrome. 23632791. Variant reported here is very frequent on Gnomad especially Ashkenazi Jews
Brugada syndrome and cardiac sodium channel disease v1.37 KCNH2 Rebecca Whittington commented on gene: KCNH2: Overwhelming evidence for LQT. No strong evidence for Brugada. PMID:25626866. https://www.ncbi.nlm.nih.gov/pubmed/24400717. https://www.ncbi.nlm.nih.gov/pubmed/16043162
Brugada syndrome and cardiac sodium channel disease v1.37 KCND3 Rebecca Whittington commented on gene: KCND3: Gene mainly assoc with ataxia /intellectual disability. NO strong evidence in the Giudicessi paper - both variants described do not have strong BI and some frequency on GnomAD. PMID:21349352. PMID:22840528. https://www.ncbi.nlm.nih.gov/pubmed/22284586?dopt=Abstract. https://pdfs.semanticscholar.org/496b/e70141f03f188a0215693739efed9ae36573.pdf.
Brugada syndrome and cardiac sodium channel disease v1.37 CAV3 Rebecca Whittington commented on gene: CAV3: NO evidence for Brugada Syndrome. More assoc with LQT but even that is weak. PMID: 26132555. https://www.ncbi.nlm.nih.gov/pubmed/17060380?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24021552
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 3 / 4 variants reported in this gene in the paper have frequency / high frequency on GnomAD and mixed BI. No strong evidence presented in PMID 20817017. PMID:25527503. PMID:21383000.
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Couple of reports suggesting association with Short QT arrhythmia and Timothy Syndome. One variant which is reported has very high frequency on GnomAD and mixed BI. Another variant has no frequency and mixed BI. (PMID 1722476) Needs Review as not typical Brugada. PMID:20817017. PMID:25184293
Brugada syndrome and cardiac sodium channel disease v1.37 ANK2 Rebecca Whittington commented on gene: ANK2: No strong evidence for Brugada. Phenotype does not seem to be clear in paper. Possible modifier gene. PMID:15178757. https://www.ncbi.nlm.nih.gov/pubmed/17242276?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 ABCC9 Rebecca Whittington commented on gene: ABCC9: Cantu gene - Gene assoc with specific features. No clear evidence from Hu paper as associated with Brugada - phenotypes overlapping and patient has SCN5A variant. PMID:24439875
Brugada syndrome and cardiac sodium channel disease v1.37 TRPM4 Rebecca Whittington commented on gene: TRPM4: Literature evidence including prevalence of variants in affected individuals and functional evidence. However appears mainly assoc with heart block /PCCD. PMID:23382873. PMID:29568272. https://www.ncbi.nlm.nih.gov/pubmed/21887725?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/26820365?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN5A Rebecca Whittington commented on gene: SCN5A: Lots of literature evidence including prevalence of variants in affected individuals. PMID:20129283. PMID:23805106. PMID:24573164. PMID:22739120
Brugada syndrome and cardiac sodium channel disease v1.37 SCN3B Rebecca Whittington commented on gene: SCN3B: Literature evidence including functional studies. PMID:20558140. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN1B Rebecca Whittington commented on gene: SCN1B: Literature evidence includes cosegregation and functional evidence. PMID:18464934. PMID:25253298. PMID:28878239
Brugada syndrome and cardiac sodium channel disease v1.37 SCN10A Rebecca Whittington commented on gene: SCN10A: Rare. Evidence for association SNP / polygenic contribution Largest study in Hu paper PMID:24998131. PMID:25691538. PMID:25691686. PMID:25053638. https://www.ncbi.nlm.nih.gov/pubmed/28407228?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE3 Rebecca Whittington commented on gene: KCNE3: Reported in Japanese patient with ?apparent functional effect but also recorded 36x on GnomAD and not strong BI. Also variant in Delpon paper recorder 26 times on GnomAD and mixed reviews. Needs review as no clear association. PMID:19122847. https://www.karger.com/Article/Abstract/113746. https://www.karger.com/Article/Abstract/113746
Brugada syndrome and cardiac sodium channel disease v1.37 HCN4 Rebecca Whittington commented on gene: HCN4: Milano (2014) paper (25145517) showed segregation / ?functional effect. Macri paper (24607718) showed functional effect. PMID: 27553229. https://ac.els-cdn.com/S0735109716015862/1-s2.0-S0735109716015862-main.pdf?_tid=89c56f79-58d9-413a-a162-598c96f24a0b&acdnat=1546869351_0c665867a80ab79d2af032616efe9099
Brugada syndrome and cardiac sodium channel disease v1.37 GPD1L Rebecca Whittington commented on gene: GPD1L: Variant described in the London paper is recorded 36x on GnomAD. Also several asymptomatic patients have the variant. Variant described in the Huang paper describes nonsense variant assoc with SID that segregated in the family but 36 x on GnomAD. Other variants listed on OMIM as pathogenic at very high frequency on gnomAD. Evidence is not strong for monogenic cause. PMID:17967977. PMID:29077258. PMID:17967976
Brugada syndrome and cardiac sodium channel disease v1.37 CACNB2 Rebecca Whittington commented on gene: CACNB2: Not much evidence for this gene. Variant described in Cardeiro paper (19358333) is not convincing. Other variant from Antzelevitch paper (17224476) tracks in family with Brugada, ? Functional evidence and strong BI and no frequency.PMID:22840528
Brugada syndrome and cardiac sodium channel disease v1.37 SLMAP Rebecca Whittington commented on gene: SLMAP: No strong evidence for this gene. Only one report - variant described does not come up on Alamut. The Val269Ile variant is sufficiently rare but not enough information. https://www.ncbi.nlm.nih.gov/pubmed/23064965?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE5 Rebecca Whittington commented on gene: KCNE5: NO strong evidence for this gene. Only one report - not enough information in report to look at variant in Alamut. PMID:18313602
Brugada syndrome and cardiac sodium channel disease v1.37 DLG1 Rebecca Whittington commented on gene: DLG1: No strong evidence for this gene
Arrhythmogenic right ventricular cardiomyopathy v1.22 TTN Rebecca Whittington commented on gene: TTN: PubMED: 29567486 - core gene. All missense on HGMD. Not for panel.
Arrhythmogenic right ventricular cardiomyopathy v1.22 TGFB3 Rebecca Whittington commented on gene: TGFB3: On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVC
Arrhythmogenic right ventricular cardiomyopathy v1.22 SCN5A Rebecca Whittington commented on gene: SCN5A: PubMED: 29567486 - core gene. Few variants on HGMD. 24317018 - I137M identified in one proband (no MAF, BI supporting). 28341781 DM origionally but downgraded to ?DM. Little evidence
Arrhythmogenic right ventricular cardiomyopathy v1.22 LMNA Rebecca Whittington commented on gene: LMNA: PubMED: 29567486 - core gene. Few patients on HGMD with DM variant and ARVC. Pubmed: 22199124 (LMNA variants mimic ARVC, some segregation. 4 families with ARVC and LMNA), 23684604. Genetic screening for LMNA gene is important for ARVC patients, particularly in patients with bradycardia (26620845) - 2 unrelated probands identified with LVNC variant - first LMNA mutation p.M1K was detected in a 62-year-old male proband, while the second mutation p.W514X was found in a 70-year-old male proband.
Arrhythmogenic right ventricular cardiomyopathy v1.22 LDB3 Rebecca Whittington commented on gene: LDB3: Some patients with DCM have LVNC.
Arrhythmogenic right ventricular cardiomyopathy v1.22 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: High rate of truncating variants in general population. Only a couple of reports assoc LQT and ARVC (but no real evidence). Only weak Class 3s reported at BGL. Low penetrance: 30092956
Arrhythmogenic right ventricular cardiomyopathy v1.22 TMEM43 Rebecca Whittington commented on gene: TMEM43: PubMED: 29567486 - core gene. Listed on HGMDPro assoc with ARVC and DCM - quite strong evidence from segregation etc for ARVC and recommendations to add to panels. Class 3s reported at BGL. Pubmed 26840987. Founder mutation p.S358L - functional evidence. Rare cause of ARVC
Arrhythmogenic right ventricular cardiomyopathy v1.22 RYR2 Rebecca Whittington commented on gene: RYR2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for CPVT as considered to be the main gene. Reported C5 RYR2 assoc with short QT. Multiple variants on HGMD however pathogenicity downgraded to VUS: Pubmed: 28404607. Insufficient evidence to include.
Arrhythmogenic right ventricular cardiomyopathy v1.22 PLN Rebecca Whittington commented on gene: PLN: DCM/HCM on OMIM - Not ARVC. HGMD - HCM/DCM. PubMED: 29567486 - core gene.
Arrhythmogenic right ventricular cardiomyopathy v1.22 PKP2 Rebecca Whittington commented on gene: PKP2: PubMED: 29567486 - core gene. Lots of reports on HGMDPro assoc with ARVC /Brugada- strong evidence with this. Class5 variants reported at BGL assoc with arrhythmia.
Arrhythmogenic right ventricular cardiomyopathy v1.22 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. NO pathogenic variants reported at BGL- only C3s.
Arrhythmogenic right ventricular cardiomyopathy v1.22 DSP Rebecca Whittington commented on gene: DSP: PubMED: 29567486 - core gene
Arrhythmogenic right ventricular cardiomyopathy v1.22 DSG2 Rebecca Whittington commented on gene: DSG2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for ARVC - including good evidence. One C4 reported at BGL.
Arrhythmogenic right ventricular cardiomyopathy v1.22 DSC2 Rebecca Whittington commented on gene: DSC2: PubMED: 29567486 - core gene. Lots of entries for ARVC for this gene including functional evidence. One class 4 assoc with LVNC - others weak Class 3.
Arrhythmogenic right ventricular cardiomyopathy v1.22 DES Rebecca Whittington commented on gene: DES: PubMED: 29567486 - core gene. Myopathy, myofibrillar, 1 associated with cardiac abnormalities (AD/AR inheritance). Less common ARVC gene. Listed in review, rare cause <1% Pubmed: 30092956. HGMD, 2 DM variants, 1 with functional work.
Arrhythmogenic right ventricular cardiomyopathy v1.22 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with mainly DCM, with with ARVC. Two references are 2018 (PMID30165862). Both NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Thoracic aortic aneurysm or dissection v1.88 FOXE3 Rebecca Whittington reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 CBS Rebecca Whittington reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFBR2 Rebecca Whittington reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFBR1 Rebecca Whittington reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFB3 Rebecca Whittington reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 TGFB2 Rebecca Whittington reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD4 Rebecca Whittington reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD3 Rebecca Whittington reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SMAD2 Rebecca Whittington reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SLC2A10 Rebecca Whittington reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 SKI Rebecca Whittington reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 PRKG1 Rebecca Whittington reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 PLOD1 Rebecca Whittington reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 NOTCH1 Rebecca Whittington reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 MYLK Rebecca Whittington reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 MYH11 Rebecca Whittington reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 LOX Rebecca Whittington reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FLNA Rebecca Whittington reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FBN2 Rebecca Whittington reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 FBN1 Rebecca Whittington reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ELN Rebecca Whittington reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 EFEMP2 Rebecca Whittington reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL5A2 Rebecca Whittington reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL5A1 Rebecca Whittington reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 COL3A1 Rebecca Whittington reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ACTA2 Rebecca Whittington reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.88 ZNF469 Rebecca Whittington reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 TNXB Rebecca Whittington reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 SLC39A13 Rebecca Whittington reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 MFAP5 Rebecca Whittington reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 LTBP2 Rebecca Whittington reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 KCNN1 Rebecca Whittington reviewed gene: KCNN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Thoracic aortic aneurysm or dissection v1.88 HNRNPK Rebecca Whittington reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 FKBP14 Rebecca Whittington reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 FBLN5 Rebecca Whittington reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL9A3 Rebecca Whittington reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL9A2 Rebecca Whittington reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL9A1 Rebecca Whittington reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL4A1 Rebecca Whittington reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL2A1 Rebecca Whittington reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL11A2 Rebecca Whittington reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL11A1 Rebecca Whittington reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 CHST14 Rebecca Whittington reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 B4GALT7 Rebecca Whittington reviewed gene: B4GALT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ATP7A Rebecca Whittington reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 ATP6V0A2 Rebecca Whittington reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ALDH18A1 Rebecca Whittington reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ADAMTS2 Rebecca Whittington reviewed gene: ADAMTS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 ACVR1 Rebecca Whittington reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 ABCC6 Rebecca Whittington reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 PKD2 Rebecca Whittington reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 PKD1 Rebecca Whittington reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 MED12 Rebecca Whittington reviewed gene: MED12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 FLCN Rebecca Whittington reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 COL1A2 Rebecca Whittington reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.88 COL1A1 Rebecca Whittington reviewed gene: COL1A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.88 BGN Rebecca Whittington reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection v1.88 ABL1 Rebecca Whittington reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.8 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 CACNA2D1 Rebecca Whittington reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 SLC4A3 Rebecca Whittington reviewed gene: SLC4A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 SLC22A5 Rebecca Whittington reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v1.8 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v1.8 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v1.8 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.16 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 GJA5 Rebecca Whittington reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 NKX2-5 Rebecca Whittington reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TBX3 Rebecca Whittington reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TBX5 Rebecca Whittington reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 EMD Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 HCN4 Rebecca Whittington reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 TRPM4 Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.16 KCNK17 Rebecca Whittington reviewed gene: KCNK17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Long QT syndrome v1.24 SCN4B Rebecca Whittington reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 NOS1AP Rebecca Whittington reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Long QT syndrome v1.24 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Long QT syndrome v1.24 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 CALM1 Rebecca Whittington reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 AKAP9 Rebecca Whittington reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 SNTA1 Rebecca Whittington reviewed gene: SNTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 KCNJ5 Rebecca Whittington reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNE2 Rebecca Whittington reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNE1 Rebecca Whittington reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 CALM3 Rebecca Whittington reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Long QT syndrome v1.24 CALM2 Rebecca Whittington reviewed gene: CALM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.24 ALG10 Rebecca Whittington reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 ACTN2 Rebecca Whittington reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNT2 Rebecca Whittington reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNI3 Rebecca Whittington reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNC1 Rebecca Whittington reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 PRKAG2 Rebecca Whittington reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 PLN Rebecca Whittington reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYL3 Rebecca Whittington reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYL2 Rebecca Whittington reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYH7 Rebecca Whittington reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYBPC3 Rebecca Whittington reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 LAMP2 Rebecca Whittington reviewed gene: LAMP2: 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); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 GLA Rebecca Whittington reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 FHL1 Rebecca Whittington reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 CSRP3 Rebecca Whittington reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 ACTC1 Rebecca Whittington reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TRIM63 Rebecca Whittington reviewed gene: TRIM63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 TMEM70 Rebecca Whittington reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MYOZ2 Rebecca Whittington reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYOM1 Rebecca Whittington reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 VCL Rebecca Whittington reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 TTN Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 TSFM Rebecca Whittington reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 TCAP Rebecca Whittington reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SOS1 Rebecca Whittington reviewed gene: SOS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SLC25A4 Rebecca Whittington reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 SLC25A3 Rebecca Whittington reviewed gene: SLC25A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 SHOC2 Rebecca Whittington reviewed gene: SHOC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SCO2 Rebecca Whittington reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 RAF1 Rebecca Whittington reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 PTPN11 Rebecca Whittington reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 NRAS Rebecca Whittington reviewed gene: NRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYO6 Rebecca Whittington reviewed gene: MYO6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MT-TL1 Rebecca Whittington reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 MRPL3 Rebecca Whittington reviewed gene: MRPL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MAP2K2 Rebecca Whittington reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 MAP2K1 Rebecca Whittington reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 KLF10 Rebecca Whittington reviewed gene: KLF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 HRAS Rebecca Whittington reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 GUSB Rebecca Whittington reviewed gene: GUSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 GLB1 Rebecca Whittington reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 GAA Rebecca Whittington reviewed gene: GAA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 FXN Rebecca Whittington reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 FOXRED1 Rebecca Whittington reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 CRYAB Rebecca Whittington reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 COA5 Rebecca Whittington reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 CASQ2 Rebecca Whittington reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 CALR3 Rebecca Whittington reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 BRAF Rebecca Whittington reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 ATP5E Rebecca Whittington reviewed gene: ATP5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 AGL Rebecca Whittington reviewed gene: AGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 ACADVL Rebecca Whittington reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 NEXN Rebecca Whittington reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYLK2 Rebecca Whittington reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 JPH2 Rebecca Whittington reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 DES Rebecca Whittington reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 ACTA1 Rebecca Whittington reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MYH6 Rebecca Whittington reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 XK Rebecca Whittington reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TXNRD2 Rebecca Whittington reviewed gene: TXNRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TMPO Rebecca Whittington reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TMEM43 Rebecca Whittington reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SYNE2 Rebecca Whittington reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SYNE1 Rebecca Whittington reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PRKAG2 Rebecca Whittington reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PRDM16 Rebecca Whittington reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 NEBL Rebecca Whittington reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYL3 Rebecca Whittington reviewed gene: MYL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYL2 Rebecca Whittington reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LAMP2 Rebecca Whittington reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LAMA4 Rebecca Whittington reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 JUP Rebecca Whittington reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ILK Rebecca Whittington reviewed gene: ILK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 GLA Rebecca Whittington reviewed gene: GLA: 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); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FHL2 Rebecca Whittington reviewed gene: FHL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FHL1 Rebecca Whittington reviewed gene: FHL1: 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); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 EMD Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSC2 Rebecca Whittington reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DOLK Rebecca Whittington reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DNAJC19 Rebecca Whittington reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DMPK Rebecca Whittington reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CTF1 Rebecca Whittington reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CRYAB Rebecca Whittington reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 VCL Rebecca Whittington reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TTN Rebecca Whittington reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNT2 Rebecca Whittington reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNI3 Rebecca Whittington reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TNNC1 Rebecca Whittington reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TCAP Rebecca Whittington reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 TAZ Rebecca Whittington reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SGCD Rebecca Whittington reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RBM20 Rebecca Whittington reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 RAF1 Rebecca Whittington reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 PLN Rebecca Whittington reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 NEXN Rebecca Whittington reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYH7 Rebecca Whittington reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYH6 Rebecca Whittington reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 MYBPC3 Rebecca Whittington reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 HFE Rebecca Whittington reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 FKTN Rebecca Whittington reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 EYA4 Rebecca Whittington reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DSP Rebecca Whittington reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DMD Rebecca Whittington reviewed gene: DMD: 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); Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 DES Rebecca Whittington reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 CSRP3 Rebecca Whittington reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 BAG3 Rebecca Whittington reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ACTN2 Rebecca Whittington reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ACTC1 Rebecca Whittington reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 ABCC9 Rebecca Whittington reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.53 SGCB Rebecca Whittington reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 SDHA Rebecca Whittington reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 NPPA Rebecca Whittington reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 NKX2-5 Rebecca Whittington reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 MPO Rebecca Whittington reviewed gene: MPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.53 ACTA1 Rebecca Whittington reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 PSEN2 Rebecca Whittington reviewed gene: PSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 PSEN1 Rebecca Whittington reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 GATAD1 Rebecca Whittington reviewed gene: GATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 TFR2 Rebecca Whittington reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 SLC40A1 Rebecca Whittington reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 RAB3GAP2 Rebecca Whittington reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 PPP1R13L Rebecca Whittington reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 IDH2 Rebecca Whittington reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.53 HFE2 Rebecca Whittington reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 HAMP Rebecca Whittington reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.53 EPG5 Rebecca Whittington reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.11 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 KCNE1 Rebecca Whittington reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 TRDN Rebecca Whittington reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 CASQ2 Rebecca Whittington reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 CALM1 Rebecca Whittington reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.11 TECRL Rebecca Whittington reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.11 CALM3 Rebecca Whittington reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Catecholaminergic polymorphic VT v1.11 CALM2 Rebecca Whittington reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.36 SCN2B Rebecca Whittington reviewed gene: SCN2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 RANGRF Rebecca Whittington reviewed gene: RANGRF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNJ8 Rebecca Whittington reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCND3 Rebecca Whittington reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNA2D1 Rebecca Whittington reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 ABCC9 Rebecca Whittington reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 TRPM4 Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN3B Rebecca Whittington reviewed gene: SCN3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN10A Rebecca Whittington reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 HCN4 Rebecca Whittington reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 GPD1L Rebecca Whittington reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SLMAP Rebecca Whittington reviewed gene: SLMAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE5 Rebecca Whittington reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.36 DLG1 Rebecca Whittington reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Arrhythmogenic right ventricular cardiomyopathy v1.21 TTN Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 TGFB3 Rebecca Whittington reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 CTNNA3 Rebecca Whittington reviewed gene: CTNNA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 TMEM43 Rebecca Whittington reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 PLN Rebecca Whittington reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 JUP Rebecca Whittington reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DSP Rebecca Whittington reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DSC2 Rebecca Whittington reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 DES Rebecca Whittington reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.21 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.15 UQCC1 Anna de Burca Classified gene: UQCC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.15 UQCC1 Anna de Burca Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.14 UQCR10 Anna de Burca Classified gene: UQCR10 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.14 UQCR10 Anna de Burca Gene: uqcr10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.13 UQCR11 Anna de Burca Classified gene: UQCR11 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.13 UQCR11 Anna de Burca Gene: uqcr11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.12 UQCRB Anna de Burca Classified gene: UQCRB as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.12 UQCRB Anna de Burca Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.11 UQCRQ Anna de Burca Classified gene: UQCRQ as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.11 UQCRQ Anna de Burca Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.10 UQCC3 Anna de Burca Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.10 UQCC3 Anna de Burca Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.9 UQCRH Anna de Burca Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.9 UQCRH Anna de Burca Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.8 UQCRFS1 Anna de Burca Classified gene: UQCRFS1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.8 UQCRFS1 Anna de Burca Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.7 UQCRC2 Anna de Burca Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.7 UQCRC2 Anna de Burca Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.6 UQCRC1 Anna de Burca Classified gene: UQCRC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.6 UQCRC1 Anna de Burca Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.5 UQCC2 Anna de Burca Classified gene: UQCC2 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.5 UQCC2 Anna de Burca Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.11 SDHAF4 Anna de Burca Classified gene: SDHAF4 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.11 SDHAF4 Anna de Burca Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.10 SDHB Anna de Burca Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.10 SDHB Anna de Burca Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.9 SDHC Anna de Burca Classified gene: SDHC as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.9 SDHC Anna de Burca Gene: sdhc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.8 SDHD Anna de Burca Classified gene: SDHD as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.8 SDHD Anna de Burca Gene: sdhd has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.7 SDHAF3 Anna de Burca Classified gene: SDHAF3 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.7 SDHAF3 Anna de Burca Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.6 SDHAF2 Anna de Burca Classified gene: SDHAF2 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.6 SDHAF2 Anna de Burca Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.5 SDHAF1 Anna de Burca Classified gene: SDHAF1 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.5 SDHAF1 Anna de Burca Gene: sdhaf1 has been classified as Amber List (Moderate Evidence).
Osteogenesis imperfecta v1.17 CREB3L1 Duncan Baker edited their review of gene: CREB3L1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.7 TFAM Anna de Burca Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial DNA maintenance disorder v0.7 TFAM Anna de Burca Added comment: Comment on list classification: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence.
Mitochondrial DNA maintenance disorder v0.7 TFAM Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial liver disease v0.5 TFAM Anna de Burca Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial liver disease v0.5 TFAM Anna de Burca Added comment: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence.
Mitochondrial liver disease v0.5 TFAM Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.149 TIMM8A Rebecca Foulger Source Expert Review Red was added to TIMM8A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 THAP1 Rebecca Foulger Source Expert Review Red was added to THAP1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SYNE1 Rebecca Foulger Source Expert Review Red was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SPTLC2 Rebecca Foulger Source Expert Review Red was added to SPTLC2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SMCHD1 Rebecca Foulger Source Expert Review Green was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 SMAD4 Rebecca Foulger Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 SLC4A11 Rebecca Foulger Source Expert Review Red was added to SLC4A11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SLC4A1 Rebecca Foulger Source Expert Review Red was added to SLC4A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 POLD1 Rebecca Foulger Source Expert Review Red was added to POLD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 PDCD10 Rebecca Foulger Source Expert Review Green was added to PDCD10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 NR5A1 Rebecca Foulger Source Expert Review Green was added to NR5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 MYO7A Rebecca Foulger Source Expert Review Red was added to MYO7A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 MYH8 Rebecca Foulger Source Expert Review Green was added to MYH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 LMNA Rebecca Foulger Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 KRIT1 Rebecca Foulger Source Expert Review Green was added to KRIT1.
Publications for gene KRIT1 were changed from to 28749478
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 KIT Rebecca Foulger Source Expert Review Red was added to KIT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 KCNE1 Rebecca Foulger Source Expert Review Red was added to KCNE1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 KARS Rebecca Foulger Source Expert Review Red was added to KARS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 FAM161A Rebecca Foulger Source Expert Review Red was added to FAM161A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 COL4A2 Rebecca Foulger Source Expert Review Green was added to COL4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 COL4A1 Rebecca Foulger Source Expert Review Green was added to COL4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 CLN6 Rebecca Foulger Source Expert Review Red was added to CLN6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 CISD2 Rebecca Foulger Source Expert Review Red was added to CISD2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 CDH1 Rebecca Foulger Source Expert Review Green was added to CDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 BRCA1 Rebecca Foulger Source Expert Review Red was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 ATP1A3 Rebecca Foulger Source Expert Review Red was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AR Rebecca Foulger Source Expert Review Green was added to AR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 ALDOB Rebecca Foulger Source Expert Review Red was added to ALDOB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AIRE Rebecca Foulger Source Expert Review Red was added to AIRE.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AGXT Rebecca Foulger Source Expert Review Red was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 ACTA2 Rebecca Foulger Source Expert Review Green was added to ACTA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 ACADS Rebecca Foulger Source Expert Review Red was added to ACADS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AMER1 Rebecca Foulger Source Expert Review Green was added to AMER1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.148 TIMM8A Rebecca Foulger edited their review of gene: TIMM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted TIMM8A gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 THAP1 Rebecca Foulger edited their review of gene: THAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted THAP1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SYNE1 Rebecca Foulger edited their review of gene: SYNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SYNE1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SPTLC2 Rebecca Foulger edited their review of gene: SPTLC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SPTLC2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SMCHD1 Rebecca Foulger edited their review of gene: SMCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMCHD1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 SMAD4 Rebecca Foulger edited their review of gene: SMAD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMAD4 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 SLC4A11 Rebecca Foulger edited their review of gene: SLC4A11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A11 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SLC4A1 Rebecca Foulger edited their review of gene: SLC4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 POLD1 Rebecca Foulger edited their review of gene: POLD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Does not seem to have evidence for prenatal presentation, and risk of cancer predisposition as an incidental finding. Action taken: Demoted POLD1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 PDCD10 Rebecca Foulger edited their review of gene: PDCD10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted PDCD10 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 NR5A1 Rebecca Foulger edited their review of gene: NR5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted NR5A1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 MYO7A Rebecca Foulger edited their review of gene: MYO7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 MYH8 Rebecca Foulger edited their review of gene: MYH8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted MYH8 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 LMNA Rebecca Foulger edited their review of gene: LMNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 KRIT1 Rebecca Foulger edited their review of gene: KRIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. One case has been reported for a Biallelic variant in this gene prenatally, for a different phenotype (PMID: 28749478). Action taken: Promoted KRIT1 gene rating from Amber to Green.; Changed rating: GREEN; Changed publications: 28749478
Fetal anomalies v0.148 KIT Rebecca Foulger edited their review of gene: KIT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 KCNE1 Rebecca Foulger edited their review of gene: KCNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KCNE1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 KARS Rebecca Foulger edited their review of gene: KARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KARS gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 FAM161A Rebecca Foulger edited their review of gene: FAM161A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted FAM161A gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 COL4A2 Rebecca Foulger edited their review of gene: COL4A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A2 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 CLN6 Rebecca Foulger edited their review of gene: CLN6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CLN6 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 CISD2 Rebecca Foulger edited their review of gene: CISD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CISD2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 CDH1 Rebecca Foulger edited their review of gene: CDH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Obvious structural phenotype. Action taken: Promoted CDH1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 BRCA1 Rebecca Foulger edited their review of gene: BRCA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 ATP1A3 Rebecca Foulger edited their review of gene: ATP1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ATP1A3 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AR Rebecca Foulger edited their review of gene: AR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. STRs are NOT to be reported. Action taken: Promoted AR gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 ALDOB Rebecca Foulger edited their review of gene: ALDOB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ALDOB gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AIRE Rebecca Foulger edited their review of gene: AIRE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted AIRE gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AGXT Rebecca Foulger edited their review of gene: AGXT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted AGXT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 ACTA2 Rebecca Foulger edited their review of gene: ACTA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Moyamoya disease could present on an MRI. Action taken: Promoted ACTA2 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 ACADS Rebecca Foulger edited their review of gene: ACADS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted ACADS gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AMER1 Rebecca Foulger edited their review of gene: AMER1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Include because causes an important phenotype. Action taken: Promoted AMER1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.147 LRP5 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance was recorded as biallelic for 'OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME' and monoallelic for 'HIGH BONE MASS TRAIT', 'OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1', 'ENDOSTEAL HYPEROSTOSIS WORTH TYPE' and 'VITREORETINOPATHY EXUDATIVE TYPE 4'. Changed inheritance to 'biallelic' only following clinical review.
Fetal anomalies v0.147 LRP5 Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.146 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to X-linked dominant after clinical review so that both X-linked dominant and X-linked recessive inheritance would be picked up.
Fetal anomalies v0.146 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.145 GJB2 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, inheritance was listed as biallelic for 'DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A' and monoallelic for 'PALMOPLANTAR KERATODERMA WITH DEAFNESS', 'ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME', 'VOHWINKEL SYNDROME' and 'BART-PUMPHREY SYNDROME'. Changed MOI to 'monoallelic' only following clinical review because the deafness phenotype alone is not detectable pre-natally.
Fetal anomalies v0.145 GJB2 Rebecca Foulger Mode of inheritance for gene: GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.144 GJA1 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance.
Fetal anomalies v0.144 GJA1 Rebecca Foulger Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 CRYAA Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance.
Fetal anomalies v0.143 CRYAA Rebecca Foulger Mode of inheritance for gene: CRYAA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.142 CASK Rebecca Foulger commented on gene: CASK: In the original PAGE file, MOI listed as X-linked dominant for 'MENTAL RETARDATION X-LINKED CASK-RELATED, and Hemizygous for 'FG SYNDROME TYPE 4' and 'MRX WITH/WITHOUT NYSTAGMUS'.
Fetal anomalies v0.142 ALDH18A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance in original PAGE file was Monoallelic for 'CUTIS LAXA, AUTOSOMAL DOMINANT 3' and 'SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT', and Biallelic for 'MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES'. Clinical review confirmed that ALDH18A1 should be on the panel with both monoallelic and biallelic inheritance.
Fetal anomalies v0.142 ALDH18A1 Rebecca Foulger Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.141 ACOX1 Rebecca Foulger Added comment: Comment on phenotypes: 'Peroxisomal acyl-CoA oxidase deficiency, 264470' phenotype was added from OMIM, following clinical review. The 'ADRENOLEUKODYSTROPHY PSEUDONEONATAL' phenotype came from the original PAGE file and DD-Gene2Phenotype.
Fetal anomalies v0.141 ACOX1 Rebecca Foulger Phenotypes for gene: ACOX1 were changed from ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 to ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470
Fetal anomalies v0.140 SOST Rebecca Foulger Phenotypes for gene: SOST were changed from 269500; SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 to SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860
Fetal anomalies v0.139 SOST Rebecca Foulger Added comment: Comment on mode of inheritance: SOST was originally in the PAGE Additional list with 'Biallelic' inheritance and a confirmed rating. Changed the inheritance to both monoallelic and biallelic following clinical review.
Fetal anomalies v0.139 SOST Rebecca Foulger Mode of inheritance for gene: SOST was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.138 MSH6 Rebecca Foulger Added comment: Comment on mode of inheritance: The Mode of inheritance in the Additional PAGE list was recorded as 'Monoallelic' with a Confirmed rating. Phenotype was changed to Biallelic following clinical review.
Fetal anomalies v0.138 MSH6 Rebecca Foulger Mode of inheritance for gene: MSH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.137 MSH2 Rebecca Foulger Added comment: Comment on mode of inheritance: The Mode of inheritance in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Fetal anomalies v0.137 MSH2 Rebecca Foulger Mode of inheritance for gene: MSH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.136 MLH1 Rebecca Foulger Added comment: Comment on mode of inheritance: The MOI in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Fetal anomalies v0.136 MLH1 Rebecca Foulger Mode of inheritance for gene: MLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 NYX Rebecca Foulger Source Expert Review Red was added to NYX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NTRK1 Rebecca Foulger Source Expert Review Red was added to NTRK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NT5C3A Rebecca Foulger Source Expert Review Red was added to NT5C3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NR2F1 Rebecca Foulger Source Expert Review Red was added to NR2F1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NPHS2 Rebecca Foulger Source Expert Review Red was added to NPHS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NPHP4 Rebecca Foulger Source Expert Review Red was added to NPHP4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NMNAT1 Rebecca Foulger Source Expert Review Red was added to NMNAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NKX2-1 Rebecca Foulger Source Expert Review Red was added to NKX2-1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NGLY1 Rebecca Foulger Source Expert Review Red was added to NGLY1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NDP Rebecca Foulger Source Expert Review Red was added to NDP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NAGS Rebecca Foulger Source Expert Review Red was added to NAGS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYT1L Rebecca Foulger Source Expert Review Red was added to MYT1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYO5B Rebecca Foulger Source Expert Review Red was added to MYO5B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYO5A Rebecca Foulger Source Expert Review Red was added to MYO5A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MUT Rebecca Foulger Source Expert Review Red was added to MUT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTRR Rebecca Foulger Source Expert Review Red was added to MTRR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTR Rebecca Foulger Source Expert Review Red was added to MTR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTHFR Rebecca Foulger Source Expert Review Red was added to MTHFR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MSL3 Rebecca Foulger Publications for gene MSL3 were changed from to 30224647
Fetal anomalies v0.135 MRE11 Rebecca Foulger Source Expert Review Red was added to MRE11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MPI Rebecca Foulger Source Expert Review Red was added to MPI.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMADHC Rebecca Foulger Source Expert Review Red was added to MMADHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMACHC Rebecca Foulger Source Expert Review Red was added to MMACHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMAB Rebecca Foulger Source Expert Review Red was added to MMAB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMAA Rebecca Foulger Source Expert Review Red was added to MMAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MICU1 Rebecca Foulger Source Expert Review Red was added to MICU1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MGAT2 Rebecca Foulger Source Expert Review Red was added to MGAT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MFSD8 Rebecca Foulger Source Expert Review Red was added to MFSD8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MECP2 Rebecca Foulger Source Expert Review Red was added to MECP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCEE Rebecca Foulger Source Expert Review Red was added to MCEE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCCC2 Rebecca Foulger Source Expert Review Red was added to MCCC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCCC1 Rebecca Foulger Source Expert Review Red was added to MCCC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MC2R Rebecca Foulger Source Expert Review Red was added to MC2R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LTBP2 Rebecca Foulger Source Expert Review Red was added to LTBP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LRP5 Rebecca Foulger Mode of inheritance for gene LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 LMBRD1 Rebecca Foulger Source Expert Review Red was added to LMBRD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LEMD3 Rebecca Foulger Source Expert Review Red was added to LEMD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KMT5B Rebecca Foulger Source Expert Review Red was added to KMT5B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNQ2 Rebecca Foulger Source Expert Review Red was added to KCNQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNC1 Rebecca Foulger Source Expert Review Red was added to KCNC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNB1 Rebecca Foulger Source Expert Review Red was added to KCNB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNA2 Rebecca Foulger Source Expert Review Red was added to KCNA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 JAK3 Rebecca Foulger Source Expert Review Red was added to JAK3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 JAGN1 Rebecca Foulger Source Expert Review Red was added to JAGN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 IVD Rebecca Foulger Source Expert Review Red was added to IVD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ITGA7 Rebecca Foulger Source Expert Review Red was added to ITGA7.
Publications for gene ITGA7 were changed from to 9590299
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 IKBKG Rebecca Foulger Mode of inheritance for gene IKBKG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.135 IGSF1 Rebecca Foulger Source Expert Review Red was added to IGSF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HYAL1 Rebecca Foulger Source Expert Review Red was added to HYAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HSD3B7 Rebecca Foulger Source Expert Review Red was added to HSD3B7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HSD17B10 Rebecca Foulger Source Expert Review Red was added to HSD17B10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPS1 Rebecca Foulger Source Expert Review Red was added to HPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPRT1 Rebecca Foulger Source Expert Review Red was added to HPRT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPGD Rebecca Foulger Source Expert Review Red was added to HPGD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HOXC13 Rebecca Foulger Source Expert Review Red was added to HOXC13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HNRNPU Rebecca Foulger Source Expert Review Red was added to HNRNPU.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HMGCS2 Rebecca Foulger Source Expert Review Red was added to HMGCS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HMGCL Rebecca Foulger Source Expert Review Red was added to HMGCL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HLCS Rebecca Foulger Source Expert Review Red was added to HLCS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HINT1 Rebecca Foulger Source Expert Review Red was added to HINT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HGSNAT Rebecca Foulger Source Expert Review Red was added to HGSNAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HEXB Rebecca Foulger Source Expert Review Red was added to HEXB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HEXA Rebecca Foulger Source Expert Review Red was added to HEXA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HECW2 Rebecca Foulger Source Expert Review Red was added to HECW2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HDAC4 Rebecca Foulger Source Expert Review Red was added to HDAC4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HCN1 Rebecca Foulger Source Expert Review Red was added to HCN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HCFC1 Rebecca Foulger Source Expert Review Red was added to HCFC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HAX1 Rebecca Foulger Source Expert Review Red was added to HAX1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HADH Rebecca Foulger Source Expert Review Red was added to HADH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HACE1 Rebecca Foulger Source Expert Review Red was added to HACE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRM6 Rebecca Foulger Source Expert Review Red was added to GRM6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIN2A Rebecca Foulger Source Expert Review Red was added to GRIN2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIK2 Rebecca Foulger Source Expert Review Red was added to GRIK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIA3 Rebecca Foulger Source Expert Review Red was added to GRIA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GMPPA Rebecca Foulger Source Expert Review Red was added to GMPPA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GLUD1 Rebecca Foulger Source Expert Review Red was added to GLUD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GJB2 Rebecca Foulger Mode of inheritance for gene GJB2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.135 GHR Rebecca Foulger Source Expert Review Red was added to GHR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GDI1 Rebecca Foulger Source Expert Review Red was added to GDI1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GCH1 Rebecca Foulger Source Expert Review Red was added to GCH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GCDH Rebecca Foulger Source Expert Review Red was added to GCDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GATM Rebecca Foulger Source Expert Review Red was added to GATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GATAD2B Rebecca Foulger Source Expert Review Red was added to GATAD2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GAMT Rebecca Foulger Source Expert Review Red was added to GAMT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALT Rebecca Foulger Source Expert Review Red was added to GALT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALK1 Rebecca Foulger Source Expert Review Red was added to GALK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALE Rebecca Foulger Source Expert Review Red was added to GALE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALC Rebecca Foulger Source Expert Review Red was added to GALC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GABRB3 Rebecca Foulger Source Expert Review Red was added to GABRB3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FZD6 Rebecca Foulger Source Expert Review Red was added to FZD6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTSJ1 Rebecca Foulger Source Expert Review Red was added to FTSJ1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTL Rebecca Foulger Source Expert Review Red was added to FTL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTCD Rebecca Foulger Source Expert Review Red was added to FTCD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FRMD7 Rebecca Foulger Source Expert Review Red was added to FRMD7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXP1 Rebecca Foulger Source Expert Review Red was added to FOXP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXN1 Rebecca Foulger Source Expert Review Red was added to FOXN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXG1 Rebecca Foulger Source Expert Review Red was added to FOXG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FLVCR1 Rebecca Foulger Source Expert Review Red was added to FLVCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FLAD1 Rebecca Foulger Source Expert Review Red was added to FLAD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FKTN Rebecca Foulger Source Expert Review Red was added to FKTN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FHL1 Rebecca Foulger Source Expert Review Red was added to FHL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FH Rebecca Foulger Source Expert Review Red was added to FH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FGF12 Rebecca Foulger Source Expert Review Red was added to FGF12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FBP1 Rebecca Foulger Source Expert Review Red was added to FBP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ETHE1 Rebecca Foulger Source Expert Review Red was added to ETHE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ERCC6L2 Rebecca Foulger Source Expert Review Red was added to ERCC6L2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ENPP1 Rebecca Foulger Source Expert Review Red was added to ENPP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 EGR2 Rebecca Foulger Source Expert Review Red was added to EGR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DSPP Rebecca Foulger Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DPAGT1 Rebecca Foulger Source Expert Review Red was added to DPAGT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DOCK8 Rebecca Foulger Source Expert Review Red was added to DOCK8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DNMT3B Rebecca Foulger Source Expert Review Red was added to DNMT3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DNMT3A Rebecca Foulger Source Expert Review Red was added to DNMT3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DMP1 Rebecca Foulger Source Expert Review Red was added to DMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DLG3 Rebecca Foulger Source Expert Review Red was added to DLG3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DEPDC5 Rebecca Foulger Source Expert Review Red was added to DEPDC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDOST Rebecca Foulger Source Expert Review Red was added to DDOST.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDHD1 Rebecca Foulger Source Expert Review Red was added to DDHD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDC Rebecca Foulger Source Expert Review Red was added to DDC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDB2 Rebecca Foulger Source Expert Review Red was added to DDB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DBT Rebecca Foulger Source Expert Review Red was added to DBT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CYP1B1 Rebecca Foulger Source Expert Review Red was added to CYP1B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CYC1 Rebecca Foulger Source Expert Review Red was added to CYC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CTSA Rebecca Foulger Publications for gene CTSA were changed from to 7759227
Fetal anomalies v0.135 CTNS Rebecca Foulger Source Expert Review Red was added to CTNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CTNNB1 Rebecca Foulger Publications for gene CTNNB1 were changed from to 27915094
Fetal anomalies v0.135 CSTB Rebecca Foulger Source Expert Review Red was added to CSTB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CRX Rebecca Foulger Source Expert Review Red was added to CRX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CRB1 Rebecca Foulger Source Expert Review Red was added to CRB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CPS1 Rebecca Foulger Source Expert Review Red was added to CPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COMP Rebecca Foulger Source Expert Review Red was added to COMP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL9A3 Rebecca Foulger Source Expert Review Red was added to COL9A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL4A4 Rebecca Foulger Source Expert Review Red was added to COL4A4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL4A3 Rebecca Foulger Source Expert Review Red was added to COL4A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COG8 Rebecca Foulger Publications for gene COG8 were changed from to 30690882
Fetal anomalies v0.135 CLN8 Rebecca Foulger Source Expert Review Red was added to CLN8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLN5 Rebecca Foulger Source Expert Review Red was added to CLN5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLN3 Rebecca Foulger Source Expert Review Red was added to CLN3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLDN19 Rebecca Foulger Source Expert Review Red was added to CLDN19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CIB2 Rebecca Foulger Source Expert Review Red was added to CIB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHRNA4 Rebecca Foulger Source Expert Review Red was added to CHRNA4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHRDL1 Rebecca Foulger Source Expert Review Red was added to CHRDL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHD2 Rebecca Foulger Source Expert Review Red was added to CHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CCDC115 Rebecca Foulger Source Expert Review Red was added to CCDC115.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CC2D1A Rebecca Foulger Source Expert Review Red was added to CC2D1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CBS Rebecca Foulger Source Expert Review Red was added to CBS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CAD Rebecca Foulger Source Expert Review Red was added to CAD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 C4orf26 Rebecca Foulger Source Expert Review Red was added to C4orf26.
Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 C2orf71 Rebecca Foulger Source Expert Review Red was added to C2orf71.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BRWD3 Rebecca Foulger Source Expert Review Red was added to BRWD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BICD2 Rebecca Foulger Source Expert Review Red was added to BICD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BFSP2 Rebecca Foulger Source Expert Review Red was added to BFSP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BCKDHB Rebecca Foulger Source Expert Review Red was added to BCKDHB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BCKDHA Rebecca Foulger Source Expert Review Red was added to BCKDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATP8B1 Rebecca Foulger Source Expert Review Red was added to ATP8B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATP6V1B1 Rebecca Foulger Source Expert Review Red was added to ATP6V1B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATM Rebecca Foulger Source Expert Review Red was added to ATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ASL Rebecca Foulger Source Expert Review Red was added to ASL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ARG1 Rebecca Foulger Source Expert Review Red was added to ARG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 APTX Rebecca Foulger Source Expert Review Red was added to APTX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 APOPT1 Rebecca Foulger Source Expert Review Red was added to APOPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALS2 Rebecca Foulger Source Expert Review Red was added to ALS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALDH5A1 Rebecca Foulger Source Expert Review Red was added to ALDH5A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALDH4A1 Rebecca Foulger Source Expert Review Red was added to ALDH4A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AKR1D1 Rebecca Foulger Source Expert Review Red was added to AKR1D1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AK2 Rebecca Foulger Source Expert Review Red was added to AK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AIPL1 Rebecca Foulger Source Expert Review Red was added to AIPL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AGA Rebecca Foulger Source Expert Review Red was added to AGA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AFF2 Rebecca Foulger Source Expert Review Red was added to AFF2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ADA Rebecca Foulger Source Expert Review Red was added to ADA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACOX1 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 for gene: ACOX1
Fetal anomalies v0.135 ACAT1 Rebecca Foulger Source Expert Review Red was added to ACAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACADM Rebecca Foulger Source Expert Review Red was added to ACADM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACAD9 Rebecca Foulger Publications for gene ACAD9 were changed from to 26475292
Fetal anomalies v0.135 ABCB7 Rebecca Foulger Source Expert Review Red was added to ABCB7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ABCB11 Rebecca Foulger Source Expert Review Red was added to ABCB11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 TNXB Rebecca Foulger Source Expert Review Red was added to TNXB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SP110 Rebecca Foulger Source Expert Review Red was added to SP110.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SOST Rebecca Foulger Mode of inheritance for gene SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 for gene: SOST
Fetal anomalies v0.135 SGCA Rebecca Foulger Source Expert Review Red was added to SGCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SELENON Rebecca Foulger Source Expert Review Red was added to SELENON.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MSH6 Rebecca Foulger Mode of inheritance for gene MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 MSH2 Rebecca Foulger Mode of inheritance for gene MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 MLH1 Rebecca Foulger Mode of inheritance for gene MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 GRIP1 Rebecca Foulger Publications for gene GRIP1 were changed from to 22510445
Fetal anomalies v0.135 COL5A2 Rebecca Foulger Source Expert Review Red was added to COL5A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL5A1 Rebecca Foulger Source Expert Review Red was added to COL5A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CAVIN1 Rebecca Foulger Source Expert Review Red was added to CAVIN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AP3B1 Rebecca Foulger Source Expert Review Red was added to AP3B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AGRN Rebecca Foulger Source Expert Review Red was added to AGRN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 NYX Rebecca Foulger edited their review of gene: NYX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NYX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYCN Rebecca Foulger edited their review of gene: MYCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NUP107 Rebecca Foulger edited their review of gene: NUP107: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NUBPL Rebecca Foulger edited their review of gene: NUBPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NTRK1 Rebecca Foulger edited their review of gene: NTRK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NTRK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NT5C3A Rebecca Foulger edited their review of gene: NT5C3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NT5C3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NSDHL Rebecca Foulger edited their review of gene: NSDHL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NSD1 Rebecca Foulger edited their review of gene: NSD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NRAS Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR2F2 Rebecca Foulger edited their review of gene: NR2F2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR2F1 Rebecca Foulger edited their review of gene: NR2F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NR2F1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPR2 Rebecca Foulger edited their review of gene: NPR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHS2 Rebecca Foulger edited their review of gene: NPHS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPHS1 Rebecca Foulger edited their review of gene: NPHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHP4 Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHP4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPHP3 Rebecca Foulger edited their review of gene: NPHP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHP1 Rebecca Foulger edited their review of gene: NPHP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPC2 Rebecca Foulger edited their review of gene: NPC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPC1 Rebecca Foulger edited their review of gene: NPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NOTCH2 Rebecca Foulger edited their review of gene: NOTCH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NOG Rebecca Foulger edited their review of gene: NOG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NODAL Rebecca Foulger edited their review of gene: NODAL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NMNAT1 Rebecca Foulger edited their review of gene: NMNAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NMNAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NKX3-2 Rebecca Foulger edited their review of gene: NKX3-2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NKX2-5 Rebecca Foulger edited their review of gene: NKX2-5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NKX2-1 Rebecca Foulger edited their review of gene: NKX2-1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include: septal defect in some patients. Action taken: Demoted NKX2-1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NHS Rebecca Foulger edited their review of gene: NHS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NGLY1 Rebecca Foulger edited their review of gene: NGLY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NGLY1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NFIX Rebecca Foulger edited their review of gene: NFIX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NF1 Rebecca Foulger edited their review of gene: NF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEU1 Rebecca Foulger edited their review of gene: NEU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEK1 Rebecca Foulger edited their review of gene: NEK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NECTIN4 Rebecca Foulger edited their review of gene: NECTIN4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NDP Rebecca Foulger edited their review of gene: NDP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NDP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NDE1 Rebecca Foulger edited their review of gene: NDE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NBN Rebecca Foulger edited their review of gene: NBN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NBAS Rebecca Foulger edited their review of gene: NBAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NANS Rebecca Foulger edited their review of gene: NANS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NALCN Rebecca Foulger edited their review of gene: NALCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NAGS Rebecca Foulger edited their review of gene: NAGS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NAGS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NAGA Rebecca Foulger edited their review of gene: NAGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NACC1 Rebecca Foulger edited their review of gene: NACC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NAA10 Rebecca Foulger edited their review of gene: NAA10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYT1L Rebecca Foulger edited their review of gene: MYT1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYT1L gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYO5B Rebecca Foulger edited their review of gene: MYO5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYO5A Rebecca Foulger edited their review of gene: MYO5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYH9 Rebecca Foulger edited their review of gene: MYH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could potentially have a bleed in utero.; Changed rating: GREEN
Fetal anomalies v0.134 MUT Rebecca Foulger edited their review of gene: MUT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MUT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTRR Rebecca Foulger edited their review of gene: MTRR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTRR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTR Rebecca Foulger edited their review of gene: MTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTOR Rebecca Foulger edited their review of gene: MTOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTO1 Rebecca Foulger edited their review of gene: MTO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTM1 Rebecca Foulger edited their review of gene: MTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTHFR Rebecca Foulger edited their review of gene: MTHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTHFR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MSX2 Rebecca Foulger edited their review of gene: MSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSX1 Rebecca Foulger edited their review of gene: MSX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSL3 Rebecca Foulger edited their review of gene: MSL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.; Changed rating: GREEN; Changed publications: 30224647
Fetal anomalies v0.134 MRE11 Rebecca Foulger edited their review of gene: MRE11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MRE11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MPLKIP Rebecca Foulger edited their review of gene: MPLKIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Rare structural associations.; Changed rating: GREEN
Fetal anomalies v0.134 MPI Rebecca Foulger edited their review of gene: MPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MPI gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MPDU1 Rebecca Foulger edited their review of gene: MPDU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MOCS2 Rebecca Foulger edited their review of gene: MOCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MOCS1 Rebecca Foulger edited their review of gene: MOCS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MNX1 Rebecca Foulger edited their review of gene: MNX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMP21 Rebecca Foulger edited their review of gene: MMP21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMP13 Rebecca Foulger edited their review of gene: MMP13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMADHC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMACHC gene rating from Green to Red. Additional notes from clinical review: Hydrocephalus is probably secondary phenotype.; Changed rating: RED
Fetal anomalies v0.134 MMAB Rebecca Foulger edited their review of gene: MMAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MMAA Rebecca Foulger edited their review of gene: MMAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MLYCD Rebecca Foulger edited their review of gene: MLYCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MLC1 Rebecca Foulger edited their review of gene: MLC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MKS1 Rebecca Foulger edited their review of gene: MKS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MKKS Rebecca Foulger edited their review of gene: MKKS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MICU1 Rebecca Foulger edited their review of gene: MICU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MICU1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MGP Rebecca Foulger edited their review of gene: MGP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MGAT2 Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 MFSD8 Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MFSD2A Rebecca Foulger edited their review of gene: MFSD2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MFRP Rebecca Foulger edited their review of gene: MFRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MESP2 Rebecca Foulger edited their review of gene: MESP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormal vertebrae.; Changed rating: GREEN
Fetal anomalies v0.134 MEGF8 Rebecca Foulger edited their review of gene: MEGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MEGF10 Rebecca Foulger edited their review of gene: MEGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MEF2C Rebecca Foulger edited their review of gene: MEF2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural brain phenotypes.; Changed rating: GREEN
Fetal anomalies v0.134 MED12 Rebecca Foulger edited their review of gene: MED12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MECP2 Rebecca Foulger edited their review of gene: MECP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MECP2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MCPH1 Rebecca Foulger edited their review of gene: MCPH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Primary microcephaly.; Changed rating: GREEN
Fetal anomalies v0.134 MCOLN1 Rebecca Foulger edited their review of gene: MCOLN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Dysplastic corpus callosum.; Changed rating: GREEN
Fetal anomalies v0.134 MCEE Rebecca Foulger edited their review of gene: MCEE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCEE gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MCCC2 Rebecca Foulger edited their review of gene: MCCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MCCC1 Rebecca Foulger edited their review of gene: MCCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MC2R Rebecca Foulger edited their review of gene: MC2R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MC2R gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MATN3 Rebecca Foulger edited their review of gene: MATN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MASP1 Rebecca Foulger edited their review of gene: MASP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAPRE2 Rebecca Foulger edited their review of gene: MAPRE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAP3K1 Rebecca Foulger edited their review of gene: MAP3K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAP2K2 Rebecca Foulger edited their review of gene: MAP2K2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAP2K1 Rebecca Foulger edited their review of gene: MAP2K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAF Rebecca Foulger edited their review of gene: MAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MAB21L2 Rebecca Foulger edited their review of gene: MAB21L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LYST Rebecca Foulger edited their review of gene: LYST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Potentially hydrops.; Changed rating: GREEN
Fetal anomalies v0.134 LTBP3 Rebecca Foulger edited their review of gene: LTBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LTBP2 Rebecca Foulger edited their review of gene: LTBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LTBP2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 LRRC6 Rebecca Foulger edited their review of gene: LRRC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LRP5 Rebecca Foulger edited their review of gene: LRP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel with biallelic mode of inheritance only. Action taken: Changed mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 LRP2 Rebecca Foulger edited their review of gene: LRP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LMX1B Rebecca Foulger edited their review of gene: LMX1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LMBRD1 Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LMBRD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 LIG4 Rebecca Foulger edited their review of gene: LIG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Microcephaly.; Changed rating: GREEN
Fetal anomalies v0.134 LHX4 Rebecca Foulger edited their review of gene: LHX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormalities of the sella turcica; Changed rating: GREEN
Fetal anomalies v0.134 LHX3 Rebecca Foulger edited their review of gene: LHX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Small pituitary.; Changed rating: GREEN
Fetal anomalies v0.134 LFNG Rebecca Foulger edited their review of gene: LFNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LEMD3 Rebecca Foulger edited their review of gene: LEMD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LEMD3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 LBR Rebecca Foulger edited their review of gene: LBR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LARP7 Rebecca Foulger edited their review of gene: LARP7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LARGE1 Rebecca Foulger edited their review of gene: LARGE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LAMC3 Rebecca Foulger edited their review of gene: LAMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LAMA2 Rebecca Foulger edited their review of gene: LAMA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LAMA1 Rebecca Foulger edited their review of gene: LAMA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 L2HGDH Rebecca Foulger edited their review of gene: L2HGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KRAS Rebecca Foulger edited their review of gene: KRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KMT5B Rebecca Foulger edited their review of gene: KMT5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Single report of talipes. Action taken: Demoted KMT5B gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 KMT2A Rebecca Foulger edited their review of gene: KMT2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KLHL40 Rebecca Foulger edited their review of gene: KLHL40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KLF1 Rebecca Foulger edited their review of gene: KLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hydrops.; Changed rating: GREEN
Fetal anomalies v0.134 KIF7 Rebecca Foulger edited their review of gene: KIF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF22 Rebecca Foulger edited their review of gene: KIF22: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF1BP Rebecca Foulger edited their review of gene: KIF1BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF1A Rebecca Foulger edited their review of gene: KIF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIF11 Rebecca Foulger edited their review of gene: KIF11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KIAA0586 Rebecca Foulger edited their review of gene: KIAA0586: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KDM6A Rebecca Foulger edited their review of gene: KDM6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KDM5C Rebecca Foulger edited their review of gene: KDM5C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KCNQ2 Rebecca Foulger edited their review of gene: KCNQ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNQ2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KCNC1 Rebecca Foulger edited their review of gene: KCNC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KCNB1 Rebecca Foulger edited their review of gene: KCNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNB1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KCNA2 Rebecca Foulger edited their review of gene: KCNA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNA2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 KAT6B Rebecca Foulger edited their review of gene: KAT6B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KAT6A Rebecca Foulger edited their review of gene: KAT6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KANSL1 Rebecca Foulger edited their review of gene: KANSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 JAK3 Rebecca Foulger edited their review of gene: JAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAK3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 JAGN1 Rebecca Foulger edited their review of gene: JAGN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAGN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 JAG1 Rebecca Foulger edited their review of gene: JAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IVD Rebecca Foulger edited their review of gene: IVD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IVD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ITGA7 Rebecca Foulger edited their review of gene: ITGA7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ITGA7 gene rating from Green to Red.; Changed rating: RED; Changed publications: 9590299
Fetal anomalies v0.134 ITGA3 Rebecca Foulger edited their review of gene: ITGA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ISPD Rebecca Foulger edited their review of gene: ISPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IRF6 Rebecca Foulger edited their review of gene: IRF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INPPL1 Rebecca Foulger edited their review of gene: INPPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INPP5E Rebecca Foulger edited their review of gene: INPP5E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IMPAD1 Rebecca Foulger edited their review of gene: IMPAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IL1RAPL1 Rebecca Foulger edited their review of gene: IL1RAPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IKBKG Rebecca Foulger edited their review of gene: IKBKG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both XLD and XLR modes of inheritance; although there is less evidence for structural features with XLR, there are some reports.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 IHH Rebecca Foulger edited their review of gene: IHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IGSF1 Rebecca Foulger edited their review of gene: IGSF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IGSF1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 IGF2 Rebecca Foulger edited their review of gene: IGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT80 Rebecca Foulger edited their review of gene: IFT80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT43 Rebecca Foulger edited their review of gene: IFT43: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT172 Rebecca Foulger edited their review of gene: IFT172: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT140 Rebecca Foulger edited their review of gene: IFT140: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFT122 Rebecca Foulger edited their review of gene: IFT122: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IFITM5 Rebecca Foulger edited their review of gene: IFITM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IDS Rebecca Foulger edited their review of gene: IDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HYLS1 Rebecca Foulger edited their review of gene: HYLS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HYAL1 Rebecca Foulger edited their review of gene: HYAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HYAL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HUWE1 Rebecca Foulger edited their review of gene: HUWE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSPG2 Rebecca Foulger edited their review of gene: HSPG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSF4 Rebecca Foulger edited their review of gene: HSF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSD3B7 Rebecca Foulger edited their review of gene: HSD3B7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD3B7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HSD17B4 Rebecca Foulger edited their review of gene: HSD17B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSD17B10 Rebecca Foulger edited their review of gene: HSD17B10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD17B10 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HR Rebecca Foulger edited their review of gene: HR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HPSE2 Rebecca Foulger edited their review of gene: HPSE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HPS1 Rebecca Foulger edited their review of gene: HPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPS1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HPRT1 Rebecca Foulger edited their review of gene: HPRT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPRT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HPGD Rebecca Foulger edited their review of gene: HPGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPGD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HOXD13 Rebecca Foulger edited their review of gene: HOXD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HOXC13 Rebecca Foulger edited their review of gene: HOXC13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HOXC13 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HOXA13 Rebecca Foulger edited their review of gene: HOXA13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HOXA1 Rebecca Foulger edited their review of gene: HOXA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HNRNPU Rebecca Foulger edited their review of gene: HNRNPU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HNRNPU gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HNF4A Rebecca Foulger edited their review of gene: HNF4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HNF1B Rebecca Foulger edited their review of gene: HNF1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HMGCS2 Rebecca Foulger edited their review of gene: HMGCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HMGCL Rebecca Foulger edited their review of gene: HMGCL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HLCS Rebecca Foulger edited their review of gene: HLCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HLCS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HIVEP2 Rebecca Foulger edited their review of gene: HIVEP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HINT1 Rebecca Foulger edited their review of gene: HINT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HINT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HIBCH Rebecca Foulger edited their review of gene: HIBCH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HGSNAT Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HGSNAT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HEXB Rebecca Foulger edited their review of gene: HEXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HEXA Rebecca Foulger edited their review of gene: HEXA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HECW2 Rebecca Foulger edited their review of gene: HECW2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HECW2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HDAC8 Rebecca Foulger edited their review of gene: HDAC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HDAC4 Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HDAC4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HCN1 Rebecca Foulger edited their review of gene: HCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HCFC1 Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCFC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HAX1 Rebecca Foulger edited their review of gene: HAX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HAX1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HADHA Rebecca Foulger edited their review of gene: HADHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HADH Rebecca Foulger edited their review of gene: HADH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HADH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 HACE1 Rebecca Foulger edited their review of gene: HACE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HACE1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GUSB Rebecca Foulger edited their review of gene: GUSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GUCY2C Rebecca Foulger edited their review of gene: GUCY2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GTPBP3 Rebecca Foulger edited their review of gene: GTPBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GTF2H5 Rebecca Foulger edited their review of gene: GTF2H5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRM6 Rebecca Foulger edited their review of gene: GRM6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRM6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRIN2B Rebecca Foulger edited their review of gene: GRIN2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRIN2A Rebecca Foulger edited their review of gene: GRIN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIN2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRIN1 Rebecca Foulger edited their review of gene: GRIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRIK2 Rebecca Foulger edited their review of gene: GRIK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIK2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRIA3 Rebecca Foulger edited their review of gene: GRIA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIA3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GRHL3 Rebecca Foulger edited their review of gene: GRHL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GPSM2 Rebecca Foulger edited their review of gene: GPSM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GPC3 Rebecca Foulger edited their review of gene: GPC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GORAB Rebecca Foulger edited their review of gene: GORAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNS Rebecca Foulger edited their review of gene: GNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNPTG Rebecca Foulger edited their review of gene: GNPTG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNPTAB Rebecca Foulger edited their review of gene: GNPTAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNPAT Rebecca Foulger edited their review of gene: GNPAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNB1 Rebecca Foulger edited their review of gene: GNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNAS Rebecca Foulger edited their review of gene: GNAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GNAO1 Rebecca Foulger edited their review of gene: GNAO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May detect thin corpus callosum pre-natally.; Changed rating: GREEN
Fetal anomalies v0.134 GNAI3 Rebecca Foulger edited their review of gene: GNAI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GMPPB Rebecca Foulger edited their review of gene: GMPPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GMPPA Rebecca Foulger edited their review of gene: GMPPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GMPPA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GLUL Rebecca Foulger edited their review of gene: GLUL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLUD1 Rebecca Foulger edited their review of gene: GLUD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted GLUD1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GLIS3 Rebecca Foulger edited their review of gene: GLIS3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLI3 Rebecca Foulger edited their review of gene: GLI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLI2 Rebecca Foulger edited their review of gene: GLI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLE1 Rebecca Foulger edited their review of gene: GLE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GLDC Rebecca Foulger edited their review of gene: GLDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Absent corpus callosumis a variable phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 GJC2 Rebecca Foulger edited their review of gene: GJC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Onset of Lymphatic malformation 3 can be at birth (monoallelic mode of inheritance). Action taken: Kept mode of inheritance as 'both monoallelic and biallelic' on advice from Lyn Chitty.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 GJB2 Rebecca Foulger edited their review of gene: GJB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel on basis of possible congenital digit constrictions and no harm done. Change MOI to monoallelic only: Recessive inheritance is attributed to the deafness phenotype, which would not be detected prenatally. Action taken: Changed mode of inheritance from 'both biallelic and monoallelic' to 'monoallelic' only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.134 GJA8 Rebecca Foulger edited their review of gene: GJA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 GJA3 Rebecca Foulger edited their review of gene: GJA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 GJA1 Rebecca Foulger edited their review of gene: GJA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with monoallelic (Atrioventricular septal defects) and biallelic (Hypoplastic left heart syndrome 1) inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 GHR Rebecca Foulger edited their review of gene: GHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Baby is normal size at birth and fails to grow afterwards, so not detectable prenatally. Action taken: Demoted GHR gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GFM1 Rebecca Foulger edited their review of gene: GFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Enough structural features.; Changed rating: GREEN
Fetal anomalies v0.134 GFAP Rebecca Foulger edited their review of gene: GFAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GDI1 Rebecca Foulger edited their review of gene: GDI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No associated structural phenotypes. Action taken: Demoted GDI1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GDF6 Rebecca Foulger edited their review of gene: GDF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GDF5 Rebecca Foulger edited their review of gene: GDF5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GCH1 Rebecca Foulger edited their review of gene: GCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCH1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GCDH Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCDH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GATM Rebecca Foulger edited their review of gene: GATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATM gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GATAD2B Rebecca Foulger edited their review of gene: GATAD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATAD2B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GATA6 Rebecca Foulger edited their review of gene: GATA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GATA4 Rebecca Foulger edited their review of gene: GATA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GAMT Rebecca Foulger edited their review of gene: GAMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GAMT gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GALT Rebecca Foulger edited their review of gene: GALT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GALT gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GALNS Rebecca Foulger edited their review of gene: GALNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GALK1 Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Just cataracts, preventable with early dietary management so not detectable prentally. Action taken: Demoted GALK1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 GALE Rebecca Foulger edited their review of gene: GALE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALE gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GALC Rebecca Foulger edited their review of gene: GALC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GABRB3 Rebecca Foulger edited their review of gene: GABRB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early Infantile Epileptic encephalopathy (EIEE) but no structural phenotypes. Action taken: Demoted GABRB3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FZD6 Rebecca Foulger edited their review of gene: FZD6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FZD6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FYCO1 Rebecca Foulger edited their review of gene: FYCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FTSJ1 Rebecca Foulger edited their review of gene: FTSJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No additional structural features. Action taken: Demoted FTSJ1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FTL Rebecca Foulger edited their review of gene: FTL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FTCD Rebecca Foulger edited their review of gene: FTCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTCD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FRMD7 Rebecca Foulger edited their review of gene: FRMD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FRMD7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FREM2 Rebecca Foulger edited their review of gene: FREM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FREM1 Rebecca Foulger edited their review of gene: FREM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FRAS1 Rebecca Foulger edited their review of gene: FRAS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXRED1 Rebecca Foulger edited their review of gene: FOXRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXP1 Rebecca Foulger edited their review of gene: FOXP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FOXN1 Rebecca Foulger edited their review of gene: FOXN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FOXG1 Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotypes only. Action taken: Demoted FOXG1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FOXF1 Rebecca Foulger edited their review of gene: FOXF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXE3 Rebecca Foulger edited their review of gene: FOXE3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXE1 Rebecca Foulger edited their review of gene: FOXE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXC2 Rebecca Foulger edited their review of gene: FOXC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXC1 Rebecca Foulger edited their review of gene: FOXC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOLR1 Rebecca Foulger edited their review of gene: FOLR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLVCR2 Rebecca Foulger edited their review of gene: FLVCR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLVCR1 Rebecca Foulger edited their review of gene: FLVCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FLVCR1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FLNB Rebecca Foulger edited their review of gene: FLNB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLAD1 Rebecca Foulger edited their review of gene: FLAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable prenatally. Action taken: Demoted FLAD1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FKTN Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FKTN gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FKRP Rebecca Foulger edited their review of gene: FKRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FKBP14 Rebecca Foulger edited their review of gene: FKBP14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FHL1 Rebecca Foulger edited their review of gene: FHL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Adult onset. Action taken: Demoted FHL1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FH Rebecca Foulger edited their review of gene: FH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FGFR1 Rebecca Foulger edited their review of gene: FGFR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGF3 Rebecca Foulger edited their review of gene: FGF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGF12 Rebecca Foulger edited their review of gene: FGF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early brain imaging is normal. Action taken: Demoted FGF12 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 FGF10 Rebecca Foulger edited their review of gene: FGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGD1 Rebecca Foulger edited their review of gene: FGD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FBXL4 Rebecca Foulger edited their review of gene: FBXL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FBP1 Rebecca Foulger edited their review of gene: FBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 FBN2 Rebecca Foulger edited their review of gene: FBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAT4 Rebecca Foulger edited their review of gene: FAT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAR1 Rebecca Foulger edited their review of gene: FAR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCI Rebecca Foulger edited their review of gene: FANCI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCG Rebecca Foulger edited their review of gene: FANCG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCF Rebecca Foulger edited their review of gene: FANCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCE Rebecca Foulger edited their review of gene: FANCE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCD2 Rebecca Foulger edited their review of gene: FANCD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCC Rebecca Foulger edited their review of gene: FANCC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCA Rebecca Foulger edited their review of gene: FANCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM58A Rebecca Foulger edited their review of gene: FAM58A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM20C Rebecca Foulger edited their review of gene: FAM20C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM20A Rebecca Foulger edited their review of gene: FAM20A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM126A Rebecca Foulger edited their review of gene: FAM126A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAM111A Rebecca Foulger edited their review of gene: FAM111A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FAH Rebecca Foulger edited their review of gene: FAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EZH2 Rebecca Foulger edited their review of gene: EZH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EYA1 Rebecca Foulger edited their review of gene: EYA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EXT2 Rebecca Foulger edited their review of gene: EXT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EXT1 Rebecca Foulger edited their review of gene: EXT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EXOSC3 Rebecca Foulger edited their review of gene: EXOSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EVC Rebecca Foulger edited their review of gene: EVC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ETHE1 Rebecca Foulger edited their review of gene: ETHE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ETHE1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ETFDH Rebecca Foulger edited their review of gene: ETFDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ETFB Rebecca Foulger edited their review of gene: ETFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ETFA Rebecca Foulger edited their review of gene: ETFA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ESCO2 Rebecca Foulger edited their review of gene: ESCO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERF Rebecca Foulger edited their review of gene: ERF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC8 Rebecca Foulger edited their review of gene: ERCC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC6L2 Rebecca Foulger edited their review of gene: ERCC6L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ERCC6L2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ERCC6 Rebecca Foulger edited their review of gene: ERCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC3 Rebecca Foulger edited their review of gene: ERCC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ERCC2 Rebecca Foulger edited their review of gene: ERCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EPG5 Rebecca Foulger edited their review of gene: EPG5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EP300 Rebecca Foulger edited their review of gene: EP300: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EOGT Rebecca Foulger edited their review of gene: EOGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ENPP1 Rebecca Foulger edited their review of gene: ENPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable in utero. Action taken: Demoted ENPP1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ELOVL4 Rebecca Foulger edited their review of gene: ELOVL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ELN Rebecca Foulger edited their review of gene: ELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ELAC2 Rebecca Foulger edited their review of gene: ELAC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance to avoid picking up susceptibility to prostate cancer as an incidental finding.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 EIF4A3 Rebecca Foulger edited their review of gene: EIF4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EIF2AK3 Rebecca Foulger edited their review of gene: EIF2AK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EHMT1 Rebecca Foulger edited their review of gene: EHMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EGR2 Rebecca Foulger edited their review of gene: EGR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted EGR2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 EFTUD2 Rebecca Foulger edited their review of gene: EFTUD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EFNB1 Rebecca Foulger edited their review of gene: EFNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EDNRB Rebecca Foulger edited their review of gene: EDNRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EDNRA Rebecca Foulger edited their review of gene: EDNRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EDA Rebecca Foulger edited their review of gene: EDA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ECEL1 Rebecca Foulger edited their review of gene: ECEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EBP Rebecca Foulger edited their review of gene: EBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EBF3 Rebecca Foulger edited their review of gene: EBF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYRK1A Rebecca Foulger edited their review of gene: DYRK1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYNC1H1 Rebecca Foulger edited their review of gene: DYNC1H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYM Rebecca Foulger edited their review of gene: DYM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DVL3 Rebecca Foulger edited their review of gene: DVL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DVL1 Rebecca Foulger edited their review of gene: DVL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DSTYK Rebecca Foulger edited their review of gene: DSTYK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DSPP Rebecca Foulger edited their review of gene: DSPP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DSPP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DPM1 Rebecca Foulger edited their review of gene: DPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DPAGT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DOLK Rebecca Foulger edited their review of gene: DOLK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DOCK8 Rebecca Foulger edited their review of gene: DOCK8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DOCK8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DNAAF4 Rebecca Foulger edited their review of gene: DNAAF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DNAAF3 Rebecca Foulger edited their review of gene: DNAAF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DMPK Rebecca Foulger edited their review of gene: DMPK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Note of caution that repeat expansion is clinically-relevant and not detectable on exome. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding.; Changed rating: GREEN
Fetal anomalies v0.134 DMP1 Rebecca Foulger edited their review of gene: DMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DMP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DLL4 Rebecca Foulger edited their review of gene: DLL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DLL3 Rebecca Foulger edited their review of gene: DLL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DLG3 Rebecca Foulger edited their review of gene: DLG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted DLG3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 DIS3L2 Rebecca Foulger edited their review of gene: DIS3L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DHODH Rebecca Foulger edited their review of gene: DHODH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DHFR Rebecca Foulger edited their review of gene: DHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable: can manage postnatally.; Changed rating: GREEN
Fetal anomalies v0.134 DHCR7 Rebecca Foulger edited their review of gene: DHCR7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Lots of phenotypes that would present prenatally including ambiguous genitalia.; Changed rating: GREEN
Fetal anomalies v0.134 DHCR24 Rebecca Foulger edited their review of gene: DHCR24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DEPDC5 Rebecca Foulger edited their review of gene: DEPDC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Epilepsy but no structural brain defects, so probably not detectable prenatally. Action taken: Demoted DEPDC5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDX11 Rebecca Foulger edited their review of gene: DDX11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital heart defects reported.; Changed rating: GREEN
Fetal anomalies v0.134 DDR2 Rebecca Foulger edited their review of gene: DDR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DDOST Rebecca Foulger edited their review of gene: DDOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDOST gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDHD1 Rebecca Foulger edited their review of gene: DDHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDHD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDC Rebecca Foulger edited their review of gene: DDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DDB2 Rebecca Foulger edited their review of gene: DDB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDB2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DCX Rebecca Foulger edited their review of gene: DCX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DCHS1 Rebecca Foulger edited their review of gene: DCHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DBT Rebecca Foulger edited their review of gene: DBT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DBT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 DARS Rebecca Foulger edited their review of gene: DARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear if the phenotype will present pre-natally, include on the panel due to thinning of the corpus callosumand it won't do any harm to include on the panel.; Changed rating: GREEN
Fetal anomalies v0.134 DAG1 Rebecca Foulger edited their review of gene: DAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural phenotypes; Changed rating: GREEN
Fetal anomalies v0.134 CYP2U1 Rebecca Foulger edited their review of gene: CYP2U1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Possibility of fetal phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 CYP1B1 Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No features beyond glaucoma. Action taken: Demoted CYP1B1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CYC1 Rebecca Foulger edited their review of gene: CYC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset of episodic lactic acidosis etc is in childhood. Action taken: Demoted CYC1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CUL7 Rebecca Foulger edited their review of gene: CUL7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Pre- and postnatal growth retardation reported.; Changed rating: GREEN
Fetal anomalies v0.134 CUL4B Rebecca Foulger edited their review of gene: CUL4B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CTSK Rebecca Foulger edited their review of gene: CTSK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Aplasia of clavicle reported amongst OMIM phenotypes.; Changed rating: GREEN
Fetal anomalies v0.134 CTSD Rebecca Foulger edited their review of gene: CTSD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can have very early onset in infancy (some reported patients died within days of birth).; Changed rating: GREEN
Fetal anomalies v0.134 CTSA Rebecca Foulger edited their review of gene: CTSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:7759227 (Landau et al, 1995) reports that galactosialidosis can cause non-immune hydrops.; Changed rating: GREEN; Changed publications: 7759227
Fetal anomalies v0.134 CTNS Rebecca Foulger edited their review of gene: CTNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CTNS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CTNNB1 Rebecca Foulger edited their review of gene: CTNNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Intrauterine growth restriction (IUGR) reported in 3 patients in PMID:27915094 (Table 1).; Changed rating: GREEN; Changed publications: 27915094
Fetal anomalies v0.134 CTCF Rebecca Foulger edited their review of gene: CTCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Some structural phenotypes.; Changed rating: GREEN
Fetal anomalies v0.134 CTC1 Rebecca Foulger edited their review of gene: CTC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: The phenotype is progressive, but include on the panel because it includes Intrauterine growth restriction (IUGR).; Changed rating: GREEN
Fetal anomalies v0.134 CSTB Rebecca Foulger edited their review of gene: CSTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CSTB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CSPP1 Rebecca Foulger edited their review of gene: CSPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CSNK2A1 Rebecca Foulger edited their review of gene: CSNK2A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRYGD Rebecca Foulger edited their review of gene: CRYGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYGC Rebecca Foulger edited their review of gene: CRYGC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBB3 Rebecca Foulger edited their review of gene: CRYBB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBB2 Rebecca Foulger edited their review of gene: CRYBB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBB1 Rebecca Foulger edited their review of gene: CRYBB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBA4 Rebecca Foulger edited their review of gene: CRYBA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYBA1 Rebecca Foulger edited their review of gene: CRYBA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
Fetal anomalies v0.134 CRYAA Rebecca Foulger edited their review of gene: CRYAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both AD and AR modes of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 CRX Rebecca Foulger edited their review of gene: CRX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype presents later. Action taken: Demoted CRX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CREBBP Rebecca Foulger edited their review of gene: CREBBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Several dysmorphic features.; Changed rating: GREEN
Fetal anomalies v0.134 CRB2 Rebecca Foulger edited their review of gene: CRB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRB1 Rebecca Foulger edited their review of gene: CRB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Mainly retinal phenotype. You can see cataracts on a pre-natal scan but in this case the cataracts are progressive and appear later. Action taken: Demoted CRB1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CPS1 Rebecca Foulger edited their review of gene: CPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not detectable pre-natally- the baby would present normally but deterioriate quickly after. Action taken: Demoted CPS1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COX7B Rebecca Foulger edited their review of gene: COX7B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COMP Rebecca Foulger edited their review of gene: COMP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COMP gene rating from Green to Red. Additional notes from clinical review: Onset is later.; Changed rating: RED
Fetal anomalies v0.134 COLEC11 Rebecca Foulger edited their review of gene: COLEC11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL9A3 Rebecca Foulger edited their review of gene: COL9A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COL9A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL9A2 Rebecca Foulger edited their review of gene: COL9A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL9A1 Rebecca Foulger edited their review of gene: COL9A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL6A3 Rebecca Foulger edited their review of gene: COL6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL6A1 Rebecca Foulger edited their review of gene: COL6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL4A4 Rebecca Foulger edited their review of gene: COL4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COL4A4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL4A3BP Rebecca Foulger edited their review of gene: COL4A3BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL4A3 Rebecca Foulger edited their review of gene: COL4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant Action taken: Demoted COL4A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL18A1 Rebecca Foulger edited their review of gene: COL18A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL11A2 Rebecca Foulger edited their review of gene: COL11A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL11A1 Rebecca Foulger edited their review of gene: COL11A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL10A1 Rebecca Foulger edited their review of gene: COL10A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COG8 Rebecca Foulger edited their review of gene: COG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:30690882 reports the first antenatal case.; Changed rating: GREEN; Changed publications: 30690882
Fetal anomalies v0.134 COG7 Rebecca Foulger edited their review of gene: COG7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COG4 Rebecca Foulger edited their review of gene: COG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COG1 Rebecca Foulger edited their review of gene: COG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COASY Rebecca Foulger edited their review of gene: COASY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CNTNAP2 Rebecca Foulger edited their review of gene: CNTNAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CNOT3 Rebecca Foulger edited their review of gene: CNOT3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Polyhydramnios; Changed rating: GREEN
Fetal anomalies v0.134 CLPB Rebecca Foulger edited their review of gene: CLPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Presentation at birth/prenatal in severe forms.; Changed rating: GREEN
Fetal anomalies v0.134 CLN8 Rebecca Foulger edited their review of gene: CLN8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN8 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLN5 Rebecca Foulger edited their review of gene: CLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN5 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLN3 Rebecca Foulger edited their review of gene: CLN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Juvenile onset. Action taken: Demoted CLN3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLDN19 Rebecca Foulger edited their review of gene: CLDN19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not detectable prenatally (unlikely to see coloboma). Action taken: Demoted CLDN19 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLCN7 Rebecca Foulger edited their review of gene: CLCN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CKAP2L Rebecca Foulger edited their review of gene: CKAP2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotypes include cerebellar atrophy, Ventricular septal defect (VSD), Intrauterine growth restriction (IUGR) and microcephaly.; Changed rating: GREEN
Fetal anomalies v0.134 CIB2 Rebecca Foulger edited their review of gene: CIB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The phenotypes of deafness and Retinitis pigmentosa (part of Usher syndrome, type IJ) would not present prenatally. Action taken: Demoted CIB2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CHUK Rebecca Foulger edited their review of gene: CHUK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHSY1 Rebecca Foulger edited their review of gene: CHSY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHST3 Rebecca Foulger edited their review of gene: CHST3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHST14 Rebecca Foulger edited their review of gene: CHST14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause Arthrogryposis.; Changed rating: GREEN
Fetal anomalies v0.134 CHRNG Rebecca Foulger edited their review of gene: CHRNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHRNA4 Rebecca Foulger edited their review of gene: CHRNA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CHRNA4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CHRDL1 Rebecca Foulger edited their review of gene: CHRDL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The megalocornea phenotype would not be detected pre-natally. Action taken: Demoted CHRDL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CHD7 Rebecca Foulger edited their review of gene: CHD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHD4 Rebecca Foulger edited their review of gene: CHD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHD2 Rebecca Foulger edited their review of gene: CHD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype does not include structural anomalies for detecting pre-natally. Action taken: Demoted CHD2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CHAMP1 Rebecca Foulger edited their review of gene: CHAMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP83 Rebecca Foulger edited their review of gene: CEP83: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP57 Rebecca Foulger edited their review of gene: CEP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP41 Rebecca Foulger edited their review of gene: CEP41: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP290 Rebecca Foulger edited their review of gene: CEP290: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP152 Rebecca Foulger edited their review of gene: CEP152: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CEP104 Rebecca Foulger edited their review of gene: CEP104: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDKN1C Rebecca Foulger edited their review of gene: CDKN1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Point mutations in CDKN1C can cause phenotypes, and be picked up by this panel. OMIM confirms that CDKN1C is paternally-imprinted with preferential expression of the maternal allele.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.134 CDKL5 Rebecca Foulger edited their review of gene: CDKL5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes progressive microcephaly (which may or may not be detectable in a fetus) plus subtle dysmorphic features and small feet.; Changed rating: GREEN
Fetal anomalies v0.134 CDK13 Rebecca Foulger edited their review of gene: CDK13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDH3 Rebecca Foulger edited their review of gene: CDH3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDC6 Rebecca Foulger edited their review of gene: CDC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDC45 Rebecca Foulger edited their review of gene: CDC45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCND2 Rebecca Foulger edited their review of gene: CCND2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC40 Rebecca Foulger edited their review of gene: CCDC40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC39 Rebecca Foulger edited their review of gene: CCDC39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC115 Rebecca Foulger edited their review of gene: CCDC115: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CCDC115 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CCDC114 Rebecca Foulger edited their review of gene: CCDC114: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCDC103 Rebecca Foulger edited their review of gene: CCDC103: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CCBE1 Rebecca Foulger edited their review of gene: CCBE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CC2D2A Rebecca Foulger edited their review of gene: CC2D2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CC2D1A Rebecca Foulger edited their review of gene: CC2D1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant Additional notes from clinical review: Phenotype doesn't include structural abnormalities. Action taken: Demoted CC2D1A gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CBS Rebecca Foulger edited their review of gene: CBS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CBS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CBL Rebecca Foulger edited their review of gene: CBL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CASK Rebecca Foulger edited their review of gene: CASK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.134 CAD Rebecca Foulger edited their review of gene: CAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset is in infancy and progressive, so wouldn't see pre-natally. Action taken: Demoted CAD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CACNA1C Rebecca Foulger edited their review of gene: CACNA1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital abnormalities.; Changed rating: GREEN
Fetal anomalies v0.134 CA8 Rebecca Foulger edited their review of gene: CA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CA2 Rebecca Foulger edited their review of gene: CA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 C8orf37 Rebecca Foulger edited their review of gene: C8orf37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 C5orf42 Rebecca Foulger edited their review of gene: C5orf42: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 C4orf26 Rebecca Foulger edited their review of gene: C4orf26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted C4orf26 (ODAPH) gene rating from Green to Red.; Changed rating: RED; Changed phenotypes: Amelogenesis imperfecta, type IIA4, 614832
Fetal anomalies v0.134 C2orf71 Rebecca Foulger edited their review of gene: C2orf71: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Retinitis pigmentosa has adult onset with two patients reported with an earlier onset. Action taken: Demoted C2orf71 (PCARE) gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 C21orf2 Rebecca Foulger edited their review of gene: C21orf2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Arthrogryposis reported amongst the phenotypes in OMIM.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 C12orf65 Rebecca Foulger edited their review of gene: C12orf65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Arthrogryposis reported amongst the phenotypes in OMIM.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 BUB1B Rebecca Foulger edited their review of gene: BUB1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural defects.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 BTD Rebecca Foulger edited their review of gene: BTD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Postnatal neurological phenotype, but also relevant for fetal panel.; Changed rating: GREEN
Fetal anomalies v0.134 BSND Rebecca Foulger edited their review of gene: BSND: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BRWD3 Rebecca Foulger edited their review of gene: BRWD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BRWD3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BRPF1 Rebecca Foulger edited their review of gene: BRPF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes club feet.; Changed rating: GREEN
Fetal anomalies v0.134 BRIP1 Rebecca Foulger edited their review of gene: BRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BRAF Rebecca Foulger edited their review of gene: BRAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMPR1B Rebecca Foulger edited their review of gene: BMPR1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMPER Rebecca Foulger edited their review of gene: BMPER: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMP4 Rebecca Foulger edited their review of gene: BMP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BLM Rebecca Foulger edited their review of gene: BLM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Phenotypes include microcephaly and growth restriction.; Changed rating: GREEN
Fetal anomalies v0.134 BIN1 Rebecca Foulger edited their review of gene: BIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BICD2 Rebecca Foulger edited their review of gene: BICD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BICD2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BHLHA9 Rebecca Foulger edited their review of gene: BHLHA9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BFSP2 Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BFSP2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BCOR Rebecca Foulger edited their review of gene: BCOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BCL11A Rebecca Foulger edited their review of gene: BCL11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BCKDHB Rebecca Foulger edited their review of gene: BCKDHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BCKDHB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BCKDHA Rebecca Foulger edited their review of gene: BCKDHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BCKDHA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 BCAP31 Rebecca Foulger edited their review of gene: BCAP31: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS9 Rebecca Foulger edited their review of gene: BBS9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS7 Rebecca Foulger edited their review of gene: BBS7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS5 Rebecca Foulger edited their review of gene: BBS5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS2 Rebecca Foulger edited their review of gene: BBS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS12 Rebecca Foulger edited their review of gene: BBS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS10 Rebecca Foulger edited their review of gene: BBS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BBS1 Rebecca Foulger edited their review of gene: BBS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 B4GALT7 Rebecca Foulger edited their review of gene: B4GALT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 B3GALT6 Rebecca Foulger edited their review of gene: B3GALT6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATRX Rebecca Foulger edited their review of gene: ATRX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATP8B1 Rebecca Foulger edited their review of gene: ATP8B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP8B1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ATP7A Rebecca Foulger edited their review of gene: ATP7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATP6V1B1 Rebecca Foulger edited their review of gene: ATP6V1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP6V1B1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ATM Rebecca Foulger edited their review of gene: ATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATM gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ATIC Rebecca Foulger edited their review of gene: ATIC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASXL1 Rebecca Foulger edited their review of gene: ASXL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASPM Rebecca Foulger edited their review of gene: ASPM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASPA Rebecca Foulger edited their review of gene: ASPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASL Rebecca Foulger edited their review of gene: ASL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ASL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ARX Rebecca Foulger edited their review of gene: ARX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARSE Rebecca Foulger edited their review of gene: ARSE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARSB Rebecca Foulger edited their review of gene: ARSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes multiple features that would present pre-natally.; Changed rating: GREEN
Fetal anomalies v0.134 ARMC9 Rebecca Foulger edited their review of gene: ARMC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARMC4 Rebecca Foulger edited their review of gene: ARMC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes Situs inversus.; Changed rating: GREEN
Fetal anomalies v0.134 ARL6 Rebecca Foulger edited their review of gene: ARL6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARID1B Rebecca Foulger edited their review of gene: ARID1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARID1A Rebecca Foulger edited their review of gene: ARID1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ARG1 Rebecca Foulger edited their review of gene: ARG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ARG1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 APTX Rebecca Foulger edited their review of gene: APTX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted APTX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 APOPT1 Rebecca Foulger edited their review of gene: APOPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted APOPT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AP4E1 Rebecca Foulger edited their review of gene: AP4E1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AP1S2 Rebecca Foulger edited their review of gene: AP1S2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ANTXR1 Rebecca Foulger edited their review of gene: ANTXR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ANKRD11 Rebecca Foulger edited their review of gene: ANKRD11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ANKH Rebecca Foulger edited their review of gene: ANKH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AMT Rebecca Foulger edited their review of gene: AMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AMPD2 Rebecca Foulger edited their review of gene: AMPD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALX4 Rebecca Foulger edited their review of gene: ALX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALX3 Rebecca Foulger edited their review of gene: ALX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALX1 Rebecca Foulger edited their review of gene: ALX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALS2 Rebecca Foulger edited their review of gene: ALS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The age of onset is 3-20 years. Action taken: Demoted ALS2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ALMS1 Rebecca Foulger edited their review of gene: ALMS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases (>3) in OMIM to support gene:disease association.; Changed rating: GREEN
Fetal anomalies v0.134 ALG8 Rebecca Foulger edited their review of gene: ALG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG6 Rebecca Foulger edited their review of gene: ALG6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG3 Rebecca Foulger edited their review of gene: ALG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG1 Rebecca Foulger edited their review of gene: ALG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALDOA Rebecca Foulger edited their review of gene: ALDOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH7A1 Rebecca Foulger edited their review of gene: ALDH7A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype has prenatal or neonatal onset and includes in utero convulsions. Treatable.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH5A1 Rebecca Foulger edited their review of gene: ALDH5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ALDH5A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ALDH4A1 Rebecca Foulger edited their review of gene: ALDH4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ALDH4A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ALDH3A2 Rebecca Foulger edited their review of gene: ALDH3A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could present with brain abnormalities.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH1A3 Rebecca Foulger edited their review of gene: ALDH1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALDH18A1 Rebecca Foulger edited their review of gene: ALDH18A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with both monoallelic and biallelic mode of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 AKT1 Rebecca Foulger edited their review of gene: AKT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AKR1D1 Rebecca Foulger edited their review of gene: AKR1D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AKR1D1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AK2 Rebecca Foulger edited their review of gene: AK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AK2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AIPL1 Rebecca Foulger edited their review of gene: AIPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AIPL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AHI1 Rebecca Foulger edited their review of gene: AHI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AHDC1 Rebecca Foulger edited their review of gene: AHDC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AGPS Rebecca Foulger edited their review of gene: AGPS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AGL Rebecca Foulger edited their review of gene: AGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AGK Rebecca Foulger edited their review of gene: AGK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Bilateral cataracts in first week of life which can be picked up prenatally. 3/12 died in neonatal period.; Changed rating: GREEN
Fetal anomalies v0.134 AGA Rebecca Foulger edited their review of gene: AGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AGA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AFF4 Rebecca Foulger edited their review of gene: AFF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AFF2 Rebecca Foulger edited their review of gene: AFF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AFF2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ADSL Rebecca Foulger edited their review of gene: ADSL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May present with cerebellar atrophy.; Changed rating: GREEN
Fetal anomalies v0.134 ADGRG6 Rebecca Foulger edited their review of gene: ADGRG6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADGRG1 Rebecca Foulger edited their review of gene: ADGRG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADAR Rebecca Foulger edited their review of gene: ADAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADA Rebecca Foulger edited their review of gene: ADA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ADA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ACY1 Rebecca Foulger edited their review of gene: ACY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because the phenotype is severe, and Cerebellar atrophy was reported in 1 patient (OMIM Clinical Synopsis).; Changed rating: GREEN
Fetal anomalies v0.134 ACTG1 Rebecca Foulger edited their review of gene: ACTG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACP5 Rebecca Foulger edited their review of gene: ACP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACOX1 Rebecca Foulger edited their review of gene: ACOX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Brain malformations may be picked up in a late MRI scan.; Changed rating: GREEN; Changed phenotypes: ADRENOLEUKODYSTROPHY PSEUDONEONATAL, Peroxisomal acyl-CoA oxidase deficiency, 264470
Fetal anomalies v0.134 ACAT1 Rebecca Foulger edited their review of gene: ACAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ACAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ACAN Rebecca Foulger edited their review of gene: ACAN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACADVL Rebecca Foulger edited their review of gene: ACADVL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Infantile myopathy presents in the first week of life, and therefore could present in late pregnancy.; Changed rating: GREEN
Fetal anomalies v0.134 ACADM Rebecca Foulger edited their review of gene: ACADM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: This phenotype is screened for neonatally, and would not see pre-natally. Action taken: Demoted ACADM gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ACAD9 Rebecca Foulger edited their review of gene: ACAD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:26475292 includes one pre-natal case.; Changed rating: GREEN; Changed publications: 26475292
Fetal anomalies v0.134 ABHD5 Rebecca Foulger edited their review of gene: ABHD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because Collodion baby is one of the phenotypes of Chanarin-Dorfman syndrome.; Changed rating: GREEN
Fetal anomalies v0.134 ABCC9 Rebecca Foulger edited their review of gene: ABCC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ABCC6 Rebecca Foulger edited their review of gene: ABCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ABCB7 Rebecca Foulger edited their review of gene: ABCB7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ABCB7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ABCB11 Rebecca Foulger edited their review of gene: ABCB11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ABCB11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AAAS Rebecca Foulger edited their review of gene: AAAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 UBA1 Rebecca Foulger edited their review of gene: UBA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TTC21B Rebecca Foulger edited their review of gene: TTC21B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TPM3 Rebecca Foulger edited their review of gene: TPM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TNXB Rebecca Foulger edited their review of gene: TNXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TNXB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 TNNT1 Rebecca Foulger edited their review of gene: TNNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TNNI2 Rebecca Foulger edited their review of gene: TNNI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TMEM231 Rebecca Foulger edited their review of gene: TMEM231: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TMEM138 Rebecca Foulger edited their review of gene: TMEM138: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TGM1 Rebecca Foulger edited their review of gene: TGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TGIF1 Rebecca Foulger edited their review of gene: TGIF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TCIRG1 Rebecca Foulger edited their review of gene: TCIRG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TBX6 Rebecca Foulger edited their review of gene: TBX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SRD5A2 Rebecca Foulger edited their review of gene: SRD5A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SP110 Rebecca Foulger edited their review of gene: SP110: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SP110 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 SOST Rebecca Foulger edited their review of gene: SOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Change mode of inheritance to 'both monoallelic and biallelic' to include AD Craniodiaphyseal dysplasia. Action taken: Changed Mode of inheritance from 'biallelic' to 'both monoallelic and biallelic'.; Changed rating: GREEN; Changed phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, 122860, Sclerosteosis 1, 269500; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 SLC26A3 Rebecca Foulger edited their review of gene: SLC26A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SLC12A1 Rebecca Foulger edited their review of gene: SLC12A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SGCA Rebecca Foulger edited their review of gene: SGCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SGCA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 SELENON Rebecca Foulger edited their review of gene: SELENON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SELENON gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 RPS26 Rebecca Foulger edited their review of gene: RPS26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPS17 Rebecca Foulger edited their review of gene: RPS17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPS10 Rebecca Foulger edited their review of gene: RPS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPL5 Rebecca Foulger edited their review of gene: RPL5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RPL11 Rebecca Foulger edited their review of gene: RPL11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 REN Rebecca Foulger edited their review of gene: REN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 PRG4 Rebecca Foulger edited their review of gene: PRG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.134 POR Rebecca Foulger edited their review of gene: POR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PKLR Rebecca Foulger edited their review of gene: PKLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PKD2 Rebecca Foulger edited their review of gene: PKD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PKD1 Rebecca Foulger edited their review of gene: PKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 OSTM1 Rebecca Foulger edited their review of gene: OSTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 OCLN Rebecca Foulger edited their review of gene: OCLN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR0B1 Rebecca Foulger edited their review of gene: NR0B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NHEJ1 Rebecca Foulger edited their review of gene: NHEJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYBPC1 Rebecca Foulger edited their review of gene: MYBPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSH6 Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but these rare tumours could potentially present neonatally. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 MSH2 Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but these rare tumours could potentially present neonatally. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 MLH1 Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but very rarely there is a chance of tumours presenting very early as fetal adrenal/renal masses. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 MBTPS2 Rebecca Foulger edited their review of gene: MBTPS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LZTFL1 Rebecca Foulger edited their review of gene: LZTFL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LTBP4 Rebecca Foulger edited their review of gene: LTBP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient (>3) cases in OMIM to support gene:disease association.; Changed rating: GREEN
Fetal anomalies v0.134 LMOD3 Rebecca Foulger edited their review of gene: LMOD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LMBR1 Rebecca Foulger edited their review of gene: LMBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 LIFR Rebecca Foulger edited their review of gene: LIFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KLHL41 Rebecca Foulger edited their review of gene: KLHL41: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Biallelic inheritance. Sufficient (>3) unrelated cases in OMIM to support gene:disease association.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 KCNJ2 Rebecca Foulger edited their review of gene: KCNJ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases in OMIM to support gene:disease association, and phenotype would include some structural features.; Changed rating: GREEN
Fetal anomalies v0.134 KCNJ1 Rebecca Foulger edited their review of gene: KCNJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases (3) in OMIM to support gene:disease association.; Changed rating: GREEN
Fetal anomalies v0.134 ITGB4 Rebecca Foulger edited their review of gene: ITGB4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. ITGB4 is rated Green on the V1.6 'Epidermolysis bullosa' panel.; Changed rating: GREEN
Fetal anomalies v0.134 ITGA6 Rebecca Foulger edited their review of gene: ITGA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. Although there is only one reported case in OMIM, ITGA6 is rated Green on the V1.6 'Epidermolysis bullosa' panel due to expert review and recent additional publications.; Changed rating: GREEN
Fetal anomalies v0.134 IQCB1 Rebecca Foulger edited their review of gene: IQCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INVS Rebecca Foulger edited their review of gene: INVS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 INSR Rebecca Foulger edited their review of gene: INSR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 IER3IP1 Rebecca Foulger edited their review of gene: IER3IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HSD17B3 Rebecca Foulger edited their review of gene: HSD17B3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could present with ambiguous genitalia.; Changed rating: GREEN
Fetal anomalies v0.134 HES7 Rebecca Foulger edited their review of gene: HES7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GRIP1 Rebecca Foulger edited their review of gene: GRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include. 3 unrelated cases reported in PMID:22510445.; Changed rating: GREEN; Changed publications: 22510445
Fetal anomalies v0.134 GPI Rebecca Foulger edited their review of gene: GPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include GPI gene because could hydrops is a feature.; Changed rating: GREEN
Fetal anomalies v0.134 FGF8 Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include- the pituitary would present as structurally abnormal.; Changed rating: GREEN
Fetal anomalies v0.134 FBLN5 Rebecca Foulger edited their review of gene: FBLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- Macular degeneration presents with AD inheritance so don't want to include this.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 DNAI1 Rebecca Foulger edited their review of gene: DNAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DNAH11 Rebecca Foulger edited their review of gene: DNAH11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DNAAF1 Rebecca Foulger edited their review of gene: DNAAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP21A2 Rebecca Foulger edited their review of gene: CYP21A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP17A1 Rebecca Foulger edited their review of gene: CYP17A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP11B1 Rebecca Foulger edited their review of gene: CYP11B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRTAP Rebecca Foulger edited their review of gene: CRTAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CRLF1 Rebecca Foulger edited their review of gene: CRLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CPT2 Rebecca Foulger edited their review of gene: CPT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 COL5A2 Rebecca Foulger edited their review of gene: COL5A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: pre-natal diagnosis will not explain phenotype in the fetus. Action taken: Demoted COL5A2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 COL5A1 Rebecca Foulger edited their review of gene: COL5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: pre-natal diagnosis will not explain phenotype in the fetus. Action taken: Demoted COL5A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 CHRND Rebecca Foulger edited their review of gene: CHRND: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CHKB Rebecca Foulger edited their review of gene: CHKB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: unclear whether it would present pre-natally but would want to know this result due to severe phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 CHAT Rebecca Foulger edited their review of gene: CHAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CFTR Rebecca Foulger edited their review of gene: CFTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.134 CEP164 Rebecca Foulger edited their review of gene: CEP164: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CDAN1 Rebecca Foulger edited their review of gene: CDAN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Additional unpublished case with hydrops.; Changed rating: GREEN
Fetal anomalies v0.134 CAVIN1 Rebecca Foulger edited their review of gene: CAVIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CAVIN1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 B3GLCT Rebecca Foulger edited their review of gene: B3GLCT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Peters-plus syndrome itself would not be picked up, but other common features can be detected pre-natally (e.g. clefting).; Changed rating: GREEN
Fetal anomalies v0.134 B3GAT3 Rebecca Foulger edited their review of gene: B3GAT3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ATP6V0A2 Rebecca Foulger edited their review of gene: ATP6V0A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ASNS Rebecca Foulger edited their review of gene: ASNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 AP3B1 Rebecca Foulger edited their review of gene: AP3B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AP3B1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 AGRN Rebecca Foulger edited their review of gene: AGRN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Unlikely to detect congenital myasthenia prenatally. Action taken: Demoted AGRN gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ADAMTSL2 Rebecca Foulger edited their review of gene: ADAMTSL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ADAMTS10 Rebecca Foulger edited their review of gene: ADAMTS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACTG2 Rebecca Foulger edited their review of gene: ACTG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACE Rebecca Foulger edited their review of gene: ACE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ABCA12 Rebecca Foulger edited their review of gene: ABCA12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 WDR19 Rebecca Foulger edited their review of gene: WDR19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 TMEM67 Rebecca Foulger edited their review of gene: TMEM67: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 SOX9 Rebecca Foulger edited their review of gene: SOX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RTTN Rebecca Foulger edited their review of gene: RTTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PEX12 Rebecca Foulger edited their review of gene: PEX12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 PEX1 Rebecca Foulger edited their review of gene: PEX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 OFD1 Rebecca Foulger edited their review of gene: OFD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NIPBL Rebecca Foulger edited their review of gene: NIPBL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEB Rebecca Foulger edited their review of gene: NEB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYH3 Rebecca Foulger edited their review of gene: MYH3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MUSK Rebecca Foulger edited their review of gene: MUSK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 KCTD1 Rebecca Foulger edited their review of gene: KCTD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 HRAS Rebecca Foulger edited their review of gene: HRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 GBE1 Rebecca Foulger edited their review of gene: GBE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLT4 Rebecca Foulger edited their review of gene: FLT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 FANCB Rebecca Foulger edited their review of gene: FANCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 EVC2 Rebecca Foulger edited their review of gene: EVC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 DYNC2H1 Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable.; Changed rating: GREEN
Fetal anomalies v0.134 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL1A2 Rebecca Foulger edited their review of gene: COL1A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Need caution when reviewing variants in COL1A1, because different variants are associated with different phenotypes. Gain of function variants cause a more severe phenotype than LOF variants, which cause a mild phenotype.; Changed rating: GREEN
Fetal anomalies v0.134 BBS4 Rebecca Foulger edited their review of gene: BBS4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALPL Rebecca Foulger edited their review of gene: ALPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ALG12 Rebecca Foulger edited their review of gene: ALG12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 STAT1 Rebecca Foulger edited their review of gene: STAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 EIF2B3 Rebecca Foulger edited their review of gene: EIF2B3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 BMP1 Rebecca Foulger edited their review of gene: BMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 ACTC1 Rebecca Foulger edited their review of gene: ACTC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.133 C4orf26 Rebecca Foulger Phenotypes for gene: C4orf26 were changed from Amelogenesis imperfecta, type IIA4; 614832 to Amelogenesis imperfecta, type IIA4, 614832
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Classified gene: PLN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.31 PLN Ellen McDonagh Gene: pln has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Classified gene: VCL as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.30 VCL Ellen McDonagh Gene: vcl has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Classified gene: TTN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.29 TTN Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.28 TPM1 Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Classified gene: TPM1 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.27 TPM1 Ellen McDonagh Gene: tpm1 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Classified gene: TNNT2 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.26 TNNT2 Ellen McDonagh Gene: tnnt2 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Classified gene: TNNI3 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.25 TNNI3 Ellen McDonagh Gene: tnni3 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Classified gene: SCN5A as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.24 SCN5A Ellen McDonagh Gene: scn5a has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Classified gene: RBM20 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.23 RBM20 Ellen McDonagh Gene: rbm20 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Classified gene: TNNC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.22 TNNC1 Ellen McDonagh Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Classified gene: TCAP as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.21 TCAP Ellen McDonagh Gene: tcap has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Classified gene: SGCD as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has Red/Amber reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.20 SGCD Ellen McDonagh Gene: sgcd has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.19 NEXN Ellen McDonagh Classified gene: NEXN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.19 NEXN Ellen McDonagh Gene: nexn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Classified gene: NEXN as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.18 NEXN Ellen McDonagh Gene: nexn has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.17 MYH7 Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.16 MYH6 Ellen McDonagh Classified gene: MYH6 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.16 MYH6 Ellen McDonagh Gene: myh6 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Classified gene: MYH6 as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.15 MYH6 Ellen McDonagh Gene: myh6 has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Classified gene: MYBPC3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.14 MYBPC3 Ellen McDonagh Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Classified gene: LMNA as Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Dilated and arrhythmogenic cardiomyopathy v0.13 LMNA Ellen McDonagh Gene: lmna has been classified as Green List (High Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Classified gene: FKTN as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.12 FKTN Ellen McDonagh Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Classified gene: EYA4 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.11 EYA4 Ellen McDonagh Gene: eya4 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Classified gene: DES as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.10 DES Ellen McDonagh Gene: des has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Classified gene: CSRP3 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.9 CSRP3 Ellen McDonagh Gene: csrp3 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Classified gene: ACTN2 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.8 ACTN2 Ellen McDonagh Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Classified gene: ACTC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Gene: actc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Classified gene: ABCC9 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 4/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.6 ABCC9 Ellen McDonagh Gene: abcc9 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.52 Ellen McDonagh List of related panels changed from Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult to Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult
Dilated and arrhythmogenic cardiomyopathy v0.4 Ellen McDonagh Panel status changed from internal to public
Dilated Cardiomyopathy and conduction defects v1.50 Ellen McDonagh Panel name changed from Dilated cardiomyopathy - teen and adult to Dilated Cardiomyopathy and conduction defects
List of related panels changed from Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM) to Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM); Dilated cardiomyopathy - teen and adult
Panel types changed to Rare Disease 100K
Hypogonadotropic hypogonadism (GMS) v0.27 SOX2 Ivone Leong Classified gene: SOX2 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.27 SOX2 Ivone Leong Gene: sox2 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.26 SLC29A3 Ivone Leong Classified gene: SLC29A3 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.26 SLC29A3 Ivone Leong Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.25 NSMF Ivone Leong Classified gene: NSMF as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.25 NSMF Ivone Leong Gene: nsmf has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.24 GNRH1 Ivone Leong Classified gene: GNRH1 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.24 GNRH1 Ivone Leong Gene: gnrh1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.23 FEZF1 Ivone Leong Classified gene: FEZF1 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.23 FEZF1 Ivone Leong Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.22 DCAF17 Ivone Leong Classified gene: DCAF17 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v0.22 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v0.21 WDR11 Ivone Leong Classified gene: WDR11 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.21 WDR11 Ivone Leong Gene: wdr11 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.20 TACR3 Ivone Leong Classified gene: TACR3 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.20 TACR3 Ivone Leong Gene: tacr3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.19 TAC3 Ivone Leong Classified gene: TAC3 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.19 TAC3 Ivone Leong Gene: tac3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.18 PROKR2 Ivone Leong Classified gene: PROKR2 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.18 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.17 PROK2 Ivone Leong Classified gene: PROK2 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.17 PROK2 Ivone Leong Gene: prok2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.16 LHB Ivone Leong Classified gene: LHB as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.16 LHB Ivone Leong Gene: lhb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.15 KISS1R Ivone Leong Classified gene: KISS1R as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.15 KISS1R Ivone Leong Gene: kiss1r has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.14 IL17RD Ivone Leong Classified gene: IL17RD as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.14 IL17RD Ivone Leong Gene: il17rd has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.13 GNRHR Ivone Leong Classified gene: GNRHR as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.13 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.12 FSHB Ivone Leong Classified gene: FSHB as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.12 FSHB Ivone Leong Gene: fshb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.11 FGFR1 Ivone Leong Classified gene: FGFR1 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.11 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.10 FGF8 Ivone Leong Classified gene: FGF8 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.10 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.9 CHD7 Ivone Leong Classified gene: CHD7 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.9 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.8 ANOS1 Ivone Leong Classified gene: ANOS1 as Green List (high evidence)
Hypogonadotropic hypogonadism (GMS) v0.8 ANOS1 Ivone Leong Gene: anos1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism (GMS) v0.7 KLB Simon Thomas reviewed gene: KLB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SOX3 Simon Thomas reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 WDR11 Simon Thomas reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 TFR2 Simon Thomas reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 TACR3 Simon Thomas reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 TAC3 Simon Thomas reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SOX2 Simon Thomas reviewed gene: SOX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SOX10 Simon Thomas reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SLC40A1 Simon Thomas reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 SLC29A3 Simon Thomas reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 PROP1 Simon Thomas reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 PROKR2 Simon Thomas reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 PROK2 Simon Thomas reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 NSMF Simon Thomas reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 NR0B1 Simon Thomas reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 LHX4 Simon Thomas reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 LHB Simon Thomas reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 KISS1R Simon Thomas reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 IL17RD Simon Thomas reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 HFE Simon Thomas reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 HAMP Simon Thomas reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 GNRHR Simon Thomas reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 GNRH1 Simon Thomas reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 GLI2 Simon Thomas reviewed gene: GLI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FSHB Simon Thomas reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FGFR1 Simon Thomas reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FGF8 Simon Thomas reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 FEZF1 Simon Thomas reviewed gene: FEZF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 DCAF17 Simon Thomas reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 CUL4B Simon Thomas reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 CHD7 Simon Thomas reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.7 ANOS1 Simon Thomas reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism (GMS) v0.6 KLB Ivone Leong gene: KLB was added
gene: KLB was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KLB were set to Congenital hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism (GMS) v0.6 SOX3 Ivone Leong gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked
Hypogonadotropic hypogonadism (GMS) v0.6 WDR11 Ivone Leong Source Wessex and West Midlands GLH was added to WDR11.
Hypogonadotropic hypogonadism (GMS) v0.6 TFR2 Ivone Leong Source Wessex and West Midlands GLH was added to TFR2.
Hypogonadotropic hypogonadism (GMS) v0.6 TACR3 Ivone Leong Source Wessex and West Midlands GLH was added to TACR3.
Hypogonadotropic hypogonadism (GMS) v0.6 TAC3 Ivone Leong Source Wessex and West Midlands GLH was added to TAC3.
Hypogonadotropic hypogonadism (GMS) v0.6 SOX2 Ivone Leong Source Wessex and West Midlands GLH was added to SOX2.
Hypogonadotropic hypogonadism (GMS) v0.6 SOX10 Ivone Leong Source Wessex and West Midlands GLH was added to SOX10.
Hypogonadotropic hypogonadism (GMS) v0.6 SLC40A1 Ivone Leong Source Wessex and West Midlands GLH was added to SLC40A1.
Hypogonadotropic hypogonadism (GMS) v0.6 SLC29A3 Ivone Leong Source Wessex and West Midlands GLH was added to SLC29A3.
Hypogonadotropic hypogonadism (GMS) v0.6 PROP1 Ivone Leong Source Wessex and West Midlands GLH was added to PROP1.
Hypogonadotropic hypogonadism (GMS) v0.6 PROKR2 Ivone Leong Source Wessex and West Midlands GLH was added to PROKR2.
Hypogonadotropic hypogonadism (GMS) v0.6 PROK2 Ivone Leong Source Wessex and West Midlands GLH was added to PROK2.
Hypogonadotropic hypogonadism (GMS) v0.6 NSMF Ivone Leong Source Wessex and West Midlands GLH was added to NSMF.
Hypogonadotropic hypogonadism (GMS) v0.6 NR0B1 Ivone Leong Source Wessex and West Midlands GLH was added to NR0B1.
Hypogonadotropic hypogonadism (GMS) v0.6 LHX4 Ivone Leong Source Wessex and West Midlands GLH was added to LHX4.
Hypogonadotropic hypogonadism (GMS) v0.6 LHB Ivone Leong Source Wessex and West Midlands GLH was added to LHB.
Hypogonadotropic hypogonadism (GMS) v0.6 KISS1R Ivone Leong Source Wessex and West Midlands GLH was added to KISS1R.
Hypogonadotropic hypogonadism (GMS) v0.6 IL17RD Ivone Leong Source Wessex and West Midlands GLH was added to IL17RD.
Hypogonadotropic hypogonadism (GMS) v0.6 HFE Ivone Leong Source Wessex and West Midlands GLH was added to HFE.
Hypogonadotropic hypogonadism (GMS) v0.6 HAMP Ivone Leong Source Wessex and West Midlands GLH was added to HAMP.
Hypogonadotropic hypogonadism (GMS) v0.6 GNRHR Ivone Leong Source Wessex and West Midlands GLH was added to GNRHR.
Hypogonadotropic hypogonadism (GMS) v0.6 GNRH1 Ivone Leong Source Wessex and West Midlands GLH was added to GNRH1.
Hypogonadotropic hypogonadism (GMS) v0.6 GLI2 Ivone Leong Source Wessex and West Midlands GLH was added to GLI2.
Hypogonadotropic hypogonadism (GMS) v0.6 FSHB Ivone Leong Source Wessex and West Midlands GLH was added to FSHB.
Hypogonadotropic hypogonadism (GMS) v0.6 FGFR1 Ivone Leong Source Wessex and West Midlands GLH was added to FGFR1.
Hypogonadotropic hypogonadism (GMS) v0.6 FGF8 Ivone Leong Source Wessex and West Midlands GLH was added to FGF8.
Hypogonadotropic hypogonadism (GMS) v0.6 FEZF1 Ivone Leong Source Wessex and West Midlands GLH was added to FEZF1.
Hypogonadotropic hypogonadism (GMS) v0.6 DCAF17 Ivone Leong Source Wessex and West Midlands GLH was added to DCAF17.
Hypogonadotropic hypogonadism (GMS) v0.6 CUL4B Ivone Leong Source Wessex and West Midlands GLH was added to CUL4B.
Hypogonadotropic hypogonadism (GMS) v0.6 CHD7 Ivone Leong Source Wessex and West Midlands GLH was added to CHD7.
Hypogonadotropic hypogonadism (GMS) v0.6 ANOS1 Ivone Leong Source Wessex and West Midlands GLH was added to ANOS1.
Optic neuropathy v1.109 TIMM8A Ivone Leong Publications for gene: TIMM8A were set to 20301395
Optic neuropathy v1.108 SPG7 Ivone Leong Classified gene: SPG7 as Green List (high evidence)
Optic neuropathy v1.108 SPG7 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are >3 unrelated cases with different variants reported. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.
Optic neuropathy v1.108 SPG7 Ivone Leong Gene: spg7 has been classified as Green List (High Evidence).
Optic neuropathy v1.107 SPG7 Ivone Leong Publications for gene: SPG7 were set to
Sporadic aniridia v1.7 PAX6 Jonathan Callaway reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Sporadic aniridia v1.7 PAX6 Jonathan Callaway Deleted their review
Sporadic aniridia v1.7 PAX6 Jonathan Callaway reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: aniridia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss v1.103 CLIC5 Alistair Pagnamenta reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24781754, 17021174; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.106 TMEM126A Ivone Leong Tag founder-effect tag was added to gene: TMEM126A.
Proteinuric renal disease v1.16 ARHGDIA Eleanor Williams edited their review of gene: ARHGDIA: Added comment: PMID: 23434736 - Gupta et al 2013 - 2 sisters with congenital nephrotic syndrome who were born to consanguineous parents of Pakistani origin. Using whole exome sequencing, they found both girls have a homozygous in-frame deletion in ARHGDIA, c.553_555del(p.Asp185del). The healthy mother was found to be a heterozygous carrier for this deletion. The father's DNA was unavailable for analysis. Functional studies showed that RhoGDIα protein was strongly expressed in the glomerulus of the adult mouse kidney and that normal binding of mutant protein was impaired.

PMID: 23867502 - Gee et al 2013 - performed homozygosity mapping and then whole exome resequencing in a family of Ashkenazi Jewish origin in whom 2 siblings had early-onset SRNS with renal histology of diffuse mesangial sclerosis. They found in both siblings a homozygous missense mutation (c.518G>T;p.G173V) of ARHGDIA. They then examined 65 additional individuals with DMS and 350 individuals with SRNS, we detected a homozygous mutation (c.358C>T;p.R120X) in an infant (Moroccan) with congenital NS. Functional studies showed both mutant protein had abrogated interaction with RHO GTPases and the nephrotic phenotype was recapitulated in arhgdia-deficient zebrafish.

PMID: 30295827 - Schapiro et al 2019 - screen for 11 AS, aHUS and thrombotic thrombocytopenic purpura-causing genes by exon sequencing and 23 SRNS-causing genes by WES or high-throughput exon sequencing in an international cohort of 371 patients from 362 families presenting with both proteinuria and hematuria before age 25 years. This screen included ARHGDIA. 1 consangineious Jewish family with 2 individuals are homozgous for c.518G>T, p.Gly173Val.

Summary - 4 families with 3 different variants reported. The two Jewish families have the same variant. Functional evidence that the protein is expressed in the kidney and that the function of mutant protein is impared.; Changed publications: 23434736, 23867502, 30295827
Optic neuropathy v1.106 TMEM126A Ivone Leong Phenotypes for gene: TMEM126A were changed from Optic Atrophy, Recessive to Optic Atrophy, Recessive; Optic atrophy 7, 612989
Fetal anomalies v0.132 ASCC1 Julia Baptista gene: ASCC1 was added
gene: ASCC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Review for gene: ASCC1 was set to GREEN
gene: ASCC1 was marked as current diagnostic
Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: Literature
Arthrogryposis v2.37 ASCC1 Julia Baptista gene: ASCC1 was added
gene: ASCC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Review for gene: ASCC1 was set to GREEN
gene: ASCC1 was marked as current diagnostic
Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: Literature
DDG2P v1.8 ASCC1 Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.105 MFF Ivone Leong Classified gene: MFF as Green List (high evidence)
Optic neuropathy v1.105 MFF Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. The gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases with different variants in this gene associated with optic atrophy and also based on the expert review, it was decided that there is enough evidence to promote this gene to a green rating.
Optic neuropathy v1.105 MFF Ivone Leong Gene: mff has been classified as Green List (High Evidence).
Optic neuropathy v1.104 MFF Ivone Leong Publications for gene: MFF were set to 30581454; 26783368
Optic neuropathy v1.103 DNM1L Ivone Leong Classified gene: DNM1L as Green List (high evidence)
Optic neuropathy v1.103 DNM1L Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are 3 unrelated cases with different variants in OMIM. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.
Optic neuropathy v1.103 DNM1L Ivone Leong Gene: dnm1l has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.9 RELT Eleanor Williams Publications for gene: RELT were set to PMID: 30506946
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Classified gene: RELT as Green List (high evidence)
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Added comment: Comment on list classification: 3 cases with 3 different variants. Segregation of the variant with the disease. Mouse knockout shows a related phenotype.
Amelogenesis imperfecta v1.8 RELT Eleanor Williams Gene: relt has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.7 RELT Eleanor Williams commented on gene: RELT
Congenital fibrosis of the extraocular muscles v0.8 GRHL2 Morag Shanks reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: ; Publications: 29110737; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: Unknown
Congenital fibrosis of the extraocular muscles v0.8 COL25A1 Morag Shanks reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: Fibrosis of extraocular muscles, congenital, 5 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital fibrosis of the extraocular muscles v0.8 TUBB2B Morag Shanks reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: ; Publications: 23001566; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.8 TUBB3 Morag Shanks reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20074521, 27428177; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.8 PHOX2A Morag Shanks reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11600883, 22311481, 14597037; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital fibrosis of the extraocular muscles v0.8 KIF21A Morag Shanks reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15223798, 15621876, 15621877, 18332320; Phenotypes: Fibrosis of extraocular muscles, congenital, 1 135700, Fibrosis of extraocular muscles, congenital, 3B 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital fibrosis of the extraocular muscles v0.7 GRHL2 Ivone Leong gene: GRHL2 was added
gene: GRHL2 was added to Congenital fibrosis of the extraocular muscles. Sources: Wessex and West Midlands GLH,Expert Review Red
Mode of inheritance for gene: GRHL2 was set to Unknown
Publications for gene: GRHL2 were set to 29110737
Phenotypes for gene: GRHL2 were set to Fibrosis of extraocular muscles, congenital
Congenital fibrosis of the extraocular muscles v0.7 COL25A1 Ivone Leong Source Wessex and West Midlands GLH was added to COL25A1.
Source Expert Review Amber was added to COL25A1.
Added phenotypes Fibrosis of extraocular muscles, congenital, 5 616219 for gene: COL25A1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Congenital fibrosis of the extraocular muscles v0.7 TUBB2B Ivone Leong Source Wessex and West Midlands GLH was added to TUBB2B.
Source Expert Review Red was added to TUBB2B.
Added phenotypes Fibrosis of extraocular muscles, congenital for gene: TUBB2B
Publications for gene TUBB2B were changed from 11425694; 23001566 to 23001566
Congenital fibrosis of the extraocular muscles v0.7 TUBB3 Ivone Leong Source Wessex and West Midlands GLH was added to TUBB3.
Source Expert Review Green was added to TUBB3.
Added phenotypes Fibrosis of extraocular muscles, congenital, 3A 600638 for gene: TUBB3
Publications for gene TUBB3 were changed from to 20074521; 27428177
Rating Changed from Red List (low evidence) to Green List (high evidence)
Congenital fibrosis of the extraocular muscles v0.7 PHOX2A Ivone Leong Source Wessex and West Midlands GLH was added to PHOX2A.
Source Expert Review Green was added to PHOX2A.
Mode of inheritance for gene PHOX2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 for gene: PHOX2A
Publications for gene PHOX2A were changed from 11600883 to 11600883; 14597037; 22311481
Rating Changed from Red List (low evidence) to Green List (high evidence)
Congenital fibrosis of the extraocular muscles v0.7 KIF21A Ivone Leong Source Wessex and West Midlands GLH was added to KIF21A.
Source Expert Review Green was added to KIF21A.
Added phenotypes Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 for gene: KIF21A
Publications for gene KIF21A were changed from 15621876 to 15621876; 15621877; 15223798; 18332320
Rating Changed from Red List (low evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v0.10 MT-TF Eleanor Williams Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Classified gene: MT-TF as Green List (high evidence)
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Added comment: Comment on list classification: Rating this gene as green due to expert review and because there are more than 3 cases of individuals with variants in this gene and tubulointerstitial kidney disease.
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Gene: mt-tf has been classified as Green List (High Evidence).
Sporadic aniridia v1.7 PITX2 Ivone Leong Publications for gene: PITX2 were set to
Sporadic aniridia v1.6 ITPR1 Ivone Leong Publications for gene: ITPR1 were set to
Sporadic aniridia v1.5 FOXC1 Ivone Leong Publications for gene: FOXC1 were set to
Sporadic aniridia v1.4 ITPR1 Morag Shanks reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27108797, 27108798; Phenotypes: Gillespie syndrome 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sporadic aniridia v1.4 PITX2 Morag Shanks reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21423868, 27124303; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.4 FOXC1 Morag Shanks reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19279310, 25691405, 27124303; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.4 TRIM44 Morag Shanks reviewed gene: TRIM44: Rating: RED; Mode of pathogenicity: ; Publications: 26394807; Phenotypes: ?Aniridia 3 617142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.4 ELP4 Morag Shanks reviewed gene: ELP4: Rating: RED; Mode of pathogenicity: ; Publications: 24290376; Phenotypes: ?Aniridia 2 617141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sporadic aniridia v1.4 PAX6 Morag Shanks reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 1302030, 8111379, 7951315, 7666404, 7550230, 19876904, 9931324, 12552561, 11826019?, 11553050, 17148041, 17595013, 17406642; Phenotypes: Aniridia 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Sporadic aniridia v1.3 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142; ?Aniridia 3 617142 to ?Aniridia 3, 617142
Sporadic aniridia v1.2 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141; ?Aniridia 2 617141 to ?Aniridia 2, 617141
Sporadic aniridia v1.1 ITPR1 Ivone Leong gene: ITPR1 was added
gene: ITPR1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700
Sporadic aniridia v1.1 PITX2 Ivone Leong gene: PITX2 was added
gene: PITX2 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Amber
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.1 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sporadic aniridia v1.1 TRIM44 Ivone Leong Source Wessex and West Midlands GLH was added to TRIM44.
Added phenotypes ?Aniridia 3 617142 for gene: TRIM44
Sporadic aniridia v1.1 ELP4 Ivone Leong Source Wessex and West Midlands GLH was added to ELP4.
Mode of inheritance for gene ELP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Aniridia 2 617141 for gene: ELP4
Sporadic aniridia v1.1 PAX6 Ivone Leong Source Wessex and West Midlands GLH was added to PAX6.
Added phenotypes Aniridia 106210 for gene: PAX6
Tubulointerstitial kidney disease v0.8 MT-TF Eleanor Williams commented on gene: MT-TF
Albinism or congenital nystagmus v0.17 TULP1 Jonathan Callaway reviewed gene: TULP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15 613843 AR, Retinitis pigmentosa 14 600132 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MYO5A Jonathan Callaway reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 1 214450 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MLPH Jonathan Callaway reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3 609227 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 MANBA Jonathan Callaway reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 DTNBP1 Jonathan Callaway reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 7 614076 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 BLOC1S6 Jonathan Callaway reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-pudlak syndrome 9 614171 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 BLOC1S3 Jonathan Callaway reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 8 614077 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 AP3D1 Jonathan Callaway reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hermansky-Pudlak syndrome 10 617050 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.17 SLC38A8 Jonathan Callaway reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: Poulter el al. 2013 (PMID 24290379), Perez et al. 2014 (PMID 24045842) and Lasseaux et al. 2018 (PMID 29345414).; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.16 TULP1 Ivone Leong Source Expert Review Amber was added to TULP1.
Added phenotypes Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR for gene: TULP1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MYO5A Ivone Leong Source Expert Review Amber was added to MYO5A.
Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MLPH Ivone Leong Source Expert Review Amber was added to MLPH.
Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 MANBA Ivone Leong Source Expert Review Amber was added to MANBA.
Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 DTNBP1 Ivone Leong Source Expert Review Amber was added to DTNBP1.
Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 BLOC1S6 Ivone Leong Source Expert Review Amber was added to BLOC1S6.
Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 BLOC1S3 Ivone Leong Source Expert Review Amber was added to BLOC1S3.
Added phenotypes Hermansky-Pudlak syndrome 8 614077 AR for gene: BLOC1S3
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 AP3D1 Ivone Leong Source Expert Review Amber was added to AP3D1.
Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Albinism or congenital nystagmus v0.16 SLC38A8 Ivone Leong Source Expert Review Green was added to SLC38A8.
Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR for gene: SLC38A8
Rating Changed from Red List (low evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.15 TULP1 Ivone Leong gene: TULP1 was added
gene: TULP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15 613843 AR; Retinitis pigmentosa 14 600132 AR
Albinism or congenital nystagmus v0.15 MYO5A Ivone Leong gene: MYO5A was added
gene: MYO5A was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR
Albinism or congenital nystagmus v0.15 MLPH Ivone Leong gene: MLPH was added
gene: MLPH was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR
Albinism or congenital nystagmus v0.15 MANBA Ivone Leong gene: MANBA was added
gene: MANBA was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR
Albinism or congenital nystagmus v0.15 DTNBP1 Ivone Leong gene: DTNBP1 was added
gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR
Albinism or congenital nystagmus v0.15 BLOC1S6 Ivone Leong gene: BLOC1S6 was added
gene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR
Albinism or congenital nystagmus v0.15 BLOC1S3 Ivone Leong gene: BLOC1S3 was added
gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8 614077 AR
Albinism or congenital nystagmus v0.15 AP3D1 Ivone Leong gene: AP3D1 was added
gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR
Albinism or congenital nystagmus v0.15 SLC38A8 Ivone Leong gene: SLC38A8 was added
gene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: NHS GMS
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 24290379; 29345414; 24045842
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR
Albinism or congenital nystagmus v0.14 SETX Ivone Leong Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 SACS Ivone Leong Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 RAB27A Ivone Leong Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 PAX6 Ivone Leong Added phenotypes Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD for gene: PAX6
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 HPS6 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 CASK Ivone Leong Added phenotypes Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 for gene: CASK
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 CACNA1F Ivone Leong Added phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL for gene: CACNA1F
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.14 AP3B1 Ivone Leong Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.102 DNM1L Ivone Leong Publications for gene: DNM1L were set to 28969390
Optic neuropathy v1.101 CISD2 Ivone Leong Classified gene: CISD2 as Green List (high evidence)
Optic neuropathy v1.101 CISD2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. A phenotype is associated with CISD2 in OMIM and Gene2phenotype. Optic atrophy is a phenotype of Wolfram syndrome and there are >3 unrelated cases of different variants in this gene. Based on this evidence and the expert review it was decided that there is enough evidence to promote this gene to green.
Optic neuropathy v1.101 CISD2 Ivone Leong Gene: cisd2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.50 PRKAG2 Matthew Edwards reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26835038, 15673802; Phenotypes: Cardiomyopathy, familial hypertrophic 6 (600858), Glycogen storage disease of heart, lethal congenital (261740), Wolff-Parkinson-White syndrome (194200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.100 CISD2 Ivone Leong Publications for gene: CISD2 were set to
Hypertrophic cardiomyopathy v1.50 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313, 27532257, 28369730, 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 LAMP2 Matthew Edwards reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26835038; Phenotypes: Danon disease (300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v1.50 GLA Matthew Edwards reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, cardiac variant (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)
Optic neuropathy v1.99 C19orf12 Ivone Leong Classified gene: C19orf12 as Green List (high evidence)
Optic neuropathy v1.99 C19orf12 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. C19orf12 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of different variants in OMIM. Based on this and the expert review, it was decided that there is enough evidence to promote this gene to a green rating.
Optic neuropathy v1.99 C19orf12 Ivone Leong Gene: c19orf12 has been classified as Green List (High Evidence).
Cytopenia - NOT Fanconi anaemia v0.32 PARN Louise Daugherty Phenotypes for gene: PARN were changed from 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6,; 616353 Dyskeratosis congenita, autosomal recessive 6 to 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; 616353 Dyskeratosis congenita, autosomal recessive 6
Hypertrophic cardiomyopathy v1.50 FHL1 Matthew Edwards reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 20186852, 22523091, 29926425; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic neuropathy v1.98 C12orf65 Ivone Leong Classified gene: C12orf65 as Green List (high evidence)
Optic neuropathy v1.98 C12orf65 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. C12orf65 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases with different variants in this gene described in OMIM associated with optic atrophy. Therefore, based on the former and the evidence provided by the expert review, there is enough evidence to promote this gene to green status.
Optic neuropathy v1.98 C12orf65 Ivone Leong Gene: c12orf65 has been classified as Green List (High Evidence).
Optic neuropathy v1.97 C12orf65 Ivone Leong Publications for gene: C12orf65 were set to 28091420; 25995486
Hypertrophic cardiomyopathy v1.50 CSRP3 Matthew Edwards reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 JPH2 Matthew Edwards reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TNNC1 Matthew Edwards reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYL2 Matthew Edwards reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYL3 Matthew Edwards reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TPM1 Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TNNI3 Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.50 TNNT2 Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYH7 Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYBPC3 Matthew Edwards reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 TRDN Matthew Edwards reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, ARVC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 CASQ2 Matthew Edwards reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16908766; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, LQTS 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 CAV3 Matthew Edwards reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: 17060380; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.95 ZNHIT3 Ivone Leong Phenotypes for gene: ZNHIT3 were changed from to Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565
Optic neuropathy v1.94 ZNHIT3 Ivone Leong Publications for gene: ZNHIT3 were set to
Optic neuropathy v1.93 ZNHIT3 Ivone Leong Mode of inheritance for gene: ZNHIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.92 YME1L1 Ivone Leong Phenotypes for gene: YME1L1 were changed from to Optic atrophy 617302; sensorineural hearing impairment; ataxia; other CNS symptoms (OPA11)
Optic neuropathy v1.91 YME1L1 Ivone Leong Publications for gene: YME1L1 were set to
Optic neuropathy v1.90 YME1L1 Ivone Leong Mode of inheritance for gene: YME1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.89 TSFM Ivone Leong Phenotypes for gene: TSFM were changed from to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505
Optic neuropathy v1.88 TSFM Ivone Leong Publications for gene: TSFM were set to
Optic neuropathy v1.87 TSFM Ivone Leong Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.86 TBC1D20 Ivone Leong Phenotypes for gene: TBC1D20 were changed from to WARBURG MICRO SYNDROME 4 615663
Optic neuropathy v1.85 TBC1D20 Ivone Leong Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.23 SNTA1 Matthew Edwards reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.84 SPG7 Ivone Leong Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Optic neuropathy v1.83 SPG7 Ivone Leong Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.82 SDHA Ivone Leong Phenotypes for gene: SDHA were changed from to Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011
Optic neuropathy v1.81 SDHA Ivone Leong Publications for gene: SDHA were set to
Optic neuropathy v1.80 SDHA Ivone Leong Mode of inheritance for gene: SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.79 RAB3GAP1 Ivone Leong Phenotypes for gene: RAB3GAP1 were changed from to WARBURG MICRO SYNDROME 1, 600118
Optic neuropathy v1.78 RAB3GAP1 Ivone Leong Publications for gene: RAB3GAP1 were set to
Optic neuropathy v1.77 RAB3GAP1 Ivone Leong Mode of inheritance for gene: RAB3GAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.76 NEFH Ivone Leong Phenotypes for gene: NEFH were changed from to CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924
Optic neuropathy v1.75 NEFH Ivone Leong Mode of inheritance for gene: NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.74 NDUFS3 Ivone Leong Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8, 618230
Optic neuropathy v1.73 NDUFS3 Ivone Leong Publications for gene: NDUFS3 were set to
Optic neuropathy v1.72 NDUFS3 Ivone Leong Mode of inheritance for gene: NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.71 NDUFS2 Ivone Leong Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, 618228
Optic neuropathy v1.70 NDUFS2 Ivone Leong Publications for gene: NDUFS2 were set to
Optic neuropathy v1.69 NDUFS2 Ivone Leong Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.68 NDUFS1 Ivone Leong Phenotypes for gene: NDUFS1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226
Optic neuropathy v1.67 NDUFS1 Ivone Leong Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.66 MTPAP Ivone Leong Phenotypes for gene: MTPAP were changed from to SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
Optic neuropathy v1.65 MTPAP Ivone Leong Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ5 Matthew Edwards reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 ANK2 Matthew Edwards reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.64 LYST Ivone Leong Publications for gene: LYST were set to PMID: 26307451
Optic neuropathy v1.63 KIF7 Ivone Leong Phenotypes for gene: KIF7 were changed from to ACROCALLOSAL SYNDROME, 200990
Optic neuropathy v1.62 KIF7 Ivone Leong Mode of inheritance for gene: KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.61 GP1BA Ivone Leong Mode of inheritance for gene: GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.60 FXN Ivone Leong Phenotypes for gene: FXN were changed from to Friedreich ataxia (FRDA), 229300
Optic neuropathy v1.59 FXN Ivone Leong Publications for gene: FXN were set to
Optic neuropathy v1.58 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.57 DNAJC19 Ivone Leong Phenotypes for gene: DNAJC19 were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198
Optic neuropathy v1.56 DNAJC19 Ivone Leong Publications for gene: DNAJC19 were set to
Optic neuropathy v1.55 DNAJC19 Ivone Leong Mode of inheritance for gene: DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.54 AUH Ivone Leong Phenotypes for gene: AUH were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950
Optic neuropathy v1.53 AUH Ivone Leong Mode of inheritance for gene: AUH was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.52 ATAD3A Ivone Leong Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome: optic atrophy, peripheral neuropathy, delayed psychomotor development, intellectual disability, spastic paraplegia (HAYOS), 617183
Optic neuropathy v1.51 ATAD3A Ivone Leong Publications for gene: ATAD3A were set to
Optic neuropathy v1.50 ATAD3A Ivone Leong Mode of inheritance for gene: ATAD3A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.49 ALG3 Ivone Leong Phenotypes for gene: ALG3 were changed from to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110
Optic neuropathy v1.48 ALG3 Ivone Leong Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.47 POLG Ivone Leong Phenotypes for gene: POLG were changed from to PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
Optic neuropathy v1.46 POLG Ivone Leong Mode of inheritance for gene: POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.45 MFF Ivone Leong Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Optic neuropathy v1.44 MFF Ivone Leong Publications for gene: MFF were set to
Optic neuropathy v1.43 MFF Ivone Leong Mode of inheritance for gene: MFF was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.42 DNM1L Ivone Leong Phenotypes for gene: DNM1L were changed from to OPTIC ATROPHY 5, 610708
Optic neuropathy v1.41 DNM1L Ivone Leong Publications for gene: DNM1L were set to
Optic neuropathy v1.40 DNM1L Ivone Leong Mode of inheritance for gene: DNM1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.39 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from to WOLFRAM SYNDROME 2, 604928
Optic neuropathy v1.38 CISD2 Ivone Leong Mode of inheritance for gene: CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.37 C19orf12 Ivone Leong Phenotypes for gene: C19orf12 were changed from to SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298
Optic neuropathy v1.36 C19orf12 Ivone Leong Publications for gene: C19orf12 were set to
Optic neuropathy v1.35 C19orf12 Ivone Leong Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.34 C12orf65 Ivone Leong Phenotypes for gene: C12orf65 were changed from to SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035
Optic neuropathy v1.33 C12orf65 Ivone Leong Publications for gene: C12orf65 were set to
Optic neuropathy v1.32 C12orf65 Ivone Leong Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.31 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from to SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487; SPINOCEREBELLAR ATAXIA 28, 610246
Optic neuropathy v1.30 AFG3L2 Ivone Leong Publications for gene: AFG3L2 were set to
Optic neuropathy v1.29 AFG3L2 Ivone Leong Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 ZNHIT3 Tom Cullup reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020; Phenotypes: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 YME1L1 Tom Cullup reviewed gene: YME1L1: Rating: RED; Mode of pathogenicity: ; Publications: 30544562; Phenotypes: Optic atrophy 617302, sensorineural hearing impairment, ataxia, other CNS symptoms (OPA11); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 TSFM Tom Cullup reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: 25037205; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 TBC1D20 Tom Cullup reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WARBURG MICRO SYNDROME 4 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 SDHA Tom Cullup reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: 27683074; Phenotypes: Leigh syndrome, 256000, mitochondrial respiratory chain complex II deficiency 252011; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 RAB3GAP1 Tom Cullup reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: ; Publications: 26421802; Phenotypes: WARBURG MICRO SYNDROME 1, 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 NEFH Tom Cullup reviewed gene: NEFH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.28 NDUFS3 Tom Cullup reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: ; Publications: 14729820; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS2 Tom Cullup reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: ; Publications: 28031252; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS1 Tom Cullup reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 MTPAP Tom Cullup reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 LYST Tom Cullup reviewed gene: LYST: Rating: RED; Mode of pathogenicity: ; Publications: 26307451, 23521865; Phenotypes: Optic neuropathy in late-onset neurodegenerative Ch diak Higashi syndrome lacking features of ocular albinism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 KIF7 Tom Cullup reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ACROCALLOSAL SYNDROME, 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 GP1BA Tom Cullup reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 FXN Tom Cullup reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: 19268652; Phenotypes: Friedreich ataxia (FRDA), 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 DNAJC19 Tom Cullup reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: 27054461, 16055927; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 AUH Tom Cullup reviewed gene: AUH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 ATAD3A Tom Cullup reviewed gene: ATAD3A: Rating: RED; Mode of pathogenicity: ; Publications: 27640307; Phenotypes: Harel-Yoon syndrome: optic atrophy, peripheral neuropathy, delayed psychomotor development, intellectual disability, spastic paraplegia (HAYOS), 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 ALG3 Tom Cullup reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 WFS1 Tom Cullup reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 TMEM126A Tom Cullup reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19327736, 20405026, 22815638; Phenotypes: Optic Atrophy, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 TIMM8A Tom Cullup reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11803487; Phenotypes: deafness-dystonia-optic neuropathy syndrome, Mohr-Tranebjaerg syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Optic neuropathy v1.28 SPG7 Tom Cullup reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 SLC52A2 Tom Cullup reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243084, 22864630; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 SLC25A46 Tom Cullup reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168012, 28369803; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 RTN4IP1 Tom Cullup reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: early-onset recessive optic neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 POLG Tom Cullup reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 OPA3 Tom Cullup reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25159689, 26190011; Phenotypes: Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 OPA1 Tom Cullup reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Optic neuropathy v1.28 NR2F1 Tom Cullup reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410510, 28963436, 28654857, 26986877, 24462372, 23300014; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Optic neuropathy v1.28 MT-ND6 Tom Cullup reviewed gene: MT-ND6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 24884847, 24417559, 24398099; Phenotypes: Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ND4 Tom Cullup reviewed gene: MT-ND4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 20301353, 27159682, 26683077, 23805034, 23665487, 22553750; Phenotypes: Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ND1 Tom Cullup reviewed gene: MT-ND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 27449621, 20301353, 27177320, 24884847, 24800637, 23665487; Phenotypes: Optic neuropathy and nystagmus, External ophthalmoplegia, Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ATP6 Tom Cullup reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7726182, 10676807, 26448634, 26252090, 24118886 (functional evidence), 23266623; Phenotypes: Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MFN2 Tom Cullup reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26955893, 26306937, 21715711; Phenotypes: Optic Atrophy, Hereditary motor and sensory neuropathy VIA, Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087, Hereditary motor and sensory neuropathy VIA (AD), 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 MFF Tom Cullup reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 30581454, 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 DNM1L Tom Cullup reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 28969390; Phenotypes: OPTIC ATROPHY 5, 610708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.28 CISD2 Tom Cullup reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WOLFRAM SYNDROME 2, 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 C19orf12 Tom Cullup reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27772766, 26187298, 24209434, 22584950; Phenotypes: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 C12orf65 Tom Cullup reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28091420, 25995486; Phenotypes: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 ACO2 Tom Cullup reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, 616289, optic atrophy, nystagmus, Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 AFG3L2 Tom Cullup reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29181157, 26539208, 30544562; Phenotypes: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487, SPINOCEREBELLAR ATAXIA 28, 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.27 ZNHIT3 Ivone Leong gene: ZNHIT3 was added
gene: ZNHIT3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to
Optic neuropathy v1.27 YME1L1 Ivone Leong gene: YME1L1 was added
gene: YME1L1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: YME1L1 was set to
Optic neuropathy v1.27 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSFM was set to
Optic neuropathy v1.27 TBC1D20 Ivone Leong gene: TBC1D20 was added
gene: TBC1D20 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TBC1D20 was set to
Optic neuropathy v1.27 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHA was set to
Optic neuropathy v1.27 RAB3GAP1 Ivone Leong gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RAB3GAP1 was set to
Optic neuropathy v1.27 NEFH Ivone Leong gene: NEFH was added
gene: NEFH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEFH was set to
Optic neuropathy v1.27 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to
Optic neuropathy v1.27 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS2 was set to
Optic neuropathy v1.27 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS1 was set to
Optic neuropathy v1.27 MTPAP Ivone Leong gene: MTPAP was added
gene: MTPAP was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTPAP was set to
Optic neuropathy v1.27 LYST Ivone Leong Source London North GLH was added to LYST.
Optic neuropathy v1.27 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIF7 was set to
Optic neuropathy v1.27 GP1BA Ivone Leong Source London North GLH was added to GP1BA.
Optic neuropathy v1.27 FXN Ivone Leong gene: FXN was added
gene: FXN was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FXN was set to
Optic neuropathy v1.27 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAJC19 was set to
Optic neuropathy v1.27 AUH Ivone Leong gene: AUH was added
gene: AUH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AUH was set to
Optic neuropathy v1.27 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATAD3A was set to
Optic neuropathy v1.27 ALG3 Ivone Leong gene: ALG3 was added
gene: ALG3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG3 was set to
Optic neuropathy v1.27 WFS1 Ivone Leong Source London North GLH was added to WFS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 TMEM126A Ivone Leong Source London North GLH was added to TMEM126A.
Optic neuropathy v1.27 TIMM8A Ivone Leong Source London North GLH was added to TIMM8A.
Optic neuropathy v1.27 SPG7 Ivone Leong Source London North GLH was added to SPG7.
Optic neuropathy v1.27 SLC52A2 Ivone Leong Source London North GLH was added to SLC52A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 SLC25A46 Ivone Leong Source London North GLH was added to SLC25A46.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 RTN4IP1 Ivone Leong Source London North GLH was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: POLG was set to
Optic neuropathy v1.27 OPA3 Ivone Leong Source London North GLH was added to OPA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 OPA1 Ivone Leong Source London North GLH was added to OPA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 NR2F1 Ivone Leong Source London North GLH was added to NR2F1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND6 Ivone Leong Source London North GLH was added to MT-ND6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND4 Ivone Leong Source London North GLH was added to MT-ND4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND1 Ivone Leong Source London North GLH was added to MT-ND1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ATP6 Ivone Leong Source London North GLH was added to MT-ATP6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MFN2 Ivone Leong Source London North GLH was added to MFN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MFF Ivone Leong gene: MFF was added
gene: MFF was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: MFF was set to
Optic neuropathy v1.27 DNM1L Ivone Leong gene: DNM1L was added
gene: DNM1L was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: DNM1L was set to
Optic neuropathy v1.27 CISD2 Ivone Leong gene: CISD2 was added
gene: CISD2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: CISD2 was set to
Optic neuropathy v1.27 C19orf12 Ivone Leong gene: C19orf12 was added
gene: C19orf12 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: C19orf12 was set to
Optic neuropathy v1.27 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: C12orf65 was set to
Optic neuropathy v1.27 ACO2 Ivone Leong Source London North GLH was added to ACO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: AFG3L2 was set to
Long QT syndrome v1.23 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29798782; Phenotypes: Atrial fibrillation, familial, 10 614022, Brugada syndrome 1 601144, Cardiomyopathy, dilated, 1E 601154, Heart block, nonprogressive 113900, Heart block, progressive, type IA 113900, Long QT syndrome-3 603830, Sick sinus syndrome 1 608567, Ventricular fibrillation, familial, 1 603829, Sudden infant death syndrome, susceptibility to272120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNQ1 Matthew Edwards reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LQTS-1 (192500), SQTS 2 (609621), JLNS (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ2 Matthew Edwards reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen Tawil syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNH2 Matthew Edwards reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNE2 Matthew Edwards reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNE1 Matthew Edwards reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716085; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 CACNA1C Matthew Edwards reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 18250309, 25633834, 24728418; Phenotypes: Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Deleted their comment
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Classified gene: TP53 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Classified gene: TP53 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Gene: tp53 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.43 TERT Louise Daugherty Publications for gene: TERT were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.42 TERT Louise Daugherty Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid} to 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Classified gene: TERT as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Gene: tert has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Classified gene: RUNX1 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Gene: runx1 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.39 RUNX1 Louise Daugherty Publications for gene: RUNX1 were set to 19357396; 23926458; 11830488
Inherited predisposition to acute myeloid leukaemia (AML) v0.38 GATA2 Louise Daugherty Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID) to 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to}
Inherited predisposition to acute myeloid leukaemia (AML) v0.37 GATA2 Louise Daugherty Publications for gene: GATA2 were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Classified gene: GATA2 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Gene: gata2 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.35 ANKRD26 Louise Daugherty Publications for gene: ANKRD26 were set to 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.34 CEBPA Louise Daugherty Publications for gene: CEBPA were set to 15575056; 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.33 DDX41 Louise Daugherty Publications for gene: DDX41 were set to 25920683; 2671290930466750; 27895058; 27069254
Inherited predisposition to acute myeloid leukaemia (AML) v0.32 DDX41 Louise Daugherty Publications for gene: DDX41 were set to 25920683; 26712909
Inherited predisposition to acute myeloid leukaemia (AML) v0.31 ETV6 Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic
Inherited predisposition to acute myeloid leukaemia (AML) v0.30 ETV6 Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 / 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic
Inherited predisposition to acute myeloid leukaemia (AML) v0.29 TERC Louise Daugherty Phenotypes for gene: TERC were changed from 127550 (OMIM phenotype description ID); 614743 {Aplastic anemia}; 127550 / 614743 {Aplastic anemia} to Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743
Inherited predisposition to acute myeloid leukaemia (AML) v0.28 TERC Louise Daugherty Publications for gene: TERC were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Classified gene: ANKRD26 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Gene: ankrd26 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Classified gene: SAMD9 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Gene: samd9 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Classified gene: RTEL1 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Classified gene: ACD as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Gene: acd has been classified as Amber List (Moderate Evidence).