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Intellectual disability v8.30 WDR83OS Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are nine unrelated families reported with biallelic WDR83OS variants and a neurodevelopmental disorder comprising intellectual disability/ developmental delay. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v8.30 WDR83OS Achchuthan Shanmugasundram Gene: wdr83os has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.29 WDR83OS Achchuthan Shanmugasundram Phenotypes for gene: WDR83OS were changed from Intellectual disability to complex neurodevelopmental disorder, MONDO:0100038; intellectual disability, MONDO:0001071
Intellectual disability v8.29 WDR83OS Achchuthan Shanmugasundram Publications for gene: WDR83OS were set to 30250217
Intellectual disability v8.28 WDR83OS Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR83OS.
Intellectual disability v8.28 WDR83OS Achchuthan Shanmugasundram reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 39471804; Phenotypes: complex neurodevelopmental disorder, MONDO:0100038, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v7.6 ACSF3 Arina Puzriakova Publications for gene: ACSF3 were set to 21785126; 26915364; 30740739; 26827111; 27604308; 21841779
Likely inborn error of metabolism v7.5 ACSF3 Arina Puzriakova Phenotypes for gene: ACSF3 were changed from Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria to Combined malonic and methylmalonic aciduria, OMIM:614265
Likely inborn error of metabolism v7.5 ACSF3 Arina Puzriakova Publications for gene: ACSF3 were set to 27604308
Likely inborn error of metabolism v7.4 ACSF3 Arina Puzriakova commented on gene: ACSF3
Intellectual disability v8.28 MARK2 Achchuthan Shanmugasundram Classified gene: MARK2 as Amber List (moderate evidence)
Intellectual disability v8.28 MARK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, 31 individuals were reported with intellectual disability/ developmental delay and with monoallelic MARK2 variants. ID/ DD was severe in seven, moderate in two, mild and/or borderline in four and unspecified in 17. In addition, functional evidence is also available.

This gene can therefore be promoted to green rating in the next GMS update.
Intellectual disability v8.28 MARK2 Achchuthan Shanmugasundram Gene: mark2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.27 MARK2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Intellectual disability v8.27 MARK2 Achchuthan Shanmugasundram Phenotypes for gene: MARK2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v8.26 MARK2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MARK2.
Intellectual disability v8.26 MARK2 Achchuthan Shanmugasundram Phenotypes for gene: MARK2 were changed from Neurodevelopmental disorder MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v8.25 MARK2 Achchuthan Shanmugasundram reviewed gene: MARK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39419027, 39436150; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.131 LRP12 Christopher Record reviewed gene: LRP12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39013564; Phenotypes: CMT2, HMN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v7.13 AASS Arina Puzriakova Classified gene: AASS as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.13 AASS Arina Puzriakova Gene: aass has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.12 AASS Arina Puzriakova gene: AASS was added
gene: AASS was added to Early onset or syndromic epilepsy. Sources: Literature
Q3_24_promote_green tags were added to gene: AASS.
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 23890588; 10775527; 27604308; 23570448
Phenotypes for gene: AASS were set to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Review for gene: AASS was set to GREEN
Added comment: AASS associated with hyperlysinemia in ClinGen (definitive), G2P (strong) and OMIM. At least 10 probands in 4 publications (PMIDs: 23890588, 10775527, 27604308, 23570448), of which at least 4 cases had epilepsy. Seizures can represent an early feature of the disorder which supports inclusion of AASS on this panel.

This gene-disease relationship is supported by its biochemical function in lysine catabolism and a knock-in mouse model which recapitulates the human phenotype of hyperlysinemia (PMID: 35135854).
Sources: Literature
Likely inborn error of metabolism v7.4 AASS Arina Puzriakova Publications for gene: AASS were set to 27604308
Likely inborn error of metabolism v7.3 AASS Arina Puzriakova commented on gene: AASS
Severe microcephaly v7.6 SLC4A10 Arina Puzriakova Entity copied from Intellectual disability v8.25
Severe microcephaly v7.6 SLC4A10 Arina Puzriakova gene: SLC4A10 was added
gene: SLC4A10 was added to Severe microcephaly. Sources: Expert Review Amber,Other
Q3_24_promote_green tags were added to gene: SLC4A10.
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 37459438; 38054405; 31130284
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
Early onset or syndromic epilepsy v7.11 SLC4A10 Arina Puzriakova Entity copied from Intellectual disability v8.25
Early onset or syndromic epilepsy v7.11 SLC4A10 Arina Puzriakova gene: SLC4A10 was added
gene: SLC4A10 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Other
Q3_24_promote_green tags were added to gene: SLC4A10.
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 37459438; 38054405; 31130284
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
Intellectual disability v8.25 SLC4A10 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SLC4A10.
Intellectual disability v8.25 SLC4A10 Arina Puzriakova Publications for gene: SLC4A10 were set to 37459438; 38054405
Intellectual disability v8.24 SLC4A10 Arina Puzriakova Classified gene: SLC4A10 as Amber List (moderate evidence)
Intellectual disability v8.24 SLC4A10 Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 620746). Over 10 unrelated cases reported in literature with biallelic variants in this gene, presenting with a neurodevelopmental disorder characterised by hypotonia, delayed psychomotor development and intellectual impairment. Microcephaly (<−3 SDS) and epilepsy are also variably observed but there are sufficient to rate as green in the context of these features.

Overall sufficient evidence to promote this gene to Green at the next GMS panel update.
Intellectual disability v8.24 SLC4A10 Arina Puzriakova Gene: slc4a10 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.23 SLC4A10 Arina Puzriakova Phenotypes for gene: SLC4A10 were changed from to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
White matter disorders and cerebral calcification - narrow panel v6.2 SLC13A3 Arina Puzriakova Entity copied from Mitochondrial disorders v8.7
White matter disorders and cerebral calcification - narrow panel v6.2 SLC13A3 Arina Puzriakova gene: SLC13A3 was added
gene: SLC13A3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature
Q3_24_promote_green tags were added to gene: SLC13A3.
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to 30635937; 34966709; 35527102; 37290914; 38235040; 33340416
Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Penetrance for gene: SLC13A3 were set to Complete
Likely inborn error of metabolism v7.3 SLC13A3 Arina Puzriakova Entity copied from Mitochondrial disorders v8.7
Likely inborn error of metabolism v7.3 SLC13A3 Arina Puzriakova gene: SLC13A3 was added
gene: SLC13A3 was added to Likely inborn error of metabolism. Sources: Expert Review Amber,Literature
Q3_24_promote_green tags were added to gene: SLC13A3.
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to 30635937; 34966709; 35527102; 37290914; 38235040; 33340416
Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Penetrance for gene: SLC13A3 were set to Complete
Early onset or syndromic epilepsy v7.10 SLC13A3 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SLC13A3.
Mitochondrial disorders v8.7 SLC13A3 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SLC13A3.
Early onset or syndromic epilepsy v7.10 SLC13A3 Arina Puzriakova Publications for gene: SLC13A3 were set to 38235040; 34966709; 30635937
Mitochondrial disorders v8.7 SLC13A3 Arina Puzriakova Publications for gene: SLC13A3 were set to PMID: 33340416; PMID: 30635937
Mitochondrial disorders v8.6 SLC13A3 Arina Puzriakova Classified gene: SLC13A3 as Amber List (moderate evidence)
Mitochondrial disorders v8.6 SLC13A3 Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 618384). At least 9 unrelated cases with biallelic variants in this gene and acute reversible leukoencephalopathy with increased urinary α-ketoglutarate, arising in the context of a febrile illness (PMID: 30635937; 34966709; 35527102; 37290914; 38235040).

Sufficient evidence to promote SLC13A3 to Green at the next GMS panel update.
Mitochondrial disorders v8.6 SLC13A3 Arina Puzriakova Gene: slc13a3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.9 SLC13A3 Arina Puzriakova Classified gene: SLC13A3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.9 SLC13A3 Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 618384). At least 9 unrelated cases with biallelic variants in this gene and acute reversible leukoencephalopathy with increased urinary α-ketoglutarate, arising in the context of a febrile illness (PMID: 30635937; 34966709; 35527102; 37290914; 38235040).

Sufficient evidence to promote SLC13A3 to Green at the next GMS panel update.
Early onset or syndromic epilepsy v7.9 SLC13A3 Arina Puzriakova Gene: slc13a3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v8.5 SLC13A3 Arina Puzriakova Phenotypes for gene: SLC13A3 were changed from Sodium dicarboxylate cotransporter 3 deficiency; Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate; Encephalopathy; Ataxia to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Early onset or syndromic epilepsy v7.8 SLC13A3 Arina Puzriakova Phenotypes for gene: SLC13A3 were changed from to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Respiratory ciliopathies including non-CF bronchiectasis v3.21 TAPT1 Arina Puzriakova Mode of inheritance for gene: TAPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.20 TAPT1 Arina Puzriakova Classified gene: TAPT1 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.20 TAPT1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red in line with the Red review by Steven Cowman (Bristol Royal Infirmary). No reports of relevant phenotype associated with this gene.
Respiratory ciliopathies including non-CF bronchiectasis v3.20 TAPT1 Arina Puzriakova Gene: tapt1 has been classified as Red List (Low Evidence).
Hereditary ataxia v1.337 NUS1 Achchuthan Shanmugasundram Classified gene: NUS1 as Green List (high evidence)
Hereditary ataxia v1.337 NUS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available (~10 unrelated patients and functional evidence) for the promotion of this gene to green rating.
Hereditary ataxia v1.337 NUS1 Achchuthan Shanmugasundram Gene: nus1 has been classified as Green List (High Evidence).
Hereditary ataxia v1.336 NUS1 Achchuthan Shanmugasundram Phenotypes for gene: NUS1 were changed from intellectual disability; seizures; ataxia; dystonia; tremor to hereditary ataxia, MONDO:0100309
Hereditary ataxia v1.335 NUS1 Achchuthan Shanmugasundram Publications for gene: NUS1 were set to 33731878; 32334381; 32485575; 31656175
Hereditary ataxia v1.334 NUS1 Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656175, 32485575, 32959737, 33731878, 38291835; Phenotypes: hereditary ataxia, MONDO:0100309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel v7.6 NUS1 Achchuthan Shanmugasundram Classified gene: NUS1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v7.6 NUS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (~10 unrelated patients and functional evidence) for the association of this gene with ataxia. Hence, this gene can be promoted to green rating in the next GMS update.
Ataxia and cerebellar anomalies - narrow panel v7.6 NUS1 Achchuthan Shanmugasundram Gene: nus1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v7.5 NUS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUS1.
Ataxia and cerebellar anomalies - narrow panel v7.5 NUS1 Achchuthan Shanmugasundram gene: NUS1 was added
gene: NUS1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 32485575; 32959737; 33731878; 38291835
Phenotypes for gene: NUS1 were set to hereditary ataxia, MONDO:0100309
Review for gene: NUS1 was set to GREEN
Added comment: PMID:31656175 reported two unrelated patients with a novel de novo NUS1 variant and they presented with epileptic seizures with involuntary movement, ataxia, intellectual disability and scoliosis.

PMID:32485575 reported the identification of a novel heterozygous frameshift variant in NUS1 gene in five patients from a family with epilepsy. They all had cerebellar ataxia and tremor.

PMID:32959737 reported a 34-year-old female with NUS1 variant with a prominent and progressive generalised dystonia. She developed a slight head tremor at 18 months of age. Intellectual disability was diagnosed by second grade. She developed a mild but progressive gait ataxia, dysarthria, and dyscoordination of the hands.

PMID:33731878 reported three patients with de novo heterozygous NUS1 variants, of which two patients presented with ataxia. The third patient had no ataxia but was noted to have dysarthria. There is also functional evidence available from patient fibroblasts and zebrafish models.

PMID:38291835 reported five unrelated patients with NUS1 variants. They had onset of movement disorders ranging from birth to 13 years of age and four of them had mild gait ataxia.
Sources: Literature
Childhood onset dystonia, chorea or related movement disorder v6.3 NUS1 Achchuthan Shanmugasundram Classified gene: NUS1 as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v6.3 NUS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the association of this gene with childhood-onset movement disorder including dystonia. Hence, this gene can be promoted to green rating in the next GMS update.
Childhood onset dystonia, chorea or related movement disorder v6.3 NUS1 Achchuthan Shanmugasundram Gene: nus1 has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v6.2 NUS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUS1.
Childhood onset dystonia, chorea or related movement disorder v6.2 NUS1 Achchuthan Shanmugasundram gene: NUS1 was added
gene: NUS1 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 32334381; 32959737; 38291835
Phenotypes for gene: NUS1 were set to movement disorder, MONDO:0005395
Review for gene: NUS1 was set to GREEN
Added comment: PMID:32334381 reported a patient with childhood onset static and focal upper limb dystonia and was diagnosed with a monoallelic NUS1 variant via WES.

PMID:32959737 reported a 34-year-old patient with autosomal dominant NUS1 variant and with a prominent and progressive generalised dystonia.

PMID:38291835 reported five unrelated patients ranging from 13 to 53 years of age with monoallelic NUS1 variant. They presented with movement disorder and its onset ranged from birth to 13 years of age. Three of them had dystonia.
Sources: Literature
Retinal disorders v7.1 PAX6 Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Foveal hypoplasia 1, OMIM:136520, Microphthalmia/coloboma 12, OMIM:120200, ?Coloboma of optic nerve, OMIM:120430, Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.22 AFF3_GCC Sarah Leigh Tag NGS Not Validated was removed from STR: AFF3_GCC.
Intellectual disability v8.22 AFF3_GCC Sarah Leigh Tag NGS Not Validated tag was added to STR: AFF3_GCC.
Hereditary neuropathy v1.493 LRP12_CGG Arina Puzriakova LRP12 was changed to LRP12_CGG
Source Literature was removed from STR: LRP12_CGG.
Intellectual disability v8.22 AFF3_GCC Arina Puzriakova Gene was set to AFF3.
Intellectual disability v8.21 AFF3_GCC Arina Puzriakova AFF3 was changed to AFF3_GCC
Source Literature was removed from STR: AFF3_GCC.
Source Expert Review was added to STR: AFF3_GCC.
Publications for STR: AFF3_GCC were updated from PMID: 39313615 to 39313615
Intellectual disability v8.20 LINC01578 Sarah Leigh Tag new-gene-name tag was added to gene: LINC01578.
Tag Q3_24_promote_green tag was added to gene: LINC01578.
Tag Q3_24_NHS_review tag was added to gene: LINC01578.
Intellectual disability v8.20 LINC01578 Sarah Leigh reviewed gene: LINC01578: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.20 LINC01578 Sarah Leigh Classified gene: LINC01578 as Amber List (moderate evidence)
Intellectual disability v8.20 LINC01578 Sarah Leigh Gene: linc01578 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.19 AFF3 Riyaad Aungraheeta reviewed STR: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39313615; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v8.19 AFF3 Riyaad Aungraheeta Deleted their review
Intellectual disability v8.19 AFF3 Riyaad Aungraheeta STR: AFF3 was added
STR: AFF3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for STR: AFF3 was set to Unknown
Publications for STR: AFF3 were set to PMID: 39313615
Penetrance for STR: AFF3 were set to Incomplete
Review for STR: AFF3 was set to GREEN
Added comment: Sources: Literature
Early onset or syndromic epilepsy v7.7 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.7 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are five unrelated cases, the epilepsy phenotype is broad and there is contradictory functional evidence. Hence, this gene is currently rated as amber.

The 'watchlist' tag has been added to keep track of any new evidence.
Early onset or syndromic epilepsy v7.7 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: AJAP1.
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene, of which four patients presented with epilepsy.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Hannah Knight, PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene. Although four of these patients presented with seizures, the type of seizures varied across these individuals.

Two of these five cases had a conclusion of either 'benign' or 'unknown' in their evaluation of pathogenicity, where 'benign' was one of the four cases with seizures, where 'unknown' was the fifth case without seizures. One of the cases (Individual 1) has a missense variant that was evaluated as 'pathogenic'. But, functional studies in monoallelic knock in mice was not clearly supportive of this conclusion and the EEG in this mice appeared equivalent to wild type mouse. In addition, all missense variants of this gene in ClinVar are rated as VUS / benign.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Retinal disorders v7.1 FRMD7 Sarah Leigh changed review comment from: FRMD7 variants have been associated with Nystagmus 1, congenital, X-linked (OMIM:310700) and it is a definitive G2P gene for the same condition. In a multicenter study of the Genotypic and Phenotypic Spectrum of Foveal Hypoplasia (FH), Kuht et al (PMID: 35157951) report that FRMD7 variants are associated with 3.5% of the FH cases in the study population. This study also revealed that FRMD7 variants are involved in grade 1 FH or normal foveal morphology and consequently with a good visual acuity in the patients. It was postulated that this maybe due to the delayed action of the FRMD7 variants during development.; to: FRMD7 variants have been associated with Nystagmus 1, congenital, X-linked (OMIM:310700) and it is a definitive G2P gene for the same condition. In a multicenter study of the Genotypic and Phenotypic Spectrum of Foveal Hypoplasia (FH), Kuht et al (PMID: 35157951) report that FRMD7 variants are associated with 3.5% of the FH cases in the study population (a total of 17 FRMD7 variants are recorded in this study - supplementary file 4). This study also revealed that FRMD7 variants are involved in grade 1 FH or normal foveal morphology and consequently with a good visual acuity in the patients. It was postulated that this maybe due to the delayed action of the FRMD7 variants during development.
Retinal disorders v7.1 FRMD7 Sarah Leigh edited their review of gene: FRMD7: Changed rating: AMBER
Retinal disorders v7.1 FRMD7 Sarah Leigh reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 35157951; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram edited their review of gene: AJAP1: Changed rating: AMBER
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AJAP1.
Tag Q3_24_NHS_review was removed from gene: AJAP1.
Early onset or syndromic epilepsy v7.6 AJAP1 Achchuthan Shanmugasundram Deleted their comment
Cystic kidney disease v7.6 CYP24A1 Sarah Leigh changed review comment from: CYP24A1 variants have been associated with Hypercalcemia, infantile, 1 (OMIM:143880). PMIDs: 34307984; 22337913; 27105398; 28324001 report numerous biallelic CYP24A1 variants in cases of OMIM:143880, with the occurrence of kidney cysts. PMID: 34307984 also reports a family, where three of the members are monoallelic for CYP24A1 variants, but present with OMIM:143880 and 2/3 of these cases also have kidney cysts.; to: CYP24A1 variants have been associated with Hypercalcemia, infantile, 1 (OMIM:143880). PMIDs: 34307984; 22337913; 27105398; 28324001 report numerous biallelic CYP24A1 variants in cases of OMIM:143880, with the occurrence of kidney cysts. PMID: 34307984 also reports a family, where three of the members are monoallelic for CYP24A1 variants, but present with OMIM:143880 and 2/3 of these cases also have kidney cysts. However, as this is the only report of monoallelic variants for this gene associated with OMIM:143880, the mode of inheritance for this gene should be BIALLELIC, autosomal or pseudoautosomal.
Severe microcephaly v7.5 MIR17HG Arina Puzriakova Entity copied from Intellectual disability v8.19
Severe microcephaly v7.5 MIR17HG Arina Puzriakova gene: MIR17HG was added
gene: MIR17HG was added to Severe microcephaly. Sources: Expert Review,Expert Review Amber
deletions, watchlist, locus-type-rna-long-non-coding tags were added to gene: MIR17HG.
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIR17HG were set to 21892160; 19344873; 25391829; 26360630
Phenotypes for gene: MIR17HG were set to Feingold syndrome 2, 614326; FS2; Brachydactyly with short stature and microcephaly; Intellectual disability
Penetrance for gene: MIR17HG were set to Complete
Intellectual disability v8.19 MIR17HG Arina Puzriakova Classified gene: MIR17HG as Amber List (moderate evidence)
Intellectual disability v8.19 MIR17HG Arina Puzriakova Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.19 MIR17HG Arina Puzriakova Classified gene: MIR17HG as Amber List (moderate evidence)
Intellectual disability v8.19 MIR17HG Arina Puzriakova Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.18 MIR17HG Arina Puzriakova Source Expert Review was added to MIR17HG.
Rating Changed from No List (delete) to Red List (low evidence)
Intellectual disability v8.17 MIR17HG Arina Puzriakova All sources for gene: MIR17HG were removed
Intellectual disability v8.17 MIR17HG Arina Puzriakova All sources for gene: MIR17HG were removed
Optic neuropathy v4.38 MIEF1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MIEF1.
Tag Q3_24_NHS_review tag was added to gene: MIEF1.
Optic neuropathy v4.38 MIEF1 Sarah Leigh reviewed gene: MIEF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v4.38 MIEF1 Sarah Leigh Classified gene: MIEF1 as Amber List (moderate evidence)
Optic neuropathy v4.38 MIEF1 Sarah Leigh Gene: mief1 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v4.37 MIEF1 Sarah Leigh Phenotypes for gene: MIEF1 were changed from Optic atrophy 14 to Optic atrophy 14, OMIM:620550; optic atrophy 14, MONDO:0957824
Optic neuropathy v4.36 MIEF1 Sarah Leigh Publications for gene: MIEF1 were set to PMID: 33632269
Monogenic hearing loss v4.60 PLCG1 Sarah Leigh commented on gene: PLCG1: If PMID: 38260438 is accepted for publication, a green recommendation for PLCG1 would be made.
Monogenic hearing loss v4.60 PLCG1 Sarah Leigh changed review comment from: If PMID: 38260438 is accepted for publication, a green recommendation for PLCG1 would be made.; to: If the preprint PMID: 38260438 is accepted for publication, a green recommendation would be made for PLCG1.
Monogenic hearing loss v4.60 PLCG1 Sarah Leigh reviewed gene: PLCG1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic hearing loss v4.60 PLCG1 Sarah Leigh Publications for gene: PLCG1 were set to PMID: 38260438
Monogenic hearing loss v4.59 PLCG1 Sarah Leigh Classified gene: PLCG1 as Amber List (moderate evidence)
Monogenic hearing loss v4.59 PLCG1 Sarah Leigh Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v7.6 CYP24A1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CYP24A1.
Tag Q3_24_NHS_review tag was added to gene: CYP24A1.
Cystic kidney disease v7.6 CYP24A1 Sarah Leigh reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v7.6 CYP24A1 Sarah Leigh Phenotypes for gene: CYP24A1 were changed from cystic kidney disease; nephrocalcinosis; hypercalcaemia to Hypercalcemia, infantile, 1, OMIM:143880; hypercalcemia, infantile, 1, MONDO:0020739
Cystic kidney disease v7.5 CYP24A1 Sarah Leigh Classified gene: CYP24A1 as Amber List (moderate evidence)
Cystic kidney disease v7.5 CYP24A1 Sarah Leigh Gene: cyp24a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.16 LINC01578 Zornitza Stark gene: LINC01578 was added
gene: LINC01578 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LINC01578 were set to 39442041
Phenotypes for gene: LINC01578 were set to Neurodevelopmental disorder, MONDO:0700092, CHASERR-related
Review for gene: LINC01578 was set to GREEN
Added comment: CHASERR (aka LINC01578) encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Three unrelated children reported with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis, indicating bidirectional dosage sensitivity in human disease.
Sources: Literature
Intellectual disability v8.16 MARK2 Zornitza Stark gene: MARK2 was added
gene: MARK2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to 39419027; 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Intellectual disability v8.16 WDR83OS Zornitza Stark reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39471804; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.131 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v5.1 MB Zornitza Stark reviewed gene: MB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 TNFSF9 Boaz Palterer gene: TNFSF9 was added
gene: TNFSF9 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF9 were set to 35657354
Phenotypes for gene: TNFSF9 were set to EBV lymphoproliferation; smooth muscle tumors
Penetrance for gene: TNFSF9 were set to unknown
Review for gene: TNFSF9 was set to RED
Added comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.

They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells.
Sources: Literature
Adult onset neurodegenerative disorder v7.5 RAB32 Achchuthan Shanmugasundram Classified gene: RAB32 as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v7.5 RAB32 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although all reported cases were identified with the same p.Ser71Arg variant, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.
Adult onset neurodegenerative disorder v7.5 RAB32 Achchuthan Shanmugasundram Gene: rab32 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v7.4 RAB32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620923).
Adult onset neurodegenerative disorder v7.4 RAB32 Achchuthan Shanmugasundram Phenotypes for gene: RAB32 were changed from Parkinson’s disease to {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923
Adult onset neurodegenerative disorder v7.3 RAB32 Achchuthan Shanmugasundram Publications for gene: RAB32 were set to PMID: 38858457
Adult onset neurodegenerative disorder v7.2 RAB32 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAB32.
Adult onset neurodegenerative disorder v7.2 RAB32 Achchuthan Shanmugasundram reviewed gene: RAB32: Rating: GREEN; Mode of pathogenicity: None; Publications: 38614108, 38858457; Phenotypes: {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 IL27RA Achchuthan Shanmugasundram Classified gene: IL27RA as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 IL27RA Achchuthan Shanmugasundram Gene: il27ra has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.14 IL27RA Achchuthan Shanmugasundram changed review comment from: PMID:38509369 reported three children from two families with severe acute primary Epstein-Barr virus infection. One family was reported with a homozygous p.Gln96Ter variant and the other family was reported with compound heterozygous variants - an-inframe deletion of (p.Gln381_Ala395del) and a missense variant p.Arg446Gly. p.Arg446Gly was identified in homozygous state in 15 individuals from FinnGen database, which contains >400,000 individuals. Two of these individuals had hospital diagnoses of EBV infectious mononucleosis (IM). There is extensive ex vivo and in vitro data available, including mice model.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:38509369 reported three children from two families with severe acute primary Epstein-Barr virus infection. One family was reported with a homozygous p.Gln96Ter variant and the other family was reported with compound heterozygous variants - an-inframe deletion of (p.Gln381_Ala395del) and a missense variant p.Arg446Gly. p.Arg446Gly was enriched in the Finnish population (minor allele frequency = 0.0068) and was identified in homozygous state in 15 individuals from FinnGen database, which contains >400,000 individuals. Two of these individuals had hospital diagnoses of EBV infectious mononucleosis (IM). There is extensive ex vivo and in vitro data available, including mice model.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

The evidence available suggests that the rating should be borderline amber/ green due to functional data. Hence, the 'watchlist' tag has been added with amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.14 IL27RA Achchuthan Shanmugasundram Phenotypes for gene: IL27RA were changed from Severe EBV infection to Epstein-Barr virus infection, MONDO:0005111
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 IL27RA Achchuthan Shanmugasundram Tag watchlist tag was added to gene: IL27RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 IL27RA Achchuthan Shanmugasundram reviewed gene: IL27RA: Rating: AMBER; Mode of pathogenicity: None; Publications: 38509369; Phenotypes: Epstein-Barr virus infection, MONDO:0005111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 TRAF3 Achchuthan Shanmugasundram Classified gene: TRAF3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 TRAF3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 TRAF3 Achchuthan Shanmugasundram Gene: traf3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.12 TRAF3 Achchuthan Shanmugasundram Phenotypes for gene: TRAF3 were changed from Herpes simplex encephalitis, susceptibility to, 3; Defects in Intrinsic and Innate Immunity; {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849; Herpes simplex virus 1 encephalitis; Herpetic encephalitis (HSE); Defects in intrinsic and innate immunity to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, OMIM:614849; immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790
Primary immunodeficiency or monogenic inflammatory bowel disease v7.11 TRAF3 Achchuthan Shanmugasundram Publications for gene: TRAF3 were set to 24378539; 20832341; 32048120; 11296228; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v7.10 TRAF3 Achchuthan Shanmugasundram Mode of inheritance for gene: TRAF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 TRAF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRAF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 TRAF3 Achchuthan Shanmugasundram reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35960817; Phenotypes: immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 RELB Achchuthan Shanmugasundram Classified gene: RELB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 RELB Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available (four unrelated cases and functional work) for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 RELB Achchuthan Shanmugasundram Gene: relb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.8 RELB Achchuthan Shanmugasundram Phenotypes for gene: RELB were changed from Recurrent infections; Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity; Immunodeficiencies affecting cellular and humoral immunity; ?Immunodeficiency 53, 617585 to ?Immunodeficiency 53, OMIM:617585
Primary immunodeficiency or monogenic inflammatory bowel disease v7.7 RELB Achchuthan Shanmugasundram Publications for gene: RELB were set to 26385063; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RELB.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram commented on gene: RELB: PMID:26385063 reported three male patients from a related kindred with primary immunodeficiency and with a homozygous truncating variant in RELB (p.Tyr397Ter). All had recurrent upper and lower respiratory infections, one had ecthyma gangrenosum and developed a polyarticular arthritis with joint swelling, and another had a urinary tract infection.

PMID:36402602 reported three siblings presenting with predominately severe autoimmune manifestations involving the liver, gut, lung, and skin, as well as repeated infections. They were identified with homozygous p.Pro364Leu variant.

PMID:39231201 reported two unrelated adult patients with either homozygous (p.Q72Tfs*152) or compound heterozygous (p.Glu145Lys & p.Pro364Leu) loss-of-function variants. Both of them presented with combined immunodeficiency with early-onset severe bacterial, viral, and fungal diseases.

Functional evidence is also available from all three publications mentioned above.

This gene has been associated with immunodeficiency phenotype in OMIM (MIM #617585).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: 26385063, 36402602, 39231201; Phenotypes: ?Immunodeficiency 53, OMIM:617585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v5.1 MB Cassandra Smith gene: MB was added
gene: MB was added to Congenital myopathy. Sources: Other
Mode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MB were set to 30918256; 35527200; 34679218
Review for gene: MB was set to GREEN
Added comment: Seven unrelated families reported in the literature with the same His98Tyr variant, with haplotype analysis for six of these families suggesting a recurrent variant on different backgrounds.
Sources: Other
Respiratory ciliopathies including non-CF bronchiectasis v3.19 TAPT1 Steven Cowman reviewed gene: TAPT1: Rating: RED; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v8.4 MET Achchuthan Shanmugasundram Classified gene: MET as Amber List (moderate evidence)
Arthrogryposis v8.4 MET Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, two unrelated cases and functional evidence are available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Arthrogryposis v8.4 MET Achchuthan Shanmugasundram Gene: met has been classified as Amber List (Moderate Evidence).
Arthrogryposis v8.3 MET Achchuthan Shanmugasundram Phenotypes for gene: MET were changed from Arthrogryposis to ?Arthrogryposis, distal, type 11, OMIM:620019
Arthrogryposis v8.2 MET Achchuthan Shanmugasundram Publications for gene: MET were set to PMID: 38429387; 30777867
Arthrogryposis v8.1 MET Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MET.
Arthrogryposis v8.1 MET Achchuthan Shanmugasundram reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: None; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 11, OMIM:620019; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IL7.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Classified gene: IL7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Cassandra Smith, PMID:39352394 reported the identification of biallelic IL7 variants in four unrelated kindreds with combined immunodeficiency and recurrent infections. Extensive immunophenotyping revealed IL7 dependent and independent development of T cells.

As there is sufficient evidence available, this gene should be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Gene: il7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.5 IL7 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has not yet been associated with immunodeficiency phenotype either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.5 IL7 Achchuthan Shanmugasundram Phenotypes for gene: IL7 were changed from to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 IL7 Achchuthan Shanmugasundram reviewed gene: IL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39352394; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.16 CCDC88A Arina Puzriakova Publications for gene: CCDC88A were set to 26917597
Early onset or syndromic epilepsy v7.6 CCDC88A Arina Puzriakova Publications for gene: CCDC88A were set to 26917597; 30392057
Intellectual disability v8.15 CCDC88A Arina Puzriakova Phenotypes for gene: CCDC88A were changed from PEHO syndrome to PEHO syndrome-like, OMIM:617507
Severe microcephaly v7.4 CCDC88A Arina Puzriakova Publications for gene: CCDC88A were set to 26917597; 30392057
Early onset or syndromic epilepsy v7.5 CCDC88A Arina Puzriakova Phenotypes for gene: CCDC88A were changed from ?PEHO syndrome-like 617507 to PEHO syndrome-like, OMIM:617507
Severe microcephaly v7.3 CCDC88A Arina Puzriakova Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507; microcephaly to PEHO syndrome-like, OMIM:617507
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Tag watchlist was removed from gene: CCDC88A.
Tag Q3_24_promote_green tag was added to gene: CCDC88A.
Intellectual disability v8.14 CCDC88A Arina Puzriakova Classified gene: CCDC88A as Amber List (moderate evidence)
Intellectual disability v8.14 CCDC88A Arina Puzriakova Added comment: Comment on list classification: There are now at least 7 individuals from 4 unrelated families with biallelic variants in the CCDC88A gene (PMID: 26917597; 30392057; 37798908; 39334473), described to a PEHO-like syndrome with universal features including ID, epilepsy, microcephaly and optic nerve/cerebellar atrophy.

Sufficient unrelated cases with the same phenotype to promote this gene to green at the next GMS panel update.
Intellectual disability v8.14 CCDC88A Arina Puzriakova Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.13 CCDC88A Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: CCDC88A.
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Classified gene: CCDC88A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Added comment: Comment on list classification: There are now at least 7 individuals from 4 unrelated families with biallelic variants in the CCDC88A gene (PMID: 26917597; 30392057; 37798908; 39334473), described to a PEHO-like syndrome with universal features including ID, epilepsy, microcephaly and optic nerve/cerebellar atrophy.

Sufficient unrelated cases with the same phenotype to promote this gene to green at the next GMS panel update.
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Severe microcephaly v7.2 CCDC88A Arina Puzriakova Classified gene: CCDC88A as Amber List (moderate evidence)
Severe microcephaly v7.2 CCDC88A Arina Puzriakova Added comment: Comment on list classification: There are now at least 7 individuals from 4 unrelated families with biallelic variants in the CCDC88A gene (PMID: 26917597; 30392057; 37798908; 39334473), described to a PEHO-like syndrome with universal features including ID, epilepsy, microcephaly and optic nerve/cerebellar atrophy.

Sufficient unrelated cases with the same phenotype to promote this gene to green at the next GMS panel update.
Severe microcephaly v7.2 CCDC88A Arina Puzriakova Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Severe microcephaly v7.1 CCDC88A Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: CCDC88A.
Hereditary neuropathy or pain disorder v6.131 SPAST Arina Puzriakova Classified gene: SPAST as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.131 SPAST Arina Puzriakova Added comment: Comment on list classification: Axonal peripheral polyneuropathy was reported in at least 8 individuals with SPAST-related HSP (PMID:28572275) and has been recommended for this panel by Alex Rossor (UCL). The scope of this panel has now been expanded to include complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.131 SPAST Arina Puzriakova Gene: spast has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.130 OPA3 Eleanor Williams Phenotypes for gene: OPA3 were changed from Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 to Optic atrophy 3 with cataract, OMIM:165300; optic atrophy 3, MONDO:0008133
Hereditary neuropathy or pain disorder v6.129 OPA3 Eleanor Williams Publications for gene: OPA3 were set to
Hereditary neuropathy or pain disorder v6.128 OPA3 Eleanor Williams Added comment: Comment on mode of inheritance: Cases with peripheral neuropathy appear to be associated with autosomal dominant Optic atrophy 3 with cataract. This gene is also associated with a recessive condition in OMIM.
Hereditary neuropathy or pain disorder v6.128 OPA3 Eleanor Williams Mode of inheritance for gene: OPA3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v6.127 OPA3 Eleanor Williams Tag Q3_24_promote_green tag was added to gene: OPA3.
Tag Q3_24_NHS_review tag was added to gene: OPA3.
Hereditary neuropathy or pain disorder v6.127 OPA3 Eleanor Williams changed review comment from: Associated with 3-methylglutaconic aciduria, type III, OMIM:258501 (AR) and Optic atrophy 3 with cataract, OMIM:165300 (AD).

PMID:28050599 - Bourne et al 2017 - 1 case - woman with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a OPA3 c.235C > G p.(Leu79Val) variant that was confirmed to be de novo. The variant is not reported in gnomAD.

PMID: 31119193 - Horga et al 2019 - describe 2 families and one sporadic case with a syndromic form of OPA3-related autosomal dominant optic atrophy and cataract in which patients also show peripheral neuropathy. Heterozyous variants in OPA3 were identified c.23T>C (p.Met8Thr), c.313C>G (p.Gln105Glu) and c.313C>G (p.Gln105Glu) in each of the 3 families. In In 4 patients, the peripheral neuropathy was a major cause of disability or was severe enough to motivate the referral to specialists.

PMID:21036400 - Yu-Wai-Man et al 2011 - no patients with OPA3 variants reported, only OPA1 variants.; to: Associated with 3-methylglutaconic aciduria, type III, OMIM:258501 (AR) and Optic atrophy 3 with cataract, OMIM:165300 (AD).

PMID:28050599 - Bourne et al 2017 - 1 case - woman with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a OPA3 c.235C > G p.(Leu79Val) variant that was confirmed to be de novo. The variant is not reported in gnomAD.

PMID: 31119193 - Horga et al 2019 - describe 2 families and one sporadic case with a syndromic form of OPA3-related autosomal dominant optic atrophy and cataract in which patients also show peripheral neuropathy. Heterozyous variants in OPA3 were identified c.23T>C (p.Met8Thr), c.313C>G (p.Gln105Glu) and c.313C>G (p.Gln105Glu) in each of the 3 families. In 4 patients, the peripheral neuropathy was a major cause of disability or was severe enough to motivate the referral to specialists.

PMID:21036400 - Yu-Wai-Man et al 2011 - no patients with OPA3 variants reported, only OPA1 variants.
Hereditary neuropathy or pain disorder v6.127 OPA3 Eleanor Williams reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050599, 31119193; Phenotypes: Optic atrophy 3 with cataract, OMIM:165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v6.127 SPAST Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SPAST.
Tag Q3_24_NHS_review tag was added to gene: SPAST.
Hereditary neuropathy or pain disorder v6.127 PRNP Arina Puzriakova Classified gene: PRNP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.127 PRNP Arina Puzriakova Added comment: Comment on list classification: Neuropathy (predominantly sensory and autonomic) has been reported in at least 7 unrelated families with PRNP-related prion disease, which can present as an early and/or isolated feature. The scope of this panel has now been expanded to include complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.127 PRNP Arina Puzriakova Gene: prnp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.126 PRNP Arina Puzriakova Phenotypes for gene: PRNP were changed from to Creutzfeldt-Jakob disease, OMIM:123400; dementia; autonomic neuropathy; sensory neuropathy
Hereditary neuropathy or pain disorder v6.125 PRNP Arina Puzriakova Publications for gene: PRNP were set to 24224623
Hereditary neuropathy or pain disorder v6.124 PRNP Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PRNP.
Tag Q3_24_NHS_review tag was added to gene: PRNP.
Hereditary neuropathy or pain disorder v6.124 POLG Achchuthan Shanmugasundram Classified gene: POLG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.124 POLG Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, peripheral neuropathy is a well-established feature of POLG disease and hence this gene should be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.124 POLG Achchuthan Shanmugasundram Gene: polg has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.123 POLG Achchuthan Shanmugasundram Phenotypes for gene: POLG were changed from sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type) to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Hereditary neuropathy or pain disorder v6.122 POLG Achchuthan Shanmugasundram Publications for gene: POLG were set to
Hereditary neuropathy or pain disorder v6.121 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 12975295, 15534189, 19752458, 25281868, 33791913, 36703500, 38975049
Hereditary neuropathy or pain disorder v6.121 POLG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: POLG.
Tag Q3_24_NHS_review tag was added to gene: POLG.
Hereditary neuropathy or pain disorder v6.121 POLG Achchuthan Shanmugasundram changed review comment from: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.

PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy.

PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).


; to: PMID:12975295 reported four unrelated patients with progressive external ophthalmoplegia (PEO) and with POLG variants. Of three patients with heterozygous variants, one had neuropathy and the only patient with compound heterozygous variants also had neuropathy.

PMID:15534189 reported a family with monoallelic missense variant in POLG gene and with progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism.

PMID:19752458 reported 26 patients from 23 families with cerebellar ataxia plus sensory neuropathy or external ophthalmoplegia. Of these 15 patients from 11 families were identified with POLG variants, of which four patients from two families had heterozygous variants and 11 patients from nine families had either homozygous or compound heterozygous variants.

PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.

PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy.

PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).

Both monoallelic and biallelic variants of this gene are associated with relevant phenotypes in OMIM and Gene2Phenotype (DD and eye panels) and OMIM records neuropathy as a clinical presentation of all but one phenotypes.
Hereditary neuropathy or pain disorder v6.121 TUBB3 Arina Puzriakova Publications for gene: TUBB3 were set to
Hereditary neuropathy or pain disorder v6.120 TUBB3 Arina Puzriakova Classified gene: TUBB3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.120 TUBB3 Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy has been reported >3 unrelated cases with CFEOM3A and one family with multiple mutant carriers had isolated peripheral neuropathy (PMID: 20074521). The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.120 TUBB3 Arina Puzriakova Gene: tubb3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.492 TUBB3 Arina Puzriakova Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; CFEOM3A; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638; CFEOM3A
Hereditary neuropathy or pain disorder v6.119 TUBB3 Arina Puzriakova Phenotypes for gene: TUBB3 were changed from CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES; CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638; CFEOM3A
Hereditary neuropathy or pain disorder v6.118 TUBB3 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TUBB3.
Tag Q3_24_NHS_review tag was added to gene: TUBB3.
Hereditary neuropathy or pain disorder v6.118 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 12975295, 25281868, 33791913, 36703500, 38975049; Changed phenotypes to: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459, Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640, Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Likely inborn error of metabolism v7.2 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Hereditary neuropathy v1.491 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Undiagnosed metabolic disorders v1.624 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Adult onset neurodegenerative disorder v7.2 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Hereditary ataxia v1.334 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Ataxia and cerebellar anomalies - narrow panel v7.4 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Hereditary neuropathy or pain disorder v6.118 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 25281868, 33791913, 36703500, 38975049; Changed phenotypes to: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459'
Primary ovarian insufficiency v1.69 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Perrault syndrome 5, 616138 to Perrault syndrome 5, OMIM:616138
Hereditary neuropathy or pain disorder v6.118 POLG Achchuthan Shanmugasundram changed review comment from: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.; to: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.

PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy.

PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).
Hereditary neuropathy or pain disorder v6.118 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)
Hereditary neuropathy or pain disorder v6.117 TWNK Arina Puzriakova Publications for gene: TWNK were set to
Hereditary neuropathy or pain disorder v6.116 TWNK Arina Puzriakova Classified gene: TWNK as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.116 TWNK Arina Puzriakova Added comment: Comment on list classification: TWNK is associated with multiple phenotypes that feature peripheral neuropathy (Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR); Perrault syndrome 5, OMIM:616138 (AR); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD)) - sufficient cases with dominant and recessive forms of disease to support the association.

The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.116 TWNK Arina Puzriakova Gene: twnk has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.115 TWNK Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TWNK.
Tag Q3_24_NHS_review tag was added to gene: TWNK.
Hereditary neuropathy or pain disorder v6.115 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25281868; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.115 XPA Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: XPA.
Tag Q3_24_NHS_review tag was added to gene: XPA.
Hereditary neuropathy or pain disorder v6.115 XPA Arina Puzriakova Publications for gene: XPA were set to 2168777
Hereditary neuropathy or pain disorder v6.114 XPA Arina Puzriakova Classified gene: XPA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.114 XPA Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy is a reported feature in at least 8 unrelated families with xeroderma pigmentosum. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.114 XPA Arina Puzriakova Gene: xpa has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.111 MRPL39 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: MRPL39.
Possible mitochondrial disorder - nuclear genes v3.111 MRPL39 Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v8.4
Possible mitochondrial disorder - nuclear genes v3.111 MRPL39 Achchuthan Shanmugasundram gene: MRPL39 was added
gene: MRPL39 was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature,Expert Review Amber
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: MRPL39.
Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL39 were set to 37133451
Phenotypes for gene: MRPL39 were set to Combined oxidative phosphorylation deficiency 59, OMIM:620646
Mitochondrial disorders v8.4 MRPL39 Achchuthan Shanmugasundram Classified gene: MRPL39 as Amber List (moderate evidence)
Mitochondrial disorders v8.4 MRPL39 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated patients reported to be presenting with multisystem diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into adulthood. Two of these patients with more severe infantile-onset disease were identified with compound heterozygous frameshift variants in MRPL39 gene, while the third patient with milder disease was homozygous for a missense variant. There is also functional evidence available from patient fibroblasts.

As there is sufficient evidence available for the association of this gene with mitochondrial disease, this gene should be recommended for promotion to green rating in the next GMS update.
Mitochondrial disorders v8.4 MRPL39 Achchuthan Shanmugasundram Gene: mrpl39 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v8.3 MRPL39 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620646), but not yet in Gene2Phenotype.
Mitochondrial disorders v8.3 MRPL39 Achchuthan Shanmugasundram Phenotypes for gene: MRPL39 were changed from Combined oxidative phosphorylation deficiency 59 to Combined oxidative phosphorylation deficiency 59, OMIM:620646
Mitochondrial disorders v8.2 MRPL39 Achchuthan Shanmugasundram Publications for gene: MRPL39 were set to 37133451
Mitochondrial disorders v8.2 MRPL39 Achchuthan Shanmugasundram Publications for gene: MRPL39 were set to PMID: 37133451
Mitochondrial disorders v8.1 MRPL39 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MRPL39.
Tag Q3_24_NHS_review tag was added to gene: MRPL39.
Mitochondrial disorders v8.1 MRPL39 Achchuthan Shanmugasundram reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: 37133451; Phenotypes: Combined oxidative phosphorylation deficiency 59, OMIM:620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.; to: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Deleted their comment
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Classified gene: SOX10 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.
Hereditary neuropathy or pain disorder v6.113 SOX10 Achchuthan Shanmugasundram Gene: sox10 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.112 SOX10 Achchuthan Shanmugasundram Classified gene: SOX10 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.112 SOX10 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (more than six unrelated cases) for the association of monoallelic SOX10 variants with demyelinating peripheral neuropathy. Hence, this gene can be promoted to green rating on the next GMS update.
Hereditary neuropathy or pain disorder v6.112 SOX10 Achchuthan Shanmugasundram Gene: sox10 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.111 SOX10 Achchuthan Shanmugasundram Phenotypes for gene: SOX10 were changed from Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease to PCWH syndrome, OMIM:609136
Hereditary neuropathy or pain disorder v6.110 SOX10 Achchuthan Shanmugasundram Publications for gene: SOX10 were set to 21898658
Hereditary neuropathy or pain disorder v6.109 SOX10 Achchuthan Shanmugasundram Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.108 SOX10 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX10.
Tag Q3_24_NHS_review tag was added to gene: SOX10.
Hereditary neuropathy or pain disorder v6.108 SOX10 Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 15004559, 29681101, 32150337; Phenotypes: PCWH syndrome, OMIM:609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.108 TTPA Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TTPA.
Tag Q3_24_NHS_review tag was added to gene: TTPA.
Hereditary neuropathy or pain disorder v6.108 TTPA Sarah Leigh reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.108 TTPA Sarah Leigh Phenotypes for gene: TTPA were changed from Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa to Ataxia with isolated vitamin E deficiency, OMIM:277460; familial isolated deficiency of vitamin E MONDO:0010188
Hereditary neuropathy or pain disorder v6.107 TTPA Sarah Leigh Publications for gene: TTPA were set to
Hereditary neuropathy or pain disorder v6.106 GLA Sarah Leigh Tag Q3_24_promote_green tag was added to gene: GLA.
Tag Q3_24_NHS_review tag was added to gene: GLA.
Hereditary neuropathy or pain disorder v6.106 GLA Sarah Leigh reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; 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)
Hereditary neuropathy or pain disorder v6.106 GLA Sarah Leigh Phenotypes for gene: GLA were changed from Cardiomyopathy to Fabry disease, OMIM:301500; Fabry disease, cardiac variant, OMIM:301500; Fabry disease, MONDO:0010526
Hereditary neuropathy or pain disorder v6.105 GLA Sarah Leigh Publications for gene: GLA were set to
Hereditary neuropathy or pain disorder v6.104 FLVCR1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FLVCR1.
Tag Q3_24_NHS_review tag was added to gene: FLVCR1.
Hereditary neuropathy or pain disorder v6.104 FLVCR1 Sarah Leigh reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v6.104 FLVCR1 Sarah Leigh Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Intellectual disability v8.13 SLC4A10 Cassandra Smith gene: SLC4A10 was added
gene: SLC4A10 was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 37459438; 38054405
Review for gene: SLC4A10 was set to GREEN
Added comment: More than 10 families with biallelic variants reported in SLC4A10, causing a neurodevelopmental disorder including intellectual disability.
Sources: Other
Hereditary neuropathy or pain disorder v6.103 FLVCR1 Sarah Leigh Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033; Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI to Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033
Hereditary neuropathy or pain disorder v6.102 FLVCR1 Sarah Leigh Publications for gene: FLVCR1 were set to 21070897
Hereditary neuropathy or pain disorder v6.101 FAM126A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FAM126A.
Tag Q3_24_NHS_review tag was added to gene: FAM126A.
Hereditary neuropathy or pain disorder v6.101 FAM126A Sarah Leigh reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.101 FAM126A Sarah Leigh Publications for gene: FAM126A were set to 16951682; 23998934; 21911699; 33531944; 22749724:
Hereditary neuropathy or pain disorder v6.100 AP1S1 Arina Puzriakova Publications for gene: AP1S1 were set to 19057675
Hereditary neuropathy or pain disorder v6.99 XPA Arina Puzriakova Phenotypes for gene: XPA were changed from Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700 to Xeroderma pigmentosum, group A, OMIM:278700; Sensory-motor axonal peripheral neuropathy
Bilateral congenital or childhood onset cataracts v6.4 ADD3 Eleanor Williams gene: ADD3 was added
gene: ADD3 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature
Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADD3 were set to 29768408
Phenotypes for gene: ADD3 were set to cataract, MONDO:0005129; Cataract, HP:0000518
Review for gene: ADD3 was set to RED
Added comment: PMID: 29768408 - Gonçalves et al 2018 reports 1 proband with childhood onset bilateral cataracts as part of a syndromic presentation including intellectual disability, microcephaly and skeletal defects. WES identified ADD3 compound heterozygous variants - c.86A>G, p.N29S; c.1588G>A, p.V530I (both on the same allele in the mother), c.995A>G, p.N332S (heterozygous in the father).

They also report an additional 3 siblings in another family with both ADD3 and KAT2B variants also presented with bilateral cataracts from early childhood along with further syndromic features of ID, skeletal defects, cardiac and renal abnormalities.
Sources: Literature
Hereditary neuropathy or pain disorder v6.98 PHYH Achchuthan Shanmugasundram Classified gene: PHYH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.98 PHYH Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, peripheral neuropathy is a part of Refsum disease (MIM #266500). OMIM record lists peripheral sensorimotor neuropathy as one of the clinical manifestations. In addition, PMID:20301527 reports that polyneuropathy is present in ~70% of cases with Refsum disease.

Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.98 PHYH Achchuthan Shanmugasundram Gene: phyh has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v6.3 KAT2B Eleanor Williams changed review comment from: 1 case with homozygous variants in KAT2B with 2 siblings treated for bilateral cataracts in early childhood, along with a renal phenotype. An additional case where 3 siblings had bilateral cataracts either from birth or in early childhood but were an additional potentially pathogenic variant was found in the ADD gene.

PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified.

PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only.
Sources: Literature; to: 1 case with homozygous variants in KAT2B with 2 siblings treated for bilateral cataracts in early childhood, along with a renal phenotype which develops later in childhood. An additional case where 3 siblings had bilateral cataracts either from birth or in early childhood but were an additional potentially pathogenic variant was found in the ADD gene.

PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified.

PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only.
Sources: Literature
Bilateral congenital or childhood onset cataracts v6.3 KAT2B Eleanor Williams Classified gene: KAT2B as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v6.3 KAT2B Eleanor Williams Added comment: Comment on list classification: Setting the rating as red, as only 1 case with cataracts and only KAT2B has been reported.
Bilateral congenital or childhood onset cataracts v6.3 KAT2B Eleanor Williams Gene: kat2b has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v6.2 KAT2B Eleanor Williams gene: KAT2B was added
gene: KAT2B was added to Bilateral congenital or childhood onset cataracts. Sources: Literature
Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KAT2B were set to 39366742; 29768408
Phenotypes for gene: KAT2B were set to cataract, MONDO:0005129; Cataract, HP:0000518
Review for gene: KAT2B was set to AMBER
Added comment: 1 case with homozygous variants in KAT2B with 2 siblings treated for bilateral cataracts in early childhood, along with a renal phenotype. An additional case where 3 siblings had bilateral cataracts either from birth or in early childhood but were an additional potentially pathogenic variant was found in the ADD gene.

PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified.

PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only.
Sources: Literature
Proteinuric renal disease v4.20 KAT2B Eleanor Williams Classified gene: KAT2B as Amber List (moderate evidence)
Proteinuric renal disease v4.20 KAT2B Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber based on 1 case plus a second supportive case (with an additional possible variant) and a Drosophila model.
Proteinuric renal disease v4.20 KAT2B Eleanor Williams Gene: kat2b has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.97 PHYH Achchuthan Shanmugasundram Phenotypes for gene: PHYH were changed from Hereditary Neuropathies to Refsum disease, OMIM:266500
Hereditary neuropathy or pain disorder v6.96 PHYH Achchuthan Shanmugasundram Publications for gene: PHYH were set to
Hereditary neuropathy or pain disorder v6.95 PHYH Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHYH.
Tag Q3_24_NHS_review tag was added to gene: PHYH.
Hereditary neuropathy or pain disorder v6.95 PHYH Achchuthan Shanmugasundram reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 2433405, 9326940, 10767344, 20301527; Phenotypes: Refsum disease, OMIM:266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v4.19 KAT2B Eleanor Williams Phenotypes for gene: KAT2B were changed from Steroid-resistant nephrotic syndrome to steroid-resistant nephrotic syndrome, MONDO:0044765
Proteinuric renal disease v4.18 KAT2B Eleanor Williams Publications for gene: KAT2B were set to PMID: 39366742
Proteinuric renal disease v4.17 KAT2B Eleanor Williams Mode of inheritance for gene: KAT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v4.16 KAT2B Eleanor Williams changed review comment from: 1 case reported of biallelic variants in KAT2B and steroid-resistant nephrotic syndrome. 2nd case with a similar phenotype but an additional variant ADD which may contribute to the patients phenotype.

PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified.

PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. In Drosophila KAT2B F307S mutants displayed both heart and renal defects will ADD mutants did not.; to: 1 case reported of biallelic variants in KAT2B and steroid-resistant nephrotic syndrome. 2nd case with a similar phenotype but an additional variant ADD which may contribute to the patients phenotype. Drosophila KAT2B mutant replicates the renal phenotype.

PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified.

PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. In Drosophila KAT2B F307S mutants displayed both heart and renal defects will ADD mutants did not.
Proteinuric renal disease v4.16 KAT2B Eleanor Williams reviewed gene: KAT2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 39366742, 29768408; Phenotypes: steroid-resistant nephrotic syndrome, MONDO:0044765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.95 HADHB Achchuthan Shanmugasundram Classified gene: HADHB as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.95 HADHB Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, mitochondrial trifunctional protein deficiency 2 (MIM #620300) includes peripheral neuropathy as one of the clinical manifestations. There are more than three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.95 HADHB Achchuthan Shanmugasundram Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.94 HADHB Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM: 620300
Hereditary neuropathy or pain disorder v6.93 HADHB Achchuthan Shanmugasundram Publications for gene: HADHB were set to
Hereditary neuropathy or pain disorder v6.92 HADHB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HADHB.
Tag Q3_24_NHS_review tag was added to gene: HADHB.
Hereditary neuropathy or pain disorder v6.92 HADHB Achchuthan Shanmugasundram reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24664533, 28685493, 28649548, 35235001, 37388542; Phenotypes: Mitochondrial trifunctional protein deficiency 2, OMIM: 620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.92 FAM126A Sarah Leigh Publications for gene: FAM126A were set to 16951682
Hereditary neuropathy or pain disorder v6.91 FAM126A Sarah Leigh Phenotypes for gene: FAM126A were changed from Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532 to Leukodystrophy, hypomyelinating, 5, OMIM:610532; hypomyelinating leukodystrophy 5, MONDO:0012514
Hereditary neuropathy or pain disorder v6.90 FAH Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FAH.
Tag Q3_24_NHS_review tag was added to gene: FAH.
Hereditary neuropathy or pain disorder v6.90 FAH Sarah Leigh reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.90 HADHA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HADHA.
Tag Q3_24_NHS_review tag was added to gene: HADHA.
Hereditary neuropathy or pain disorder v6.90 HADHA Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by by Alexander Rossor, mitochondrial trifunctional protein deficiency 1 (MIM #609015) includes peripheral neuropathy as one of the clinical manifestations. There are at least three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Alexander Rossor, mitochondrial trifunctional protein deficiency 1 (MIM #609015) includes peripheral neuropathy as one of the clinical manifestations. There are at least three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.90 FAH Sarah Leigh Phenotypes for gene: FAH were changed from Tyrosinemia, type I, OMIM:276700 to Tyrosinemia, type I, OMIM:276700; tyrosinemia type I, MONDO:0010161
Hereditary neuropathy or pain disorder v6.89 FAH Sarah Leigh Phenotypes for gene: FAH were changed from Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700
Hereditary neuropathy or pain disorder v6.88 HADHA Achchuthan Shanmugasundram Classified gene: HADHA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.88 HADHA Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by by Alexander Rossor, mitochondrial trifunctional protein deficiency 1 (MIM #609015) includes peripheral neuropathy as one of the clinical manifestations. There are at least three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.88 HADHA Achchuthan Shanmugasundram Gene: hadha has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.87 HADHA Achchuthan Shanmugasundram Publications for gene: HADHA were set to
Hereditary neuropathy or pain disorder v6.86 HADHA Achchuthan Shanmugasundram Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 1, OMIM:609015
Hereditary neuropathy or pain disorder v6.85 HADHA Achchuthan Shanmugasundram reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23868323, 32897397; Phenotypes: Mitochondrial trifunctional protein deficiency 1, OMIM:609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.85 FAH Sarah Leigh Publications for gene: FAH were set to
Early onset or syndromic epilepsy v7.3 PI4K2A Achchuthan Shanmugasundram Classified gene: PI4K2A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.3 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with a neurodevelopmental disorder. Of these, epilepsy was present in three unrelated cases. Hence, this gene should be promoted to green rating in the next GMS update.
Early onset or syndromic epilepsy v7.3 PI4K2A Achchuthan Shanmugasundram Gene: pi4k2a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.2 PI4K2A Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v7.2 PI4K2A Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with global developmental delay and/ or profound intellectual disability. Hence, this gene should be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with a neurodevelopmental disorder . Hence, this gene should be promoted to green rating in the next GMS update.
Early onset or syndromic epilepsy v7.2 PI4K2A Achchuthan Shanmugasundram Entity copied from Intellectual disability v8.13
Early onset or syndromic epilepsy v7.2 PI4K2A Achchuthan Shanmugasundram gene: PI4K2A was added
gene: PI4K2A was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,NHS GMS
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: PI4K2A.
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 32418222; 35880319
Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Penetrance for gene: PI4K2A were set to unknown
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Classified gene: PI4K2A as Amber List (moderate evidence)
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with global developmental delay and/ or profound intellectual disability. Hence, this gene should be promoted to green rating in the next GMS update.
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Gene: pi4k2a has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Classified gene: PI4K2A as Amber List (moderate evidence)
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with global developmental delay and/ or profound intellectual disability. Hence, this gene should be promoted to green rating in the next GMS update.
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Gene: pi4k2a has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.12 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620732), but not yet in Gene2Phenotype.
Intellectual disability v8.12 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.11 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.11 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.10 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Intellectual disability; developmental delay; seizures to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.10 PI4K2A Achchuthan Shanmugasundram Publications for gene: PI4K2A were set to 30564627; 32418222'
Intellectual disability v8.10 PI4K2A Achchuthan Shanmugasundram Publications for gene: PI4K2A were set to 30564627; 35880319; 32418222
Intellectual disability v8.9 PI4K2A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PI4K2A.
Tag Q3_24_NHS_review tag was added to gene: PI4K2A.
Intellectual disability v8.9 PI4K2A Achchuthan Shanmugasundram reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.84 SLC13A3 Achchuthan Shanmugasundram Phenotypes for gene: SLC13A3 were changed from acute neuropathy to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Hereditary neuropathy or pain disorder v6.83 SLC13A3 Achchuthan Shanmugasundram edited their review of gene: SLC13A3: Changed phenotypes to: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Hereditary neuropathy or pain disorder v6.83 SLC13A3 Achchuthan Shanmugasundram Classified gene: SLC13A3 as Red List (low evidence)
Hereditary neuropathy or pain disorder v6.83 SLC13A3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is only case reported with neuropathy. Hence, this gene should be rated red with current evidence.
Hereditary neuropathy or pain disorder v6.83 SLC13A3 Achchuthan Shanmugasundram Gene: slc13a3 has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v6.82 SLC13A3 Achchuthan Shanmugasundram reviewed gene: SLC13A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.9 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 (SPG15) to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary neuropathy or pain disorder v6.82 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary ataxia with onset in adulthood v7.2 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Autosomal recessive spastic paraplegia 15, 270700; Autosomal recessive spastic paraplegia 15, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary neuropathy v1.490 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700; Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Adult onset hereditary spastic paraplegia v5.3 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Childhood onset hereditary spastic paraplegia v7.2 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary spastic paraplegia v1.312 ZFYVE26 Arina Puzriakova Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive to Spastic paraplegia 15, autosomal recessive, OMIM:270700
Hereditary neuropathy or pain disorder v6.81 ZFYVE26 Arina Puzriakova Publications for gene: ZFYVE26 were set to
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track new evidence.; to: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track of new evidence.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence)
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Added comment: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track new evidence.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence)
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Added comment: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track new evidence.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.7 KIF5B Achchuthan Shanmugasundram Tag watchlist tag was added to gene: KIF5B.
Intellectual disability v8.7 KIF5B Achchuthan Shanmugasundram Phenotypes for gene: KIF5B were changed from kyphomelic dysplasia; hypotonia; developmental delay; intellectual disability to kyphomelic dysplasia, MONDO:0008881; intellectual disability, MONDO:0001071
Intellectual disability v8.6 KIF5B Achchuthan Shanmugasundram changed review comment from: As reviewed by Tracy Lester, there are a total of seven patients reported with missense variants in KIF5B gene from PMIDs: 35342932 and 36018820. Four of these seven patients presented with intellectual disability (two each from the two studies).

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.; to: As reviewed by Tracy Lester, there are a total of seven patients reported with missense variants in KIF5B gene from PMIDs: 35342932 and 36018820. Four of these seven patients presented with intellectual disability (two each from the two studies). PMID:36018820 reported the severity of ID as severe for one patient and mild for another, while severity was not recoded in PMID:35342932.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.
Hereditary neuropathy or pain disorder v6.80 ZFYVE26 Arina Puzriakova Classified gene: ZFYVE26 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.80 ZFYVE26 Arina Puzriakova Added comment: Comment on list classification: Peripheral neuropathy is a reported feature in at least 5 unrelated families with SPG15. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.80 ZFYVE26 Arina Puzriakova Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.6 KIF5B Achchuthan Shanmugasundram reviewed gene: KIF5B: Rating: AMBER; Mode of pathogenicity: None; Publications: 35342932, 36018820; Phenotypes: kyphomelic dysplasia, MONDO:0008881, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.79 ZFYVE26 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: ZFYVE26.
Tag Q3_24_NHS_review tag was added to gene: ZFYVE26.
Hereditary neuropathy or pain disorder v6.79 SAMD9L Eleanor Williams Classified gene: SAMD9L as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.79 SAMD9L Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review.
Hereditary neuropathy or pain disorder v6.79 SAMD9L Eleanor Williams Gene: samd9l has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.78 SAMD9L Eleanor Williams Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia
Hereditary neuropathy or pain disorder v6.77 SAMD9L Eleanor Williams Phenotypes for gene: SAMD9L were changed from 32808377: 36553623 : 31053103: 27259050: 28202457 to Ataxia-pancytopenia syndrome, OMIM:159550; ataxia-pancytopenia syndrome, MONDO:0008038
Hereditary neuropathy or pain disorder v6.76 SAMD9L Eleanor Williams Mode of pathogenicity for gene: SAMD9L was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary neuropathy or pain disorder v6.75 SAMD9L Eleanor Williams Tag missense tag was added to gene: SAMD9L.
Tag mosaicism tag was added to gene: SAMD9L.
Tag Q3_24_promote_green tag was added to gene: SAMD9L.
Tag Q3_24_NHS_review tag was added to gene: SAMD9L.
Hereditary neuropathy or pain disorder v6.75 SAMD9L Eleanor Williams edited their review of gene: SAMD9L: Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 32808377, 36553623, 31053103, 27259050, 28202457; Changed phenotypes to: Ataxia-pancytopenia syndrome, OMIM:159550, ataxia-pancytopenia syndrome, MONDO:0008038; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v6.75 SAMD9L Eleanor Williams commented on gene: SAMD9L
Hereditary neuropathy or pain disorder v6.75 ETFDH Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ETFDH.
Tag Q3_24_NHS_review tag was added to gene: ETFDH.
Hereditary neuropathy or pain disorder v6.75 ETFDH Sarah Leigh reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.75 ETFDH Sarah Leigh Publications for gene: ETFDH were set to 32608139; 26821934; 0587156
Hereditary neuropathy or pain disorder v6.74 ETFDH Sarah Leigh Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, 231680; Neonatal and late onset forms. hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occur. Riboflavin responsive to Glutaric acidemia IIC, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Hereditary neuropathy or pain disorder v6.73 ETFDH Sarah Leigh Publications for gene: ETFDH were set to
Hereditary neuropathy or pain disorder v6.72 ERCC8 Sarah Leigh Publications for gene: ERCC8 were set to 7664335; 9338586; 21108394; 14661080; 15744458; 25453614
Hereditary neuropathy or pain disorder v6.71 ERCC8 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ERCC8.
Tag Q3_24_NHS_review tag was added to gene: ERCC8.
Hereditary neuropathy or pain disorder v6.71 ERCC8 Sarah Leigh reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v6.71 ERCC8 Sarah Leigh Phenotypes for gene: ERCC8 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type A, 216400 to Cockayne syndrome, type A, OMIM:216400; Cockayne syndrome type 1, MONDO:0019569
Hereditary neuropathy or pain disorder v6.70 ERCC8 Sarah Leigh Publications for gene: ERCC8 were set to 25453614
Hereditary neuropathy or pain disorder v6.69 ERCC8 Sarah Leigh Publications for gene: ERCC8 were set to
Hereditary neuropathy or pain disorder v6.68 ERCC6 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ERCC6.
Tag Q3_24_NHS_review tag was added to gene: ERCC6.
Hereditary neuropathy or pain disorder v6.68 ERCC6 Sarah Leigh reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.68 ERCC6 Sarah Leigh Publications for gene: ERCC6 were set to 25453614
Hereditary neuropathy or pain disorder v6.67 ERCC6 Sarah Leigh Publications for gene: ERCC6 were set to
Hereditary neuropathy or pain disorder v6.66 TBCE Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the association of this gene with neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.66 TBCE Achchuthan Shanmugasundram changed review comment from: PMID:27666369 reported six individuals from four apparently unrelated families originating from the same geographical area in Italy near Naples with a similar infantile-onset neurodegenerative disorder. They were either identified with the same homozygous p.Ile155Asn variant (five patients from three families) or with a compound heterozygous variant involving the same variant with another variant (p.Leu360Ter) in one patient. There is also functional evidence available.

This gene has been associated with relevant phenotypes in OMIM (MIM #617207) and Gene2Phenotype (with 'strong' rating on the DD panel). MIM #617207 records axonal peripheral neuropathy as one of the clinical manifestations.; to: PMID:27666369 reported six individuals from four apparently unrelated families originating from the same geographical area in Italy near Naples with a similar infantile-onset neurodegenerative disorder. They were either identified with the same homozygous p.Ile155Asn variant (five patients from three families) or with a compound heterozygous variant involving the same variant with another variant (p.Leu360Ter) in one patient. Electrophysiologic and electromyographic studies in all patients were consistent with a motor neuropathy. There is also functional evidence available.

This gene has been associated with relevant phenotypes in OMIM (MIM #617207) and Gene2Phenotype (with 'strong' rating on the DD panel). MIM #617207 records axonal peripheral neuropathy as one of the clinical manifestations.
Hereditary neuropathy or pain disorder v6.66 ERCC6 Sarah Leigh Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540 to Cockayne syndrome, type B, OMIM:133540; Cockayne syndrome type 2, MONDO:0019570
Intellectual disability v8.6 PI4K2A Tracy Lester gene: PI4K2A was added
gene: PI4K2A was added to Intellectual disability. Sources: NHS GMS
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 32418222
Phenotypes for gene: PI4K2A were set to Intellectual disability; developmental delay; seizures
Penetrance for gene: PI4K2A were set to unknown
Review for gene: PI4K2A was set to GREEN
Added comment: At least three cases have been reported with biallelic variants in this gene and a neurodevelopmental disorder
35880319 - Two patients with PI4K2A deficiency (homozygous variants) were identified by exome sequencing, presenting with developmental and epileptic-dyskinetic encephalopathy. Neuroimaging showed corpus callosum dysgenesis, diffuse white matter volume loss, and hypoplastic vermis. In addition to NDD, we observed recurrent infections and death at toddler age.
30564627 - We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of PI4K2A that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings.
32418222 - a homozygous missense variant of uncertain significance was suggested to be responsible for some features in a case with NDD and metabolic cutis laxa.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v6.65 TBCE Achchuthan Shanmugasundram Classified gene: TBCE as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.65 TBCE Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.65 TBCE Achchuthan Shanmugasundram Gene: tbce has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.64 TBCE Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TBCE.
Tag Q3_24_NHS_review tag was added to gene: TBCE.
Hereditary neuropathy or pain disorder v6.64 TBCE Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.64 PNPT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are four unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.64 PNPT1 Achchuthan Shanmugasundram changed review comment from: PMID:14705117 reported a large family from Southeastern France with spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had onset in childhood. Cerebellar ataxia was always present and many patients had peripheral sensory neuropathy.

PMID:35411967 reported the identification of heterozygous splice site variants in PNPT1 in the above reported family from Southeastern France and from a 3-generation Australian family with spinocerebellar ataxia and sensory neuropathy reported in this study. All patients from the Australian family for whom information was available had an axonal sensory neuropathy with diminished or absent limb reflexes and decreased sensation. A 40-year-old French patient was also reported with heterozygous frameshift PNPT1 variant, who had onset of deafness shortly after birth and onset of gait ataxia at 23 years of age. He also had sensory neuropathy.

This gene has been associated with relevant phenotypes in OMIM (MIM #608703), which records sensory neuropathy/ axonal sensory neuropathy as clinical manifestations of the phenotype.; to: PMID:14705117 reported a large family from Southeastern France with spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had onset in childhood. Cerebellar ataxia was always present and many patients had peripheral sensory neuropathy.

PMID:35411967 reported the identification of heterozygous splice site variants in PNPT1 in the above reported family from Southeastern France and from a 3-generation Australian family with spinocerebellar ataxia and sensory neuropathy reported in this study. All patients from the Australian family for whom information was available had an axonal sensory neuropathy with diminished or absent limb reflexes and decreased sensation. There was evidence of incomplete penetrance in the Australian family, as two carriers in this family had sensory neuropathy without ataxia or cerebellar atrophy in their thirties. A 40-year-old French patient was also reported with heterozygous frameshift PNPT1 variant, who had onset of deafness shortly after birth and onset of gait ataxia at 23 years of age. He also had sensory neuropathy. This patient inherited the variant from an asymptomatic 80+ years old father.

PMID:37935417 reported the identification of a novel PNPT1 variant in a 3-year-old child with spinocerebellar ataxia. The child had cerebellar atrophy and psychomotor delay. At a follow up at 6 years of age, the symptoms had worsened and also presented with axonal sensory neuropathy.

Monoallelic variants in this gene have been associated with relevant phenotype in OMIM (MIM #608703), which records sensory neuropathy/ axonal sensory neuropathy as clinical manifestations of the phenotype.
Hereditary neuropathy or pain disorder v6.64 DSTYK Sarah Leigh Added comment: Comment on phenotypes: Monoallelic DSTYK variants are associated with Congenital anomalies of kidney and urinary tract 1 (OMIM:610805).
Hereditary neuropathy or pain disorder v6.64 DSTYK Sarah Leigh Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046
Hereditary neuropathy or pain disorder v6.63 DSTYK Sarah Leigh Tag founder-effect tag was added to gene: DSTYK.
Hereditary neuropathy or pain disorder v6.63 PNPT1 Achchuthan Shanmugasundram edited their review of gene: PNPT1: Changed publications to: 14705117, 35411967, 37935417
Hereditary neuropathy or pain disorder v6.63 DSTYK Sarah Leigh Classified gene: DSTYK as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.63 DSTYK Sarah Leigh Gene: dstyk has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.62 DSTYK Sarah Leigh edited their review of gene: DSTYK: Added comment: Two DSTYK variants (as compound heterozygotes) have been associated with Spastic paraplegia 23, autosomal recessive (OMIM:270750) in 3 unrelated families of Middle Eastern origin. This combination of variants in the reported families was revealed to be founder effect by haplotype analysis (PMID: 28157540).; Changed rating: AMBER; Changed publications to: 28157540; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v7.3 PNPT1 Achchuthan Shanmugasundram Classified gene: PNPT1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v7.3 PNPT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases with spinocerebellar ataxia 25 (MIM # 608703), although there is evidence of incomplete penetrance in one of them. There is also functional studies available in support of the association. Hence, this gene can be promoted to green rating in the next GMS update.
Ataxia and cerebellar anomalies - narrow panel v7.3 PNPT1 Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v7.2 PNPT1 Achchuthan Shanmugasundram gene: PNPT1 was added
gene: PNPT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Q3_24_promote_green tags were added to gene: PNPT1.
Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNPT1 were set to 14705117; 35411967; 37935417
Phenotypes for gene: PNPT1 were set to Spinocerebellar ataxia 25, OMIM:608703
Review for gene: PNPT1 was set to GREEN
Added comment: PMID:14705117 reported a large family from Southeastern France with spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had onset in childhood. Cerebellar ataxia was always present and many patients had peripheral sensory neuropathy.

PMID:35411967 reported the identification of heterozygous splice site variants in PNPT1 in the above reported family from Southeastern France and from a 3-generation Australian family with spinocerebellar ataxia and sensory neuropathy reported in this study. There was evidence of incomplete penetrance in the Australian family, as two carriers in this family had sensory neuropathy without ataxia or cerebellar atrophy in their thirties. A 40-year-old French patient was also reported with heterozygous frameshift PNPT1 variant, who had onset of deafness shortly after birth and onset of gait ataxia at 23 years of age. This patient inherited the variant from an asymptomatic 80+ years old father.

PMID:37935417 reported the identification of a novel PNPT1 variant in a 3-year-old child with spinocerebellar ataxia. The child had cerebellar atrophy and psychomotor delay. At a follow up at 6 years of age, the symptoms had worsened and also presented with axonal sensory neuropathy.

Monoallelic variants in this gene have been associated with relevant phenotypes in OMIM (MIM #608703), but not in Gene2Phenotype.
Sources: Literature
Hereditary neuropathy or pain disorder v6.62 DSTYK Sarah Leigh Added comment: Comment on phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
Hereditary neuropathy or pain disorder v6.62 DSTYK Sarah Leigh Phenotypes for gene: DSTYK were changed from Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046
Hereditary neuropathy or pain disorder v6.61 DMXL2 Sarah Leigh Added comment: Comment on phenotypes: Three brothers from a single family with Polyendocrine-polyneuropathy syndrome, OMIM:616113;polyendocrine-polyneuropathy syndrome MONDO:0014497, were homozygous for a DMXL2 variant (PMID: 25248098). Segregation between the variants and the condition was also reported in this study.
Hereditary neuropathy or pain disorder v6.61 DMXL2 Sarah Leigh Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858 to Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858
Hereditary neuropathy or pain disorder v6.60 DMXL2 Sarah Leigh reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v6.60 PNPT1 Achchuthan Shanmugasundram Classified gene: PNPT1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.60 PNPT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.60 PNPT1 Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.59 PNPT1 Achchuthan Shanmugasundram Phenotypes for gene: PNPT1 were changed from ataxia; peripheral neuropathy to Spinocerebellar ataxia 25, OMIM:608703
Hereditary neuropathy or pain disorder v6.58 PNPT1 Achchuthan Shanmugasundram Publications for gene: PNPT1 were set to 35411967: 14705117
Hereditary neuropathy or pain disorder v6.57 PNPT1 Achchuthan Shanmugasundram Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.56 PNPT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PNPT1.
Tag Q3_24_NHS_review tag was added to gene: PNPT1.
Hereditary neuropathy or pain disorder v6.56 PNPT1 Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14705117, 35411967; Phenotypes: Spinocerebellar ataxia 25, OMIM:608703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.56 DMXL2 Sarah Leigh Publications for gene: DMXL2 were set to 31688942
Hereditary neuropathy or pain disorder v6.55 NFASC Achchuthan Shanmugasundram Classified gene: NFASC as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.55 NFASC Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases with syndromic neuropathy. Hence, this gene can be recommended for promotion to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.55 NFASC Achchuthan Shanmugasundram Gene: nfasc has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.54 NFASC Achchuthan Shanmugasundram Phenotypes for gene: NFASC were changed from Developmental delay; peripheral neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
Hereditary neuropathy or pain disorder v6.53 NFASC Achchuthan Shanmugasundram Publications for gene: NFASC were set to 30850329: 30124836
Hereditary neuropathy or pain disorder v6.52 NFASC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFASC.
Tag Q3_24_NHS_review tag was added to gene: NFASC.
Hereditary neuropathy or pain disorder v6.52 NFASC Achchuthan Shanmugasundram commented on gene: NFASC: PMID:30850329 reported the identification of a homozygous NFASC variant (p.Val1122Glu) in two siblings from an Italian family. The patients presented with early-onset cerebellar ataxia and demyelinating neuropathy.

PMID:31501903 reported the identification of one frameshift and four different homozygous non-synonymous variants in NFASC gene in ten individuals from six unrelated families. They presented with a neurodevelopmental disorder characterised with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement. Neuropathy was reported in at least three patients from two different families.

This gene has been associated with relevant phenotype in OMIM (MIM #618356), which lists demyelinating sensorimotor polyneuropathy as one of the clinical manifestations observed in some of the patients.
Hereditary neuropathy or pain disorder v6.52 DMXL2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DMXL2.
Tag Q3_24_NHS_review tag was added to gene: DMXL2.
Hereditary neuropathy or pain disorder v6.52 DMXL2 Sarah Leigh Phenotypes for gene: DMXL2 were changed from developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858
Hereditary neuropathy or pain disorder v6.51 AP1S1 Arina Puzriakova Classified gene: AP1S1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.51 AP1S1 Arina Puzriakova Added comment: Comment on list classification: Neuropathy in adulthood is a feature of MEDNIK syndrome. >3 unrelated cases have been reported. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.51 AP1S1 Arina Puzriakova Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.50 DMXL2 Sarah Leigh Classified gene: DMXL2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.50 DMXL2 Sarah Leigh Gene: dmxl2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.49 DHH Sarah Leigh Classified gene: DHH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.49 DHH Sarah Leigh Gene: dhh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DHH.
Tag Q3_24_NHS_review tag was added to gene: DHH.
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh edited their review of gene: DHH: Added comment: DHH variants have been associated with 46XY gonadal dysgenesis with minifascicular neuropathy (OMIM:607080). At least five DHH variants have been associated with in five unrelated cases of OMIM:607080.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh Added comment: Comment on phenotypes: DHH variants are also associated with 46XY sex reversal 7 (OMIM:233420). Neuropathy does not appear to be associated with this condition.
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh Phenotypes for gene: DHH were changed from to 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
Hereditary neuropathy or pain disorder v6.47 AP1S1 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: AP1S1.
Hereditary neuropathy or pain disorder v6.47 AP1S1 Arina Puzriakova Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK syndrome, OMIM:609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary neuropathy or pain disorder v6.46 DHH Sarah Leigh Publications for gene: DHH were set to
Hereditary neuropathy or pain disorder v6.45 DHH Sarah Leigh Mode of inheritance for gene: DHH was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.44 DARS2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DARS2.
Tag Q3_24_NHS_review tag was added to gene: DARS2.
Hereditary neuropathy or pain disorder v6.44 DARS2 Sarah Leigh edited their review of gene: DARS2: Added comment: DARS2 variants have been associated with Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 and as strong G2P gene for the same condition. At numerous DARS2 variants have been reported in cases of OMIM:611105 (PMID: 28334938;38790244;22677571;38549004).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.44 DARS2 Sarah Leigh Publications for gene: DARS2 were set to 28334938
Hereditary neuropathy or pain disorder v6.43 DARS2 Sarah Leigh Added comment: Comment on phenotypes: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary neuropathy or pain disorder v6.43 DARS2 Sarah Leigh Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105; leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0012622
Hereditary neuropathy or pain disorder v6.42 CYP2U1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CYP2U1.
Tag Q3_24_NHS_review tag was added to gene: CYP2U1.
Hereditary neuropathy or pain disorder v6.42 CYP2U1 Sarah Leigh reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.42 CYP2U1 Sarah Leigh Publications for gene: CYP2U1 were set to 23176821; 33107650
Hereditary neuropathy or pain disorder v6.41 CYP2U1 Sarah Leigh Phenotypes for gene: CYP2U1 were changed from spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy to Spastic paraplegia 56, autosomal recessive, OMIM:615030; hereditary spastic paraplegia 56, MONDO:0014015
Hereditary neuropathy or pain disorder v6.40 CYP2U1 Sarah Leigh Publications for gene: CYP2U1 were set to 23176821
Early onset or syndromic epilepsy v7.1 SLC13A3 Cassandra Smith gene: SLC13A3 was added
gene: SLC13A3 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to 38235040; 34966709; 30635937
Review for gene: SLC13A3 was set to GREEN
Added comment: Febrile seizures reported in >3 families with biallelic variants in SLC13A3
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 TET2 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: TET2.
Tag Q3_24_NHS_review tag was added to gene: TET2.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 TET2 Arina Puzriakova Classified gene: TET2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 TET2 Arina Puzriakova Added comment: Comment on list classification: Total of at least 4 unrelated cases reported to date with an immune dysregulation syndrome and lymphoproliferation (PMIDs: 32518946; 36066697). Sufficient to promote this gene to green with biallelic MOI (3 cases) but not monoallelic (1 case) - possible that in trans variant was missed or the heterozygous variant in LRBA additionally detected in this individual acted as a phenotype-modifier.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 TET2 Arina Puzriakova Gene: tet2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.39 CYP2U1 Sarah Leigh Classified gene: CYP2U1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.39 CYP2U1 Sarah Leigh Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.38 CTDP1 Sarah Leigh Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402
Hereditary neuropathy or pain disorder v6.37 NFASC Achchuthan Shanmugasundram reviewed gene: NFASC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30850329, 31501903; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.37 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Hereditary neuropathy or pain disorder v6.36 CNTNAP1 Sarah Leigh Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to neuropathy, congenital hypomyelinating, 3, MONDO:0020766; Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Hereditary neuropathy or pain disorder v6.35 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from pontocerbeelar hypoplasia, peripheral neuropathy to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Hereditary neuropathy or pain disorder v6.34 CD59 Sarah Leigh Phenotypes for gene: CD59 were changed from Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy; Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300; primary CD59 deficiency, MONDO:0012858
Hereditary neuropathy or pain disorder v6.33 CAPN1 Sarah Leigh Phenotypes for gene: CAPN1 were changed from spasticity; pes cavus; peripheral neuropathy to autosomal recessive spastic paraplegia type 76, MONDO:0014827; Spastic paraplegia 76, autosomal recessive, OMIM:616907
Hereditary neuropathy or pain disorder v6.32 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from spastic paraplegia; cognitive impairment; peripheral neuropathy to Spastic paraplegia 78, autosomal recessive, OMIM:617225; Kufor-Rakeb syndrome, OMIM:606693; Kufor-Rakeb syndrome, MONDO:0011706; autosomal recessive spastic paraplegia type 78, MONDO:0014975
Hereditary neuropathy or pain disorder v6.31 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, OMIM:208900; Hereditary Neuropathies to Ataxia-telangiectasia, OMIM:208900
Hereditary neuropathy or pain disorder v6.30 ATL3 Sarah Leigh Phenotypes for gene: ATL3 were changed from to Neuropathy, hereditary sensory, type IF, OMIM:615632; neuropathy, hereditary sensory, type 1F, MONDO:0014286
Hereditary neuropathy or pain disorder v6.29 ATAD3A Sarah Leigh Phenotypes for gene: ATAD3A were changed from global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958
Primary immunodeficiency or monogenic inflammatory bowel disease v7.3 TET2 Arina Puzriakova Publications for gene: TET2 were set to 32518946
Hereditary neuropathy or pain disorder v6.28 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Progressive myoclonic epilepsy; motor neuropathy to spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045; Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Hereditary neuropathy or pain disorder v6.27 ABCD1 Sarah Leigh Phenotypes for gene: ABCD1 were changed from adreno leukodystrophy; adrenomyeloneuropathy to Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544
Hereditary neuropathy or pain disorder v6.26 AP5Z1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AP5Z1.
Tag Q3_24_NHS_review tag was added to gene: AP5Z1.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.2 TET2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (Immunodeficiency 75, OMIM:619126)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.2 TET2 Arina Puzriakova Phenotypes for gene: TET2 were changed from Primary Immunodeficiency; Lymphoma; Hepatosplenomegaly; Autoimmunity; Developmental delay to Immunodeficiency 75, OMIM:619126
Hereditary neuropathy or pain disorder v6.26 ARL6IP1 Sarah Leigh Classified gene: ARL6IP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.26 ARL6IP1 Sarah Leigh Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.25 ARL6IP1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARL6IP1.
Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.
Hereditary neuropathy or pain disorder v6.25 ASAH1 Sarah Leigh Classified gene: ASAH1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.25 ASAH1 Sarah Leigh Gene: asah1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.24 ASAH1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ASAH1.
Tag Q3_24_NHS_review tag was added to gene: ASAH1.
Hereditary neuropathy or pain disorder v6.24 ATAD3A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATAD3A.
Tag Q3_24_NHS_review tag was added to gene: ATAD3A.
Hereditary neuropathy or pain disorder v6.24 ATAD3A Sarah Leigh Classified gene: ATAD3A as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.24 ATAD3A Sarah Leigh Gene: atad3a has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.23 ATM Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATM.
Tag Q3_24_NHS_review tag was added to gene: ATM.
Hereditary neuropathy or pain disorder v6.23 ATL3 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATL3.
Tag Q3_24_NHS_review tag was added to gene: ATL3.
Hereditary neuropathy or pain disorder v6.23 ATP13A2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATP13A2.
Tag Q3_24_NHS_review tag was added to gene: ATP13A2.
Hereditary neuropathy or pain disorder v6.23 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.23 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.22 BAG3 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: BAG3.
Tag Q3_24_NHS_review tag was added to gene: BAG3.
Hereditary neuropathy or pain disorder v6.22 C12orf65 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: C12orf65.
Tag Q3_24_NHS_review tag was added to gene: C12orf65.
Hereditary neuropathy or pain disorder v6.22 CAPN1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CAPN1.
Tag Q3_24_NHS_review tag was added to gene: CAPN1.
Hereditary neuropathy or pain disorder v6.22 CAPN1 Sarah Leigh Classified gene: CAPN1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.22 CAPN1 Sarah Leigh Gene: capn1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.21 CLP1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CLP1.
Tag Q3_24_NHS_review tag was added to gene: CLP1.
Hereditary neuropathy or pain disorder v6.21 CLP1 Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.21 CLP1 Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.20 CD59 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CD59.
Tag Q3_24_NHS_review tag was added to gene: CD59.
Hereditary neuropathy or pain disorder v6.20 CNTNAP1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CNTNAP1.
Tag Q3_24_NHS_review tag was added to gene: CNTNAP1.
Hereditary neuropathy or pain disorder v6.20 COA7 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: COA7.
Tag Q3_24_NHS_review tag was added to gene: COA7.
Hereditary neuropathy or pain disorder v6.20 CTDP1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CTDP1.
Tag Q3_24_NHS_review tag was added to gene: CTDP1.
Hereditary neuropathy or pain disorder v6.20 CTDP1 Sarah Leigh reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322984, 20301787, 10439962, 29174527, 14517542, 16194727, 24690360, 21824574, 23408394; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, congenital cataracts-facial dysmorphism-neuropathy syndrome, MONDO:0011402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 COA7 Sarah Leigh reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 CNTNAP1 Sarah Leigh reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27668699, 28374019, 27818385, 27782105, 29511323; Phenotypes: neuropathy, congenital hypomyelinating, 3, MONDO:0020766, Hypomyelinating neuropathy, congenital, 3, OMIM:618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 CD59 Sarah Leigh reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: 23149847, 1382994, 24382084; Phenotypes: Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, OMIM:612300, primary CD59 deficiency, MONDO:0012858; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24766810, 23474986, 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 CAPN1 Sarah Leigh reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23741357, 27153400; Phenotypes: autosomal recessive spastic paraplegia type 76, MONDO:0014827, Spastic paraplegia 76, autosomal recessive, OMIM:616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 C12orf65 Sarah Leigh reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 24198383, 23188110, 24424123, 24080142; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 BAG3 Sarah Leigh reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37989284, 30145633, 37907725, 25208129; Phenotypes: Myopathy, myofibrillar, 6, OMIM:612954, myofibrillar myopathy 6, MONDO:0013061, dilated cardiomyopathy 1HH, MONDO:0013479, Cardiomyopathy, dilated, 1HH, OMIM:613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v6.20 ATP13A2 Sarah Leigh reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28137957, 27217339, 22296644; Phenotypes: Spastic paraplegia 78, autosomal recessive, OMIM:617225, Kufor-Rakeb syndrome, OMIM:606693, Kufor-Rakeb syndrome, MONDO:0011706, autosomal recessive spastic paraplegia type 78, MONDO:0014975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 ATL3 Sarah Leigh reviewed gene: ATL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24736309, 24459106, 30680846; Phenotypes: Neuropathy, hereditary sensory, type IF, OMIM:615632, neuropathy, hereditary sensory, type 1F, MONDO:0014286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.20 ATM Sarah Leigh reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 37540892; Phenotypes: Ataxia-telangiectasia, OMIM:208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 ATAD3A Sarah Leigh reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27640307; Phenotypes: Harel-Yoon syndrome, OMIM:617183, Harel-Yoon syndrome, MONDO:0014958; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 ASAH1 Sarah Leigh reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 534421, 22703880; Phenotypes: spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045, Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 ARL6IP1 Sarah Leigh reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28471035, 31272422, 33188530, 30237576, 24482476, 30980493; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685, hereditary spastic paraplegia 61, MONDO:0014304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.20 AP5Z1 Sarah Leigh reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20613862: 24833714; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v7.4 COL4A3 Arina Puzriakova Tag watchlist tag was added to gene: COL4A3.
Cystic kidney disease v7.4 COL4A3 Arina Puzriakova Classified gene: COL4A3 as Amber List (moderate evidence)
Cystic kidney disease v7.4 COL4A3 Arina Puzriakova Added comment: Comment on list classification: There is some evidence that shows some patients with COL4A3-related Alport syndrome have multicystic kidney disease (MKD).

PMID: 38178635 - Bada-Bosch et al 2024 - at least 8 unrelated individuals with heterozygous LP/P variants in the COL4A3 and MKD.

However, a substantial proportion of AD Alport Syndrome patients maintain normal kidney function throughout life and the factors underlying the development of kidney disease remain incompletely understood.

Rating Amber given that inclusion of other Alport genes COL4A4/5 on this panel was rejected on GMS expert review but monitoring of this association should be continued (added watchlist tag).
Cystic kidney disease v7.4 COL4A3 Arina Puzriakova Gene: col4a3 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v7.3 COL4A5 Arina Puzriakova Publications for gene: COL4A5 were set to 31922066
Cystic kidney disease v7.2 COL4A4 Arina Puzriakova Publications for gene: COL4A4 were set to 31922066
Cystic kidney disease v7.1 CYP24A1 John Sayer gene: CYP24A1 was added
gene: CYP24A1 was added to Cystic kidney disease. Sources: Expert list
Mode of inheritance for gene: CYP24A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP24A1 were set to 34307984; 22337913; 27105398; 28324001
Phenotypes for gene: CYP24A1 were set to cystic kidney disease; nephrocalcinosis; hypercalcaemia
Penetrance for gene: CYP24A1 were set to Complete
Review for gene: CYP24A1 was set to GREEN
Added comment: Can give cystic kidney disease (mild, atypical) but useful to be added to R193 panel
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v7.1 IL7 Cassandra Smith gene: IL7 was added
gene: IL7 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL7 were set to 39352394
Added comment: 4 families with biallelic LOF variants and immune deficiency. 2 families share the same variant on the same haplotype, still leaving three unrelated families.

Functional study investigates impact on immune system cells.

No biallelic pLOF variants in gnomAD.
Sources: Literature
COVID-19 research v1.142 IL7 Cassandra Smith Deleted their review
COVID-19 research v1.142 IL7 Cassandra Smith Deleted their comment
COVID-19 research v1.142 IL7 Cassandra Smith reviewed gene: IL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39352394; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.6 PLA2G16 Eleanor Williams Tag Q3_24_promote_green was removed from gene: PLA2G16.
Tag Q3_24_NHS_review was removed from gene: PLA2G16.
Intellectual disability v8.6 PLA2G16 Eleanor Williams Classified gene: PLA2G16 as Amber List (moderate evidence)
Intellectual disability v8.6 PLA2G16 Eleanor Williams Added comment: Comment on list classification: Rating as amber. 3 cases with intellectual disability but the severity is not noted.
Intellectual disability v8.6 PLA2G16 Eleanor Williams Gene: pla2g16 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.5 PLA2G16 Eleanor Williams Deleted their comment
Intellectual disability v8.5 PLA2G16 Eleanor Williams Deleted their comment
Lipodystrophy - childhood onset v4.60 PLA2G16 Eleanor Williams Tag Q3_24_NHS_review was removed from gene: PLA2G16.
Lipodystrophy - childhood onset v4.60 PLA2G16 Eleanor Williams Classified gene: PLA2G16 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v4.60 PLA2G16 Eleanor Williams Added comment: Comment on list classification: Rating as amber but with a recommendation for green rating following GMS review. 4 cases with 3 different variants in PLA2G16/PLAAT3 and a consistent phenotype that includes lipoatrophy and insulin resistance with childhood onset of symptoms.
Lipodystrophy - childhood onset v4.60 PLA2G16 Eleanor Williams Gene: pla2g16 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v4.59 PLA2G16 Eleanor Williams Deleted their comment
Lipodystrophy - childhood onset v4.59 PLA2G16 Eleanor Williams Deleted their comment
Lipodystrophy - childhood onset v4.59 PLA2G16 Eleanor Williams changed review comment from: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes peripheral neuropathy.; to: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes lipodystrophy and insulin resistance with childhood onset.
Lipodystrophy - childhood onset v4.59 PLA2G6 Eleanor Williams Phenotypes for gene: PLA2G6 were changed from Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034 to none
Lipodystrophy - childhood onset v4.58 PLA2G6 Eleanor Williams Publications for gene: PLA2G6 were set to 37919452
Lipodystrophy - childhood onset v4.57 PLA2G6 Eleanor Williams Classified gene: PLA2G6 as No list
Lipodystrophy - childhood onset v4.57 PLA2G6 Eleanor Williams Gene: pla2g6 has been removed from the panel.
Lipodystrophy - childhood onset v4.56 PLA2G16 Eleanor Williams Entity copied from Hereditary neuropathy or pain disorder v6.19
Lipodystrophy - childhood onset v4.56 PLA2G16 Eleanor Williams gene: PLA2G16 was added
gene: PLA2G16 was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review Amber
new-gene-name, Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: PLA2G16.
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to 37919452
Phenotypes for gene: PLA2G16 were set to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034
Intellectual disability v8.5 PLA2G16 Eleanor Williams Entity copied from Hereditary neuropathy or pain disorder v6.19
Intellectual disability v8.5 PLA2G16 Eleanor Williams gene: PLA2G16 was added
gene: PLA2G16 was added to Intellectual disability. Sources: Expert list,Expert Review Amber
new-gene-name, Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: PLA2G16.
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to 37919452
Phenotypes for gene: PLA2G16 were set to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034
Lipodystrophy - childhood onset v4.55 PLA2G6 Eleanor Williams commented on gene: PLA2G6
Lipodystrophy - childhood onset v4.55 PLA2G6 Eleanor Williams Deleted their review
Lipodystrophy - childhood onset v4.55 PLA2G6 Eleanor Williams Deleted their comment
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams changed review comment from: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial Lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families.

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.; to: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Psychomotor retardation/intellectual disability was observed in 3/7 patients but the severity is not recorded.

Age of onset of symptoms was 19 years, 8 years, 9 months, 4 years, 4 years (not available for 2 patients).

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.
Lipodystrophy - childhood onset v4.55 PLA2G6 Eleanor Williams gene: PLA2G6 was added
gene: PLA2G6 was added to Lipodystrophy - childhood onset. Sources: Literature
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 37919452
Phenotypes for gene: PLA2G6 were set to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034
Added comment: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Psychomotor retardation/intellectual disability was observed in 3/7 patients but the severity is not recorded.

Age of onset of symptoms was 19 years, 8 years, 9 months, 4 years, 4 years (not available for 2 patients).

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.
Sources: Literature
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams Classified gene: PLA2G16 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes peripheral neuropathy.
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams Gene: pla2g16 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.18 PLA2G16 Eleanor Williams Phenotypes for gene: PLA2G16 were changed from to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams Tag new-gene-name tag was added to gene: PLA2G16.
Tag Q3_24_promote_green tag was added to gene: PLA2G16.
Tag Q3_24_NHS_review tag was added to gene: PLA2G16.
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams commented on gene: PLA2G16: The new gene name for PLA2G16 is PLAAT3.
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams edited their review of gene: PLA2G16: Added comment: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial Lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families.

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.; Changed phenotypes to: Associated with Lipodystrophy, familial partial, type 9, OMIM:620683, lipodystrophy, familial partial, type 9, MONDO:0958034
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams gene: PLA2G16 was added
gene: PLA2G16 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to 37919452
Added comment: Added as green by Alexander Rossor (UCL Institute of Neurology) - see https://panelapp.genomicsengland.co.uk/panels/846/gene/PLAA/
Sources: Expert list
Hereditary neuropathy or pain disorder v6.16 PLAA Eleanor Williams changed review comment from: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.; to: The paper PMID:37919452 refers to gene PLAAT3 previously known as PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.
Hereditary neuropathy or pain disorder v6.16 PLAA Eleanor Williams changed review comment from: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curator_removed' added.; to: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.
Hereditary neuropathy or pain disorder v6.16 PLAA Eleanor Williams Tag curated_removed tag was added to gene: PLAA.
Hereditary neuropathy or pain disorder v6.16 PLAA Eleanor Williams commented on gene: PLAA
Hereditary neuropathy or pain disorder v6.16 NDUFS6 Eleanor Williams Publications for gene: NDUFS6 were set to 38459834; 38549004
Hereditary neuropathy or pain disorder v6.15 NDUFS6 Eleanor Williams Tag Q3_24_promote_green tag was added to gene: NDUFS6.
Tag Q3_24_NHS_review tag was added to gene: NDUFS6.
Hereditary neuropathy or pain disorder v6.15 NDUFS6 Eleanor Williams Classified gene: NDUFS6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.15 NDUFS6 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review. 3 separate publications report variants in this gene in patients with peripheral neuropathies. 2 different variants are reported.
Hereditary neuropathy or pain disorder v6.15 NDUFS6 Eleanor Williams Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.14 NDUFS6 Eleanor Williams changed review comment from: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR)

Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome in previous reports (PubMed: 19259137 and PubMed: 15372108).

There is now phenotypic expansion with 4 families reported with a less severe phenotype. 3 families share a common variant.

PMID: 38459834 - Camila Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago

PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.; to: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR)

Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome in previous reports (PubMed: 19259137 Spiegal et al 2009 and PubMed: 15372108 Kirby et al 2004, PMID: 30948790 - Rouzier et al 2019, PMID: 22474353 Ke et al 2012).

There is now phenotypic expansion with 5 families reported with a less severe phenotype. 4 families share a common variant.

PMID: 38459834 - Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago

PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.

PMID: 38217609 - Gangfuß et al 2024 - identified a homozygous variant (c.309 + 5 G > A) in NDUFS6 in one male patient aged 10 with axonal neuropathy accompanied by loss of small fibers in skin biopsy. The patient also showed optic atrophy and borderline intellectual disability.
Hereditary neuropathy or pain disorder v6.14 NDUFS6 Eleanor Williams changed review comment from: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR)

Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome. 4 families reported although 3 share a common variant.

PMID: 38459834 - Camila Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago

PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.; to: Associated with Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232 (AR)

Biallelic loss of function variants are associated with severe CI deficiency and Leigh syndrome in previous reports (PubMed: 19259137 and PubMed: 15372108).

There is now phenotypic expansion with 4 families reported with a less severe phenotype. 3 families share a common variant.

PMID: 38459834 - Camila Armirola-Ricaurte et al 2024. Describe 5 patients from 3 unrelated families from Spain, Turkey and Greece. They share a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant found be exome sequencing and an axonal Charcot-Marie-Tooth (CMT) neuropathy. Age of onset ranged from 1 to 10 years. In all cases the unaffected parents were heterozygous for the variant. The variant is predicted to affect splicing and in family 1 was shown to cause the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Haplotype analysis showed that the variant lies on a shared haplotype of 0.74MB on chromosome 5 and estimate the most recent common ancestor with the haplotype would have lived 740 years ago

PMID: 38549004 – Ferreira et al 2024 – screened nearly 11,000 patients with peripheral neuropathy for variants in known mitochondrial disease genes. 1 male was found with a homozygous variant c.320_323delCAAA, p.Thr107LysfsTer40 in NDUFS6.
Hereditary neuropathy or pain disorder v6.14 NDUFS6 Eleanor Williams Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232; mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615 to Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232; mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615
Hereditary neuropathy or pain disorder v6.13 NDUFS6 Eleanor Williams Phenotypes for gene: NDUFS6 were changed from peripheral neuropathy; nystagmus to Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232; mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615
Hereditary neuropathy or pain disorder v6.12 NDUFS6 Eleanor Williams Publications for gene: NDUFS6 were set to 38459834 : 38549004
Hereditary neuropathy or pain disorder v6.11 NDUFS6 Eleanor Williams edited their review of gene: NDUFS6: Changed publications to: 38459834, 38549004; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 9, OMIM: 618232, mitochondrial complex 1 deficiency, nuclear type 9, MONDO:0032615; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.11 NDUFS6 Eleanor Williams commented on gene: NDUFS6
Hereditary neuropathy or pain disorder v6.11 NOP56_GGCCTG Arina Puzriakova Publications for STR: NOP56_GGCCTG were set to
Adult onset neurodegenerative disorder v7.1 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder which is within the scope of this panel. Sufficient unrelated cases to support the gene-disease association. Flagging for additional GMS review to determine whether inclusion on this panel is beneficial as this STR was downgraded in 2020 due to omission from expert provided lists for this panel.

Currently this STR is only included as part of the R54 Hereditary ataxia with onset in adulthood GMS panel (v7.0).
Adult onset neurodegenerative disorder v7.1 NOP56_GGCCTG Arina Puzriakova Tag Q3_24_promote_green tag was added to STR: NOP56_GGCCTG.
Tag Q3_24_expert_review tag was added to STR: NOP56_GGCCTG.
Hereditary neuropathy or pain disorder v6.10 NOP56_GGCCTG Arina Puzriakova Tag Q3_24_promote_green tag was added to STR: NOP56_GGCCTG.
Tag Q3_24_NHS_review tag was added to STR: NOP56_GGCCTG.
Tag Q3_24_expert_review tag was added to STR: NOP56_GGCCTG.
Hereditary neuropathy or pain disorder v6.10 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: Gene entity was recently added by Alexander Rossor (UCL Institute of Neurology) indicating that NOP56 should be green on this panel (https://panelapp.genomicsengland.co.uk/panels/846/gene/NOP56/). Adding STR as mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs.

Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder. EMG in cases with skeletal muscle atrophy has shown neurogenic changes, indicating a lower motor neuropathy (PMID: 21683323). Flagging for additional GMS review to determine whether inclusion on this panel is beneficial.

Currently this STR is only included as part of the R54 Hereditary ataxia with onset in adulthood GMS panel (v7.0).
Hereditary neuropathy or pain disorder v6.10 NOP56_GGCCTG Arina Puzriakova Entity copied from Hereditary neuropathy v1.489
Hereditary neuropathy or pain disorder v6.10 NOP56_GGCCTG Arina Puzriakova STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review
STR tags were added to STR: NOP56_GGCCTG.
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36, OMIM:614153
Hereditary neuropathy or pain disorder v6.9 NOP56 Arina Puzriakova Classified gene: NOP56 as Red List (low evidence)
Hereditary neuropathy or pain disorder v6.9 NOP56 Arina Puzriakova Added comment: Comment on list classification: Added to this panel by Alexander Rossor (UCL Institute of Neurology). Good evidence but mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs and so rating the gene entity as Red. Added STR entity instead.
Hereditary neuropathy or pain disorder v6.9 NOP56 Arina Puzriakova Gene: nop56 has been classified as Red List (Low Evidence).
Intellectual disability v8.4 NOP56 Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from Other to Other
Hereditary neuropathy or pain disorder v6.8 NOP56 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: NOP56.
Tag currently-ngs-unreportable tag was added to gene: NOP56.
Hereditary neuropathy or pain disorder v6.8 NOP56 Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Hereditary neuropathy or pain disorder v6.7 NOP56 Arina Puzriakova Phenotypes for gene: NOP56 were changed from ataxia; motor neuropathy to Spinocerebellar ataxia 36, OMIM:614153
Hereditary neuropathy or pain disorder v6.6 PLA2G6 Arina Puzriakova Phenotypes for gene: PLA2G6 were changed from Neurodegeneration with brain iron accumulation; peripheral neuropathy to Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Infantile neuroaxonal dystrophy 1, OMIM:256600
Hereditary neuropathy or pain disorder v6.5 PLA2G6 Arina Puzriakova Publications for gene: PLA2G6 were set to 18443314: 16783378:
Hereditary neuropathy or pain disorder v6.4 PLA2G6 Arina Puzriakova Classified gene: PLA2G6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.4 PLA2G6 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variant in PLA2G6 are associated with multiple neurodegenerative phenotypes with overlapping clinical and radiologic features including Infantile neuroaxonal dystrophy (MIM# 256600), Neurodegeneration with brain iron accumulation (MIM# 610217) and Parkinson disease (MIM# 612953). Although not universal, progressive motor axonal neuropathy has been reported as an early feature in multiple patients harbouring PLA2G6 variants (PMID: 18443314; 25164370; 27882168; 29859652; 30340910). Neuropathy can present earlier than other typical features such as iron accumulation in the brain and has represented the main diagnostic feature in some cases. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.4 PLA2G6 Arina Puzriakova Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.3 PLA2G6 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PLA2G6.
Tag Q3_24_NHS_review tag was added to gene: PLA2G6.
Hereditary neuropathy or pain disorder v6.3 PIEZO2 Arina Puzriakova Publications for gene: PIEZO2 were set to 27653382
Hereditary neuropathy or pain disorder v6.2 PIEZO2 Arina Puzriakova Classified gene: PIEZO2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.2 PIEZO2 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variants cause distal arthrogryposis with impaired proprioception and touch. Mild sensory axonal neuropathy has been reported in some individuals (PMID: 27653382; 27843126; 27974811). Sufficient unrelated cases to promote this gene to Green at the next GMS panel update.

Neuropathy is not a feature of dominant phenotypes associated with PIEZO2.
Hereditary neuropathy or pain disorder v6.2 PIEZO2 Arina Puzriakova Gene: piezo2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.1 PIEZO2 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: PIEZO2.
Tag Q3_24_NHS_review tag was added to gene: PIEZO2.
Possible mitochondrial disorder - nuclear genes v3.110 TOMM7 Eleanor Williams commented on gene: TOMM7: This gene was initially added to the Skeletal dysplasia panel. TOMM7 is a nuclear gene that encodes a subunit of the translocase of the outer mitochondrial membrane.
Skeletal dysplasia v7.4 TOMM7 Eleanor Williams Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998
Possible mitochondrial disorder - nuclear genes v3.110 TOMM7 Eleanor Williams Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998
Possible mitochondrial disorder - nuclear genes v3.109 TOMM7 Eleanor Williams Entity copied from Skeletal dysplasia v7.3
Possible mitochondrial disorder - nuclear genes v3.109 TOMM7 Eleanor Williams gene: TOMM7 was added
gene: TOMM7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature,Expert Review Amber
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TOMM7.
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601; Garg-Mishra progeroid syndrome, MONDO:0957953
Skeletal dysplasia v7.3 TOMM7 Eleanor Williams Phenotypes for gene: TOMM7 were changed from Garg-Mishra progeroid syndrome; dwarfism; mandibular hypoplasia; microphthalmia; hyperopia; partial lipodystrophy to Garg-Mishra progeroid syndrome, OMIM:620601; Garg-Mishra progeroid syndrome, MONDO:0957953
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Deleted their comment
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams changed review comment from: Associated with Garg-Mishra progeroid syndrome, 620601 (AR) in OMIM.

As reviewer Hannah Knight states, 2 cases reported with different homozygous missense variants in TOMM7:

PMID: 36282599 - Garg et al 2022, man of Chinese ancestry with an autosomal recessive form of progeria, characterized by severe proportionate short stature with relative macrocephaly, dysmorphisms and significant learning disabilities. The variant c.86C>T; p.Pro29Leu) in TOMM7 was found in a homozygous state in the proband, while parents and unaffected siblings were heterozyous. Functional studies showed reduced interactions between the mutant protein and core TOMM complex proteins in patient fibroblasts, aswell as increased mitochondrial oxygen consumption compared to control cells

PMID: 36299998. Young et al 2022 - report a Japanese patient with a TOMM7 homozygous variant (c.73T>C, p.Trp25Arg). The proband presented with a syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. Results of studies with mouse models of TOMM7 deletion and also with knockin with the same variant suggest that the missense variant causes partial loss of Tomm7 function, producing a milder but still lethal phenotype compared to deletion.

A 3rd case is reported in PMID: 39333057 Yeole et al 2024 in which a homozygous splice variant c.153-2A > C in TOMM7 (NM_019059.5) was identified. The consanguineous parents were heterozygous for this variant. 2 siblings died after 52 days and 4 months of life respectively. Exome analysis was from the older sibling. In this case the phenotype was of neonatal-onset hypotonia, lactic acidosis, optic atrophy, and neuroimaging results suggestive of Leigh disease. Additionally Additionally, a known missense variant c.186G > C p.(Arg62Ser) in exon 3 of CASR (NM_001178065.2) was identified in causing hyperparathyroidism. No skeletal examination was performed.; to: Associated with Garg-Mishra progeroid syndrome, 620601 (AR) in OMIM.

As reviewer Hannah Knight states, 2 cases reported with different homozygous missense variants in TOMM7:

PMID: 36282599 - Garg et al 2022, man of Chinese ancestry with an autosomal recessive form of progeria, characterized by severe proportionate short stature with relative macrocephaly, dysmorphisms and significant learning disabilities. The variant c.86C>T; p.Pro29Leu) in TOMM7 was found in a homozygous state in the proband, while parents and unaffected siblings were heterozyous. Functional studies showed reduced interactions between the mutant protein and core TOMM complex proteins in patient fibroblasts, aswell as increased mitochondrial oxygen consumption compared to control cells

PMID: 36299998. Young et al 2022 - report a Japanese patient with a TOMM7 homozygous variant (c.73T>C, p.Trp25Arg). The proband presented with a syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. Results of studies with mouse models of TOMM7 deletion and also with knockin with the same variant suggest that the missense variant causes partial loss of Tomm7 function, producing a milder but still lethal phenotype compared to deletion. In addition, analysis of tibial growth plates in mutant mice showed shortening of the growth plate, suggesting reduced chondrocyte proliferation which could lead to the skeletal phenotype.

A 3rd case is reported in PMID: 39333057 Yeole et al 2024 in which a homozygous splice variant c.153-2A > C in TOMM7 (NM_019059.5) was identified. The consanguineous parents were heterozygous for this variant. 2 siblings died after 52 days and 4 months of life respectively. Exome analysis was from the older sibling. In this case the phenotype was of neonatal-onset hypotonia, lactic acidosis, optic atrophy, and neuroimaging results suggestive of Leigh disease. Additionally, a known missense variant c.186G > C p.(Arg62Ser) in exon 3 of CASR (NM_001178065.2) was identified in causing hyperparathyroidism. No skeletal examination was performed.
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Classified gene: TOMM7 as Amber List (moderate evidence)
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Added comment: Comment on list classification: 2 cases reported with a skeletal phenotype with additional functional evidence for pathogenicity for the missense variants. A 3rd case with with a homozyous splice variant reports a more severe phenotype, with no skeletal phenotype recorded but earlier death.

Recommend green rating following GMS approval.
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Classified gene: TOMM7 as Amber List (moderate evidence)
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Added comment: Comment on list classification: 2 cases reported with a skeletal phenotype with additional functional evidence for pathogenicity for the missense variants. A 3rd case with with a homozyous splice variant reports a more severe phenotype, with no skeletal phenotype recorded but earlier death.

Recommend green rating following GMS approval.
Skeletal dysplasia v7.2 TOMM7 Eleanor Williams Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v7.1 TOMM7 Eleanor Williams Tag Q3_24_promote_green tag was added to gene: TOMM7.
Tag Q3_24_NHS_review tag was added to gene: TOMM7.
Skeletal dysplasia v7.1 TOMM7 Eleanor Williams commented on gene: TOMM7
Paediatric disorders v60.10 Arina Puzriakova Panel version 60.9 has been signed off on 2024-10-30
Unexplained young onset end-stage renal disease v7.11 Eleanor Williams Panel version 7.10 has been signed off on 2024-10-30
Hereditary ataxia and cerebellar anomalies - childhood onset v19.4 Achchuthan Shanmugasundram Panel version 19.3 has been signed off on 2024-10-30
Cystic renal disease v10.4 Achchuthan Shanmugasundram Panel version 10.3 has been signed off on 2024-10-30
Childhood onset leukodystrophy v26.7 Achchuthan Shanmugasundram Panel version 26.6 has been signed off on 2024-10-30
Unexplained death in infancy and sudden unexplained death in childhood v16.7 Eleanor Williams Panel version 16.6 has been signed off on 2024-10-30
Other rare neuromuscular disorders v26.6 Arina Puzriakova Panel version 26.5 has been signed off on 2024-10-30
Hypotonic infant v38.8 Arina Puzriakova Panel version 38.7 has been signed off on 2024-10-30
Cerebral malformation v15.4 Achchuthan Shanmugasundram Panel version 15.3 has been signed off on 2024-10-30
Rare multisystem ciliopathy Super panel v17.5 Eleanor Williams Panel version 17.4 has been signed off on 2024-10-30
Brugada syndrome and cardiac sodium channel disease v3.12 Sarah Leigh Panel version 3.11 has been signed off on 2024-10-30
Proteinuric renal disease v4.16 Sarah Leigh Panel version 4.15 has been signed off on 2024-10-30
Haematuria v2.15 Sarah Leigh Panel version 2.14 has been signed off on 2024-10-30
Arrhythmogenic right ventricular cardiomyopathy v3.13 Sarah Leigh Panel version 3.12 has been signed off on 2024-10-30
Dilated and arrhythmogenic cardiomyopathy v2.33 Sarah Leigh Panel version 2.32 has been signed off on 2024-10-30
Hypertrophic cardiomyopathy v4.17 Sarah Leigh Panel version 4.16 has been signed off on 2024-10-30
Short QT syndrome v3.14 Sarah Leigh Panel version 3.13 has been signed off on 2024-10-30
Catecholaminergic polymorphic VT v5.1 Sarah Leigh Panel version 5.0 has been signed off on 2024-10-30
Catecholaminergic polymorphic VT v5.0 Sarah Leigh promoted panel to version 5.0
Intellectual disability v8.3 Arina Puzriakova Panel version 8.0 has been signed off on 2024-10-30
Progressive cardiac conduction disease v2.10 Eleanor Williams Panel version 2.9 has been signed off on 2024-10-30
Nephrocalcinosis or nephrolithiasis v4.17 Eleanor Williams Panel version 4.16 has been signed off on 2024-10-30
Hereditary systemic amyloidosis v1.23 Eleanor Williams Panel version 1.22 has been signed off on 2024-10-30
Tubulointerstitial kidney disease v3.5 Eleanor Williams Panel version 3.4 has been signed off on 2024-10-30
Renal tubulopathies v4.19 Eleanor Williams Panel version 4.18 has been signed off on 2024-10-30
Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.5 Eleanor Williams Panel version 3.4 has been signed off on 2024-10-30
Atypical haemolytic uraemic syndrome v3.5 Arina Puzriakova Panel version 3.4 has been signed off on 2024-10-30
Long QT syndrome v3.10 Arina Puzriakova Panel version 3.9 has been signed off on 2024-10-30
Skeletal ciliopathies v5.2 Achchuthan Shanmugasundram Panel version 5.1 has been signed off on 2024-10-30
Paediatric motor neuronopathies v3.9 Arina Puzriakova Panel version 3.8 has been signed off on 2024-10-30
Ophthalmological ciliopathies v4.6 Arina Puzriakova Panel version 4.5 has been signed off on 2024-10-30
Limb disorders v6.3 Arina Puzriakova Panel version 6.2 has been signed off on 2024-10-30
Rhabdomyolysis and metabolic muscle disorders v5.2 Achchuthan Shanmugasundram Panel version 5.1 has been signed off on 2024-10-30
Congenital disorders of glycosylation v6.8 Arina Puzriakova Panel version 6.7 has been signed off on 2024-10-30
Clefting v6.4 Arina Puzriakova Panel version 6.3 has been signed off on 2024-10-30
Renal ciliopathies v3.14 Achchuthan Shanmugasundram Panel version 3.13 has been signed off on 2024-10-30
Holoprosencephaly - NOT chromosomal v5.2 Achchuthan Shanmugasundram Panel version 5.1 has been signed off on 2024-10-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.38 Achchuthan Shanmugasundram Panel version 4.37 has been signed off on 2024-10-30
Bilateral congenital or childhood onset cataracts v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2024-10-30
Bilateral congenital or childhood onset cataracts v6.0 Sarah Leigh promoted panel to version 6.0
Congenital myaesthenic syndrome v4.9 Achchuthan Shanmugasundram Panel version 4.8 has been signed off on 2024-10-30
Neurological segmental overgrowth v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2024-10-30
Neurological segmental overgrowth v3.0 Arina Puzriakova promoted panel to version 3.0
Intellectual disability v8.2 Sarah Leigh Panel signed off version 8.0 has been removed
Monogenic hearing loss v4.58 Achchuthan Shanmugasundram Panel version 4.57 has been signed off on 2024-10-30
Neurological ciliopathies v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-10-30
Intellectual disability v8.1 Sarah Leigh Panel version 8.0 has been signed off on 2024-10-30
Neurological ciliopathies v5.0 Arina Puzriakova promoted panel to version 5.0
White matter disorders and cerebral calcification - narrow panel v6.1 Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-10-30
Mitochondrial disorders v8.1 Arina Puzriakova Panel version 8.0 has been signed off on 2024-10-30
White matter disorders and cerebral calcification - narrow panel v6.0 Achchuthan Shanmugasundram promoted panel to version 6.0
Mitochondrial disorders v8.0 Arina Puzriakova promoted panel to version 8.0
Intellectual disability v8.0 Sarah Leigh promoted panel to version 8.0
Childhood onset hereditary spastic paraplegia v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2024-10-30
Childhood onset hereditary spastic paraplegia v7.0 Eleanor Williams promoted panel to version 7.0
Fetal anomalies v5.1 Sarah Leigh Panel version 5.0 has been signed off on 2024-10-30
Unexplained young onset end-stage renal disease - additional genes v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-10-30
Fetal anomalies v5.0 Sarah Leigh promoted panel to version 5.0
Malformations of cortical development v7.1 Arina Puzriakova Panel version 7.0 has been signed off on 2024-10-30
Unexplained young onset end-stage renal disease - additional genes v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Malformations of cortical development v7.0 Arina Puzriakova promoted panel to version 7.0
Early onset or syndromic epilepsy v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2024-10-30
Unexplained young onset end-stage renal disease - additional genes v0.131 Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel; GMS signed-off
Primary immunodeficiency or monogenic inflammatory bowel disease v7.1 Sarah Leigh Panel version 7.0 has been signed off on 2024-10-30
Early onset or syndromic epilepsy v7.0 Eleanor Williams promoted panel to version 7.0
Primary immunodeficiency or monogenic inflammatory bowel disease v7.0 Sarah Leigh promoted panel to version 7.0
Distal myopathies v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2024-10-30
Likely inborn error of metabolism v7.1 Achchuthan Shanmugasundram Panel version 7.0 has been signed off on 2024-10-30
Adult onset neurodegenerative disorder v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2024-10-30
Distal myopathies v6.0 Arina Puzriakova promoted panel to version 6.0
Adult onset neurodegenerative disorder v7.0 Eleanor Williams promoted panel to version 7.0
Paediatric or syndromic cardiomyopathy v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2024-10-30
Childhood onset dystonia, chorea or related movement disorder v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-10-30
Paediatric or syndromic cardiomyopathy v6.0 Sarah Leigh promoted panel to version 6.0
DDG2P v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-10-30
Childhood onset dystonia, chorea or related movement disorder v6.0 Eleanor Williams promoted panel to version 6.0
Likely inborn error of metabolism v7.0 Achchuthan Shanmugasundram promoted panel to version 7.0
DDG2P v5.0 Arina Puzriakova promoted panel to version 5.0
Hereditary ataxia with onset in adulthood v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2024-10-30
Severe microcephaly v7.1 Achchuthan Shanmugasundram Panel version 7.0 has been signed off on 2024-10-30
Skeletal dysplasia v7.1 Sarah Leigh Panel version 7.0 has been signed off on 2024-10-30
Severe microcephaly v7.0 Achchuthan Shanmugasundram promoted panel to version 7.0
Hereditary ataxia with onset in adulthood v7.0 Eleanor Williams promoted panel to version 7.0
Cystic kidney disease v7.1 Arina Puzriakova Panel version 7.0 has been signed off on 2024-10-30
Skeletal dysplasia v7.0 Sarah Leigh promoted panel to version 7.0
Cystic kidney disease v7.0 Arina Puzriakova promoted panel to version 7.0
Arthrogryposis v8.1 Achchuthan Shanmugasundram Panel version 8.0 has been signed off on 2024-10-30
APOL1 kidney donor testing v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2024-10-30
APOL1 kidney donor testing v1.0 Eleanor Williams promoted panel to version 1.0
Arthrogryposis v8.0 Achchuthan Shanmugasundram promoted panel to version 8.0
APOL1 kidney donor testing v0.8 Eleanor Williams Panel status changed from internal to public
Panel types changed to GMS Rare Disease; GMS signed-off
Ataxia and cerebellar anomalies - narrow panel v7.1 Arina Puzriakova Panel version 7.0 has been signed off on 2024-10-30
Paediatric disorders - additional genes v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2024-10-30
Ataxia and cerebellar anomalies - narrow panel v7.0 Arina Puzriakova promoted panel to version 7.0
Congenital myopathy v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-10-30
NICE approved PARP inhibitor treatment v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2024-10-30
NICE approved PARP inhibitor treatment v1.0 Eleanor Williams promoted panel to version 1.0
Congenital myopathy v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
NICE approved PARP inhibitor treatment v0.10 Eleanor Williams Panel status changed from internal to public
Panel types changed to GMS Rare Disease; GMS signed-off
Paediatric disorders - additional genes v6.0 Sarah Leigh promoted panel to version 6.0
Paediatric disorders - additional genes v6.0 Sarah Leigh promoted panel to version 6.0
Congenital muscular dystrophy v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-10-30
Retinal disorders v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2024-10-30
Congenital muscular dystrophy v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
Retinal disorders v7.0 Eleanor Williams promoted panel to version 7.0
Hereditary neuropathy or pain disorder v6.1 Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-10-30
Hereditary neuropathy or pain disorder v6.0 Achchuthan Shanmugasundram promoted panel to version 6.0
Hereditary neuropathy or pain disorder v5.107 PIEZO2 Arina Puzriakova Phenotypes for gene: PIEZO2 were changed from arthrodryposis; sensory neuropathy to Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146
Unexplained young onset end-stage renal disease v5.35 Achchuthan Shanmugasundram Changed child panels to: Cystic kidney disease; Renal tubulopathies; Nephrocalcinosis or nephrolithiasis; Proteinuric renal disease; Renal ciliopathies; Tubulointerstitial kidney disease; Membranoproliferative glomerulonephritis including C3 glomerulopathy; Atypical haemolytic uraemic syndrome; Haematuria; Hereditary systemic amyloidosis; Unexplained young onset end-stage renal disease - additional genes
Unexplained young onset end-stage renal disease - additional genes v0.129 Achchuthan Shanmugasundram Panel status changed from internal to public
Unexplained young onset end-stage renal disease v5.34 Achchuthan Shanmugasundram Changed child panels to: Cystic kidney disease; Renal tubulopathies; Nephrocalcinosis or nephrolithiasis; Proteinuric renal disease; Renal ciliopathies; Tubulointerstitial kidney disease; Membranoproliferative glomerulonephritis including C3 glomerulopathy; Atypical haemolytic uraemic syndrome; Haematuria; Hereditary systemic amyloidosis
Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS Rare Disease; GMS signed-off
Hereditary systemic amyloidosis v1.22 Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Haematuria v2.14 Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Renal tubulopathies v4.18 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Atypical haemolytic uraemic syndrome v3.4 Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Proteinuric renal disease v4.15 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Arthrogryposis v7.6 Arina Puzriakova List of related panels changed from Arthrogrythsis; R83 to R83
Nephrocalcinosis or nephrolithiasis v4.16 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Tubulointerstitial kidney disease v3.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.4 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myopathy v4.44 ZC4H2 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: ZC4H2.
Congenital myopathy v4.44 UNC45B Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: UNC45B.
Congenital myopathy v4.44 TRDN Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: TRDN.
Congenital myopathy v4.44 SPTBN4 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: SPTBN4.
Congenital myopathy v4.44 MLIP Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: MLIP.
Congenital myopathy v4.44 LETM1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: LETM1.
Congenital myopathy v4.44 KY Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: KY.
Congenital myopathy v4.44 GBE1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: GBE1.
Congenital myopathy v4.44 DNAJB4 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: DNAJB4.
Congenital myopathy v4.44 COL25A1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: COL25A1.
Congenital myopathy v4.44 COL13A1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: COL13A1.
Congenital myopathy v4.44 ASCC1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: ASCC1.
Congenital muscular dystrophy v4.29 POGLUT1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: POGLUT1.
Congenital muscular dystrophy v4.29 GOSR2 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: GOSR2.
Congenital muscular dystrophy v4.29 GOLGA2 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: GOLGA2.
Congenital muscular dystrophy v4.29 EMD Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: EMD.
Congenital muscular dystrophy v4.29 DTNA Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: DTNA.
Congenital muscular dystrophy v4.29 DPM3 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: DPM3.
Congenital muscular dystrophy v4.29 BET1 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: BET1.
Early onset or syndromic epilepsy v6.15 CCDC88A Cassandra Smith reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39334473, 37798908, 26917597; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.15 MSL2 Arina Puzriakova Tag gene-checked was removed from gene: MSL2.
Intellectual disability v7.67 MSL2 Arina Puzriakova Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
Optic neuropathy v4.35 BORCS8 Arina Puzriakova Tag gene-checked was removed from gene: BORCS8.
Tag Q3_24_promote_green tag was added to gene: BORCS8.
Intellectual disability v7.66 BORCS8 Arina Puzriakova Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Early onset or syndromic epilepsy v6.15 BORCS8 Arina Puzriakova Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Intellectual disability v7.65 BORCS8 Arina Puzriakova Tag gene-checked was removed from gene: BORCS8.
Early onset or syndromic epilepsy v6.14 BORCS8 Arina Puzriakova Tag gene-checked was removed from gene: BORCS8.
DDG2P v4.15 BORCS8 Arina Puzriakova Tag gene-checked was removed from gene: BORCS8.
Childhood onset hereditary spastic paraplegia v6.11 BORCS8 Arina Puzriakova Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Childhood onset hereditary spastic paraplegia v6.10 BORCS8 Arina Puzriakova Tag gene-checked was removed from gene: BORCS8.
Optic neuropathy v4.35 BORCS8 Arina Puzriakova Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; hereditary optic neuropathy, MONDO:0020249 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Optic neuropathy v4.34 BORCS8 Arina Puzriakova Tag Q3_24_promote_green was removed from gene: BORCS8.
Monogenic short stature v1.1 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Intellectual disability v7.65 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Monogenic short stature v1.1 CENPJ Arina Puzriakova commented on gene: CENPJ
Intellectual disability v7.65 CENPJ Arina Puzriakova commented on gene: CENPJ
DDG2P v4.15 CENPJ Arina Puzriakova commented on gene: CENPJ
DDG2P v4.15 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Fetal anomalies v4.198 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Fetal anomalies v4.198 CENPJ Arina Puzriakova commented on gene: CENPJ
Severe microcephaly v6.8 CENPJ Arina Puzriakova commented on gene: CENPJ
Severe microcephaly v6.8 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Cerebral vascular malformations v3.16 CENPJ Arina Puzriakova commented on gene: CENPJ
Cerebral vascular malformations v3.16 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
IUGR and IGF abnormalities v1.69 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
IUGR and IGF abnormalities v1.69 CENPJ Arina Puzriakova commented on gene: CENPJ
Rare multisystem ciliopathy disorders v1.174 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Intellectual disability v7.65 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
DDG2P v4.15 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Fetal anomalies v4.198 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Respiratory ciliopathies including non-CF bronchiectasis v3.19 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Laterality disorders and isomerism v3.17 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Rare multisystem ciliopathy disorders v1.174 CCDC103 Arina Puzriakova commented on gene: CCDC103
Intellectual disability v7.65 CCDC103 Arina Puzriakova commented on gene: CCDC103: Added new-gene-name tag, new approved HGNC gene symbol for CCDC103 is DNAAF19.
DDG2P v4.15 CCDC103 Arina Puzriakova commented on gene: CCDC103
Fetal anomalies v4.198 CCDC103 Arina Puzriakova commented on gene: CCDC103
Laterality disorders and isomerism v3.17 CCDC103 Arina Puzriakova commented on gene: CCDC103
Respiratory ciliopathies including non-CF bronchiectasis v3.19 CCDC103 Arina Puzriakova commented on gene: CCDC103
Primary ciliary disorders v1.42 CCDC103 Arina Puzriakova commented on gene: CCDC103
Primary ciliary disorders v1.42 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Unexplained young onset end-stage renal disease - additional genes v0.128 Achchuthan Shanmugasundram Panel status changed from public to internal
APOL1 kidney donor testing v0.7 Achchuthan Shanmugasundram Panel status changed from public to internal
NICE approved PARP inhibitor treatment v0.9 Achchuthan Shanmugasundram Panel status changed from public to internal
Hereditary neuropathy or pain disorder v5.106 MFF Achchuthan Shanmugasundram Classified gene: MFF as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.106 MFF Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two patients reported with neuropathy so far. Hence, this gene should be rated amber with current evidence.
Hereditary neuropathy or pain disorder v5.106 MFF Achchuthan Shanmugasundram Gene: mff has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.105 MFF Achchuthan Shanmugasundram Phenotypes for gene: MFF were changed from encephalopathy; developmental delay; peripheral neuropathy in some to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086
Hereditary neuropathy or pain disorder v5.104 MFF Achchuthan Shanmugasundram Deleted their comment
Hereditary neuropathy or pain disorder v5.104 MFF Achchuthan Shanmugasundram commented on gene: MFF: PMID:26783368 reported three patients from two unrelated families with EMPF2 and with biallelic MFF variants. Patient 1 (an Austrian boy) was identified with compound heterozygous variants (p.Leu62Profs*13; p.Arg298Ter) and had mixed form of peripheral neuropathy shown on compound muscle action potential. Patient 3 (one of two Turkish siblings) had phenotype consistent with demyelinating peripheral neuropathy, which was absent in his brother. They had homozygous p.Glu153Alafs*5 variants.

Although EMPF2 was reported in other patients (PMIDs: 22499341; 32181496; 34750646), neuropathy was not reported in them.
Hereditary neuropathy or pain disorder v5.104 MFF Achchuthan Shanmugasundram reviewed gene: MFF: Rating: AMBER; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, OMIM:617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.127 Achchuthan Shanmugasundram Panel status changed from internal to public
APOL1 kidney donor testing v0.6 Achchuthan Shanmugasundram Panel status changed from internal to public
NICE approved PARP inhibitor treatment v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
Intellectual disability v7.65 TBCE Eleanor Williams Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; KENNY-CAFFEY SYNDROME TYPE 1 (KCS1) to Kenny-Caffey syndrome, type 1, OMIM:244460; autosomal recessive Kenny-Caffey syndrome, MONDO:0009486; Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410; hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426
Hereditary neuropathy or pain disorder v5.104 MAPK8IP3 Eleanor Williams commented on gene: MAPK8IP3: Awaiting clinical feedback before deciding on rating.
Hereditary neuropathy or pain disorder v5.104 MAPK8IP3 Eleanor Williams reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 37462082, 30945334, 30612693; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
White matter disorders and cerebral calcification - narrow panel v5.3 HPDL Eleanor Williams Tag Q3_24_promote_green tag was added to gene: HPDL.
Hereditary neuropathy or pain disorder v5.104 HPDL Eleanor Williams Tag Q3_24_promote_green tag was added to gene: HPDL.
Tag Q3_24_NHS_review tag was added to gene: HPDL.
Hereditary neuropathy or pain disorder v5.104 HPDL Eleanor Williams Phenotypes for gene: HPDL were changed from developmental delay; spastic paraplegia; peripheral neuropathy to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Spastic paraplegia 83, autosomal recessive, OMIM:619027; neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; spastic paraplegia 83, autosomal recessive, MONDO:0033614
Hereditary neuropathy or pain disorder v5.103 HPDL Eleanor Williams Classified gene: HPDL as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.103 HPDL Eleanor Williams Added comment: Comment on list classification: On recommendation of clinical expert this gene has been promoted to amber and has been tagged for promotion to green subject to GMS review.
Hereditary neuropathy or pain disorder v5.103 HPDL Eleanor Williams Gene: hpdl has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.102 HPDL Eleanor Williams reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Spastic paraplegia 83, autosomal recessive, OMIM:619027, neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v5.8 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from fatty acid hydroxylase-associated neurodegeneration; Dystonia; Spastic paraplegia 35, autosomal recessive 612319 to fatty acid hydroxylase-associated neurodegeneration; Dystonia; Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Likely inborn error of metabolism v6.23 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Likely inborn error of metabolism v6.22 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Likely inborn error of metabolism v6.22 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis); Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Hereditary spastic paraplegia to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Adult onset hereditary spastic paraplegia v5.2 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 611026 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Childhood onset hereditary spastic paraplegia v6.10 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Hereditary neuropathy or pain disorder v5.102 EXOSC3 Eleanor Williams Phenotypes for gene: EXOSC3 were changed from pontocerebellar hypoplasia; motor neuropathy to Pontocerebellar hypoplasia, type 1B, OMIM:614678; pontocerebellar hypoplasia type 1B, MONDO:0013853
Hereditary neuropathy or pain disorder v5.101 EXOSC3 Eleanor Williams Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734
Hereditary neuropathy or pain disorder v5.100 FA2H Eleanor Williams Phenotypes for gene: FA2H were changed from SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Hereditary neuropathy or pain disorder v5.99 FA2H Eleanor Williams Publications for gene: FA2H were set to 22146942
Hereditary neuropathy or pain disorder v5.98 FA2H Eleanor Williams Tag Q3_24_promote_green tag was added to gene: FA2H.
Tag Q3_24_NHS_review tag was added to gene: FA2H.
Hereditary neuropathy or pain disorder v5.98 FA2H Eleanor Williams Classified gene: FA2H as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.98 FA2H Eleanor Williams Added comment: Comment on list classification: Promoting with amber with a recommendation for green rating as there are now 4 cases with peripheral neuropathy and variants in this gene reported.
Hereditary neuropathy or pain disorder v5.98 FA2H Eleanor Williams Gene: fa2h has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.97 FA2H Eleanor Williams edited their review of gene: FA2H: Changed phenotypes to: Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Hereditary neuropathy or pain disorder v5.97 FA2H Eleanor Williams reviewed gene: FA2H: Rating: ; Mode of pathogenicity: None; Publications: 22146942, 31135052; Phenotypes: Spastic paraplegia 35, autosomal recessive, OMIM:612319; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.97 EXOSC3 Eleanor Williams Classified gene: EXOSC3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.97 EXOSC3 Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a proposal to promote to green following NHS GMS review. There are sufficient cases with a relevant phenotype and variants in this gene.
Hereditary neuropathy or pain disorder v5.97 EXOSC3 Eleanor Williams Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.96 EXOSC3 Eleanor Williams Tag Q3_24_promote_green tag was added to gene: EXOSC3.
Tag Q3_24_NHS_review tag was added to gene: EXOSC3.
Hereditary neuropathy or pain disorder v5.96 EXOSC3 Eleanor Williams reviewed gene: EXOSC3: Rating: ; Mode of pathogenicity: None; Publications: 23564332, 24524299, 25149867, 12548734; Phenotypes: Pontocerebellar hypoplasia, type 1B, OMIM:614678, pontocerebellar hypoplasia type 1B, MONDO:0013853; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.96 PTRH2 Achchuthan Shanmugasundram Classified gene: PTRH2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.96 PTRH2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there are multiple unrelated individuals presenting with peripheral neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v5.96 PTRH2 Achchuthan Shanmugasundram Gene: ptrh2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.95 PTRH2 Achchuthan Shanmugasundram Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263
Hereditary neuropathy or pain disorder v5.94 PTRH2 Achchuthan Shanmugasundram Publications for gene: PTRH2 were set to 25572476; 25558065
Hereditary neuropathy or pain disorder v5.93 PTRH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTRH2.
Tag Q3_24_NHS_review tag was added to gene: PTRH2.
Hereditary neuropathy or pain disorder v5.93 PTRH2 Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39176129; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.93 PDHA1 Achchuthan Shanmugasundram Classified gene: PDHA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.93 PDHA1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is sufficient evidence available for the association of this gene with syndromic neuropathy and hence this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v5.93 PDHA1 Achchuthan Shanmugasundram Gene: pdha1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.92 PDHA1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: PDHA1.
Hereditary neuropathy or pain disorder v5.92 PDHA1 Achchuthan Shanmugasundram Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170
Hereditary neuropathy or pain disorder v5.91 PDHA1 Achchuthan Shanmugasundram Publications for gene: PDHA1 were set to
Hereditary neuropathy or pain disorder v5.90 PDHA1 Achchuthan Shanmugasundram Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v5.89 PDHA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDHA1.
Hereditary neuropathy or pain disorder v5.89 PDHA1 Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33661577, 36693417, 38497591; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v5.89 TBCE Arina Puzriakova Phenotypes for gene: TBCE were changed from encephalopathy; peripheral neuropathy to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207
Intellectual disability v7.64 TRMT5 Arina Puzriakova Tag Q3_24_NHS_review was removed from gene: TRMT5.
Intellectual disability v7.64 TRMT5 Arina Puzriakova changed review comment from: Comment on list classification: New gene added to the panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Associated with relevant phenotype in OMIM, but not associated with phenotype in G2P. At least 3 variants reported in at least three cases, together with supportive functional studies.

Phenotype is characterised as a highly variable multisystemic disorder, ranging from hypotonia and GDD in infancy to exercise intolerance and muscle weakness in early adulthood. Peripheral neuropathy is a universal feature in all cases. Various other neurological features such as spasticity, cerebellar signs and seizures, and involvement of other organ systems, including the heart, pancreas, and kidney may also be observed.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Associated with relevant phenotype in OMIM, but not associated with phenotype in G2P. At least 3 variants reported in at least three cases, together with supportive functional studies.

Phenotype is characterised as a highly variable multisystemic disorder, ranging from hypotonia and GDD in infancy to exercise intolerance and muscle weakness in early adulthood. Peripheral neuropathy is a universal feature in all cases. Various other neurological features such as spasticity, cerebellar signs and seizures, and involvement of other organ systems, including the heart, pancreas, and kidney may also be observed.
Intellectual disability v7.64 TRMT5 Arina Puzriakova Entity copied from Hereditary neuropathy or pain disorder v5.88
Intellectual disability v7.64 TRMT5 Arina Puzriakova gene: TRMT5 was added
gene: TRMT5 was added to Intellectual disability. Sources: Expert list,Expert Review Amber
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TRMT5.
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to 35342985; 26189817; 29021354
Phenotypes for gene: TRMT5 were set to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Penetrance for gene: TRMT5 were set to Complete
Hereditary neuropathy or pain disorder v5.88 TRMT5 Arina Puzriakova Tag Q3_24_promote_green tag was added to TRMT5.
Tag Q3_24_NHS_review tag was added to TRMT5.
Hereditary neuropathy or pain disorder v5.87 TRMT5 Arina Puzriakova Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354
Hereditary neuropathy or pain disorder v5.86 TRMT5 Arina Puzriakova Classified gene: TRMT5 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.86 TRMT5 Arina Puzriakova Added comment: Comment on list classification: New gene added to the panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Associated with relevant phenotype in OMIM, but not associated with phenotype in G2P. At least 3 variants reported in at least three cases, together with supportive functional studies.

Phenotype is characterised as a highly variable multisystemic disorder, ranging from hypotonia and GDD in infancy to exercise intolerance and muscle weakness in early adulthood. Peripheral neuropathy is a universal feature in all cases. Various other neurological features such as spasticity, cerebellar signs and seizures, and involvement of other organ systems, including the heart, pancreas, and kidney may also be observed.
Hereditary neuropathy or pain disorder v5.86 TRMT5 Arina Puzriakova Gene: trmt5 has been classified as Amber List (Moderate Evidence).
Acute rhabdomyolysis v1.19 DMD Arina Puzriakova Phenotypes for gene: DMD were changed from Becker muscular dystrophy, OMIM:300376; Exercise induced crams and myoglobinuria to Becker muscular dystrophy, OMIM:300376; Exercise induced cramps and myoglobinuria
Likely inborn error of metabolism v6.21 TRMT5 Arina Puzriakova Phenotypes for gene: TRMT5 were changed from Combined oxidative phosphorylation deficiency 26 616539; Multiple Respiratory-Chain Deficiencies to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Mitochondrial disorders v7.6 TRMT5 Arina Puzriakova Phenotypes for gene: TRMT5 were changed from Combined oxidative phosphorylation deficiency 26 616539 to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Possible mitochondrial disorder - nuclear genes v3.108 TRMT5 Arina Puzriakova Phenotypes for gene: TRMT5 were changed from Combined oxidative phosphorylation deficiency 26, 616539 to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Hereditary neuropathy or pain disorder v5.85 TRMT5 Arina Puzriakova Phenotypes for gene: TRMT5 were changed from develomental delay; spasticity; peripheral neuropathy to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Hereditary neuropathy or pain disorder v5.84 UCHL1 Arina Puzriakova Publications for gene: UCHL1 were set to 35986737
Hereditary neuropathy or pain disorder v5.83 UCHL1 Arina Puzriakova Classified gene: UCHL1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.83 UCHL1 Arina Puzriakova Added comment: Comment on list classification: Sensorimotor neuropathy has been reported in both Spastic paraplegia 79A, autosomal dominant, OMIM:620221 and Spastic paraplegia 79B, autosomal recessive, OMIM:615491. Sufficient unrelated cases for both MOIs to promote to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v5.83 UCHL1 Arina Puzriakova Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.82 UCHL1 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: UCHL1.
Tag Q3_24_NHS_review tag was added to gene: UCHL1.
Hereditary neuropathy or pain disorder v5.82 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from spasticity; ataxia; peripheral neuropathy to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Hereditary neuropathy or pain disorder v5.81 UQCRC1 Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.81 UQCRC1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804).

This matches the latest classification on other GMS panels. Furthermore, polyneuropathy was only confirmed in 1/3 families. Knock-in mice with the affected family variant did exhibit significant reductions in distal CMAP amplitudes compared to WT littermates at 12 months (but not 9 months), as well as a slightly reduced conduction velocity but preserved distal motor latency. Peripheral nerve fibre morphology showed decrease in the diameter of myelinated nerve fibres.
Hereditary neuropathy or pain disorder v5.81 UQCRC1 Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.80 UQCRC1 Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from parkinsonism; peripheral neuropathy to Parkinsonism with polyneuropathy, OMIM:619279
Adult onset neurodegenerative disorder v6.7 VPS13D Arina Puzriakova Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
Childhood onset dystonia, chorea or related movement disorder v5.7 VPS13D Arina Puzriakova Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
Hereditary ataxia with onset in adulthood v6.8 VPS13D Arina Puzriakova Phenotypes for gene: VPS13D were changed from Autosomal recessive spinocerebellar ataxia 4, 608877; Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
Hereditary ataxia v1.333 VPS13D Arina Puzriakova Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
Ataxia and cerebellar anomalies - narrow panel v6.6 VPS13D Arina Puzriakova Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
Hereditary neuropathy or pain disorder v5.79 VPS13D Arina Puzriakova Phenotypes for gene: VPS13D were changed from ataxia; spasticity; peripheral neuropathy to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
Hereditary neuropathy or pain disorder v5.78 VPS13D Arina Puzriakova Classified gene: VPS13D as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.78 VPS13D Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Biallelic variants in VPS13D cause a progressive spinocerebellar ataxia which can be associated with mild to moderate axonal sensorineural peripheral neuropathy. Sufficient unrelated cases to justify inclusion on the panel.
Hereditary neuropathy or pain disorder v5.78 VPS13D Arina Puzriakova Gene: vps13d has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.77 VPS13D Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: VPS13D.
Tag Q3_24_NHS_review tag was added to gene: VPS13D.
Hereditary neuropathy or pain disorder v5.77 NUDT2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: NUDT2.
Tag Q3_24_promote_green tag was added to gene: NUDT2.
Tag Q3_24_NHS_review tag was added to gene: NUDT2.
Hereditary neuropathy or pain disorder v5.77 NUDT2 Achchuthan Shanmugasundram Classified gene: NUDT2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.77 NUDT2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v5.77 NUDT2 Achchuthan Shanmugasundram Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.76 NUDT2 Achchuthan Shanmugasundram Phenotypes for gene: NUDT2 were changed from Sensorimotor polyneuropathy; Muscular hypotonia; Intellectual disability; no OMIM number to Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
Hereditary neuropathy or pain disorder v5.75 NUDT2 Achchuthan Shanmugasundram Publications for gene: NUDT2 were set to 33058507
Hereditary neuropathy or pain disorder v5.74 NUDT2 Achchuthan Shanmugasundram edited their review of gene: NUDT2: Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.74 NUDT2 Achchuthan Shanmugasundram edited their review of gene: NUDT2: Added comment: As reviewed by Alexander Rossor, PMID:38141063 reported 18 patients from 10 different families with a neurological disorder typified by intellectual disability, motor developmental delay and gait disturbance and they were all identified with biallelic NUDT2 variants. 71% of these patients had sensorimotor neuropathy.; Changed publications to: 27431290, 30059600, 33058507, 38141063
Hereditary neuropathy or pain disorder v5.74 NARS Achchuthan Shanmugasundram commented on gene: NARS: The new gene name for NARS is NARS1.
Hereditary neuropathy or pain disorder v5.74 NARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: NARS.
Hereditary neuropathy or pain disorder v5.74 NARS Achchuthan Shanmugasundram Classified gene: NARS as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.74 NARS Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene top green rating on the next GMS update. The MOI can be set as 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are at least three cases reported with both modes of inheritance.
Hereditary neuropathy or pain disorder v5.74 NARS Achchuthan Shanmugasundram Gene: nars has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.73 NARS Achchuthan Shanmugasundram Phenotypes for gene: NARS were changed from developmental delay; seizures; peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092
Hereditary neuropathy or pain disorder v5.72 NARS Achchuthan Shanmugasundram changed review comment from: PMID:32738225 reported a total of 24 patients from 13 unrelated families with biallelic variants in the NARS1 gene and 8 unrelated patients with de novo heterozygous variants in the NARS1 gene. They presented with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia. Neuropathy was present in four patients from three families with biallelic variants and three unrelated individuals with monoallelic variants.

This gene has been associated with relevant phenotypes in both OMIM (MIMs #619091 & #619092) and Gene2Phenotype (monoallelic condition with 'strong' rating and biallelic condition with 'definitive' rating on the DD panel). This gene is also present with green rating on the 'Hereditary Neuropathy - complex' panel of PanelApp Australia.; to: PMID:32738225 reported a total of 24 patients from 13 unrelated families with biallelic variants in the NARS1 gene and 8 unrelated patients with de novo heterozygous variants in the NARS1 gene. They presented with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia. Neuropathy was present in four patients from three families with biallelic variants and three unrelated individuals with monoallelic variants. In addition, supportive functional data is also present.

This gene has been associated with relevant phenotypes in both OMIM (MIMs #619091 & #619092) and Gene2Phenotype (monoallelic condition with 'strong' rating and biallelic condition with 'definitive' rating on the DD panel). This gene is also present with green rating on the 'Hereditary Neuropathy - complex' panel of PanelApp Australia.
Hereditary neuropathy or pain disorder v5.72 NARS Achchuthan Shanmugasundram Publications for gene: NARS were set to 32738225:
Hereditary neuropathy or pain disorder v5.71 NARS Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NARS.
Tag Q3_24_NHS_review tag was added to gene: NARS.
Hereditary neuropathy or pain disorder v5.71 NARS Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 32738225, 32788587; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v6.2 COL5A1 Tracy Lester gene: COL5A1 was added
gene: COL5A1 was added to Limb disorders. Sources: NHS GMS
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL5A1 were set to 21611149; 20847697
Phenotypes for gene: COL5A1 were set to EDS
Penetrance for gene: COL5A1 were set to Complete
Review for gene: COL5A1 was set to GREEN
Added comment: I am not sure if the right panel to add this gene but it should be included in R27 due to severe EDS presenting in childhood - this also applies to COL5A2. We have reported a possible fetal case of EDS with multiple joint flexions on scan and a nonsense variant in COL5A1
Sources: NHS GMS
Monogenic hearing loss v4.57 RFC4 Achchuthan Shanmugasundram Classified gene: RFC4 as Amber List (moderate evidence)
Monogenic hearing loss v4.57 RFC4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with sensorineural hearing impairment. Hence, this gene should be promoted to green rating in the next GMS update.
Monogenic hearing loss v4.57 RFC4 Achchuthan Shanmugasundram Gene: rfc4 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.56 RFC4 Achchuthan Shanmugasundram gene: RFC4 was added
gene: RFC4 was added to Monogenic hearing loss. Sources: Literature
Q3_24_promote_green tags were added to gene: RFC4.
Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC4 were set to 39106866
Phenotypes for gene: RFC4 were set to sensorineural hearing loss disorder, MONDO:0020678
Review for gene: RFC4 was set to GREEN
Added comment: PMID:39106866 reported nine individuals (aged birth to 47 years) from eight unrelated families with a multisystem disorder.

They presented with muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9).

They were identified with biallelic loss-of-function variants in RFC4 gene (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions and 2 missense)

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Congenital myopathy v4.44 RFC4 Achchuthan Shanmugasundram Classified gene: RFC4 as Amber List (moderate evidence)
Congenital myopathy v4.44 RFC4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with congenital myopathy. Hence, this gene should be promoted to green rating in the next GMS update.
Congenital myopathy v4.44 RFC4 Achchuthan Shanmugasundram Gene: rfc4 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.43 RFC4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RFC4.
Congenital myopathy v4.43 RFC4 Achchuthan Shanmugasundram gene: RFC4 was added
gene: RFC4 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC4 were set to 39106866
Phenotypes for gene: RFC4 were set to congenital myopathy, MONDO:0019952
Review for gene: RFC4 was set to GREEN
Added comment: PMID:39106866 reported nine individuals (aged birth to 47 years) from eight unrelated families with a multisystem disorder.

They presented with muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9).

The age of onset of eight of nine individuals ranged from neonatal to childhood, while one individual had onset of symptoms in mid-30s.

They were identified with biallelic loss-of-function variants in RFC4 gene (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions and 2 missense)

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Hereditary neuropathy or pain disorder v5.71 FICD Achchuthan Shanmugasundram Classified gene: FICD as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.71 FICD Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families with the same homozygous variant and functional studies) for the association of this gene with green rating in the next GMS update.
Hereditary neuropathy or pain disorder v5.71 FICD Achchuthan Shanmugasundram Gene: ficd has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.70 FICD Achchuthan Shanmugasundram gene: FICD was added
gene: FICD was added to Hereditary neuropathy or pain disorder. Sources: Literature
Q3_24_promote_green tags were added to gene: FICD.
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, OMIM:620911
Review for gene: FICD was set to GREEN
Added comment: PMID:36136088 reported three unrelated families with recurrent homozygous missense variant in FICD gene (p.Arg374His) and the patients presented with a a neurodegenerative disease of upper and lower motor neurons. A patient from one further family was identified with compound heterozygous variants in FICD gene (p.Arg374His and p.Gly370GlufsTer53).

All these patients had onset of symptoms in childhood with progressive course. Their clinical manifestations included severe lower limb spasticity and mild upper limb spasticity. In addition, nerve conduction test showed motor neuropathy in the four patients with homozygous p.Arg374His variant, whereas this test was not done in the patient with compound heterozygous variants.

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

This gene has been associated with relevant phenotypes in OMIM (MIM #620911).
Sources: Literature
Childhood onset hereditary spastic paraplegia v6.9 FICD Achchuthan Shanmugasundram Classified gene: FICD as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v6.9 FICD Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated families and functional work) for the association of this gene with green rating on the next GMS update.
Childhood onset hereditary spastic paraplegia v6.9 FICD Achchuthan Shanmugasundram Gene: ficd has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v6.8 FICD Achchuthan Shanmugasundram gene: FICD was added
gene: FICD was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Q3_24_promote_green tags were added to gene: FICD.
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, OMIM:620911
Review for gene: FICD was set to GREEN
Added comment: PMID:36136088 reported three unrelated families with recurrent homozygous missense variant in FICD gene (p.Arg374His) and the patients presented with a a neurodegenerative disease of upper and lower motor neurons. A patient from one further family was identified with compound heterozygous variants in FICD gene (p.Arg374His and p.Gly370GlufsTer53).

All these patients had onset of symptoms in childhood with progressive course. Their clinical manifestations included severe lower limb spasticity and mild upper limb spasticity. In addition, nerve conduction test showed motor neuropathy.

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

This gene has been associated with relevant phenotypes in OMIM (MIM #620911).
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v6.5 FDXR Arina Puzriakova Classified gene: FDXR as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v6.5 FDXR Arina Puzriakova Gene: fdxr has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v6.4 FDXR Arina Puzriakova gene: FDXR was added
gene: FDXR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Q3_24_promote_green tags were added to gene: FDXR.
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 37046037
Phenotypes for gene: FDXR were set to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Review for gene: FDXR was set to GREEN
Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Review by Masnada et al (2023) of 44 individuals from 35 families reported in literature with FDXR variants revealed ataxia in more than 40% of patients. More complex cases also showed cerebellar atrophy/hypoplasia on neuroimaging (13.63%). In most cases neurological signs developed with progression of disease but presentation since clinical onset has also been described. Most common features include optic neuropathy (93.2%) and acoustic neuropathy (50%).
Sources: Literature
Mitochondrial disorders v7.5 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy 617717 to Auditory neuropathy and optic atrophy, OMIM:617717; Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Likely inborn error of metabolism v6.20 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy 617717 to Auditory neuropathy and optic atrophy, OMIM:617717; Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Possible mitochondrial disorder - nuclear genes v3.107 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, 617717 to Auditory neuropathy and optic atrophy, OMIM:617717; Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Monogenic hearing loss v4.55 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, OMIM:617717 to Auditory neuropathy and optic atrophy, OMIM:617717; Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Optic neuropathy v4.34 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, 617717 to Auditory neuropathy and optic atrophy, OMIM:617717; Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: FDXR.
Tag Q3_24_NHS_review tag was added to gene: FDXR.
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Classified gene: FDXR as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Review by Masnada et al (2023) of 44 individuals from 35 families reported in literature with FDXR variants revealed sensorimotor peripheral polyneuropathy in more than 20% of patients. In most cases peripheral neuropathy manifests in late stages of disease but presentation since clinical onset has also been described. Other common features include optic neuropathy (93.2%) and acoustic neuropathy (50%).
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Gene: fdxr has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.68 FDXR Arina Puzriakova Publications for gene: FDXR were set to 37046037: 30250212 :
Hereditary neuropathy or pain disorder v5.67 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from optic neuropathy; auditory neuropathy; peripheral neuropathy to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Deleted their comment
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Classified gene: EXOC6B as Amber List (moderate evidence)
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases and functional evidence) for the association of this gene with green rating on the next GMS update.
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Gene: exoc6b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Classified gene: EXOC6B as Amber List (moderate evidence)
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases and functional evidence) for the association of this gene with green rating on the next GMS update.
Skeletal dysplasia v6.27 EXOC6B Achchuthan Shanmugasundram Gene: exoc6b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.26 EXOC6B Achchuthan Shanmugasundram gene: EXOC6B was added
gene: EXOC6B was added to Skeletal dysplasia. Sources: Literature
Q3_24_promote_green tags were added to gene: EXOC6B.
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
Review for gene: EXOC6B was set to GREEN
Added comment: PMID:26669664 reported two brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. They were identified with a homozygous nonsense variant in EXOC6B gene (p.Tyr302Ter).

PMID:30284759 reported two sisters with dislocations of the hips and knees, long slender fingers with distal tapering and significant motor disability but normal (older sister) or low-normal intelligence (younger sister). They were identified with a homozygous in-frame deletion of exons 9-20 in EXOC6B gene.

PMID:36150098 reported two unrelated individuals with the same condition, Spondyloepimetaphyseal dysplasia with joint laxity, type 3. One of them was identified with a homozygous frameshift exon 20 deletion and the other with a homozygous nonsense variant (p.Leu134Ter). Functional studies on patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis.

This gene has been associated with relevant phenotypes in OMIM (MIM #618395), but not yet in Gene2Phenotype.
Sources: Literature
Hereditary neuropathy or pain disorder v5.66 EMILIN1 Arina Puzriakova changed review comment from: Comment on list classification: This is now sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated families reported with heterozygous variant in the EMILIN1 gene and neuropathy.

The third family includes a proband with childhood-onset sensory-motor neuropathy and pyramidal signs (ataxic-spastic gait). Sequencing revealed two heterozygous missense variants, c.544G>A and c.546G>C, which authors renamed as c.544_546GAG>AAC (p.E182N) as the variants were in cis and located at the same protein residue. The proband's mother, carrying the same variant, presented with a milder peripheral nerve disorder, hypermobility of joints and ligamentous laxity, and moderate inflammatory arthropathy.; to: Comment on list classification: This is now sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated families reported with heterozygous variant in the EMILIN1 gene and neuropathy.

The third family (PMID:38963291) includes a proband with childhood-onset sensory-motor neuropathy and pyramidal signs (ataxic-spastic gait). Sequencing revealed two heterozygous missense variants, c.544G>A and c.546G>C, which authors renamed as c.544_546GAG>AAC (p.E182N) as the variants were in cis and located at the same protein residue. The proband's mother, carrying the same variant, presented with a milder peripheral nerve disorder, hypermobility of joints and ligamentous laxity, and moderate inflammatory arthropathy.
Hereditary neuropathy or pain disorder v5.66 EMILIN1 Arina Puzriakova Classified gene: EMILIN1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.66 EMILIN1 Arina Puzriakova Added comment: Comment on list classification: This is now sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated families reported with heterozygous variant in the EMILIN1 gene and neuropathy.

The third family includes a proband with childhood-onset sensory-motor neuropathy and pyramidal signs (ataxic-spastic gait). Sequencing revealed two heterozygous missense variants, c.544G>A and c.546G>C, which authors renamed as c.544_546GAG>AAC (p.E182N) as the variants were in cis and located at the same protein residue. The proband's mother, carrying the same variant, presented with a milder peripheral nerve disorder, hypermobility of joints and ligamentous laxity, and moderate inflammatory arthropathy.
Hereditary neuropathy or pain disorder v5.66 EMILIN1 Arina Puzriakova Gene: emilin1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.65 EMILIN1 Arina Puzriakova Publications for gene: EMILIN1 were set to 31978608; 26462740
Hereditary neuropathy or pain disorder v5.64 EMILIN1 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: EMILIN1.
Tag Q3_24_NHS_review tag was added to gene: EMILIN1.
Skeletal dysplasia v6.25 BGN Achchuthan Shanmugasundram Classified gene: BGN as Amber List (moderate evidence)
Skeletal dysplasia v6.25 BGN Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating on the next GMS update.
Skeletal dysplasia v6.25 BGN Achchuthan Shanmugasundram Gene: bgn has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.24 BGN Achchuthan Shanmugasundram Phenotypes for gene: BGN were changed from Skeletal dysplasia; Spondyloepimetaphyseal dysplasia to Spondyloepimetaphyseal dysplasia, X-linked, OMIM:300106
Skeletal dysplasia v6.24 BGN Achchuthan Shanmugasundram Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v6.23 BGN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BGN.
Tag Q3_24_NHS_review tag was added to gene: BGN.
Skeletal dysplasia v6.23 BGN Achchuthan Shanmugasundram reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236923; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, OMIM:300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v7.63 DDX17 Achchuthan Shanmugasundram Classified gene: DDX17 as Amber List (moderate evidence)
Intellectual disability v7.63 DDX17 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v7.63 DDX17 Achchuthan Shanmugasundram Gene: ddx17 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.62 DDX17 Achchuthan Shanmugasundram Phenotypes for gene: DDX17 were changed from Intellectual disability; delayed speech and language; motor delay to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.62 DDX17 Achchuthan Shanmugasundram Publications for gene: DDX17 were set to PMID: 39405200
Intellectual disability v7.61 DDX17 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DDX17.
Tag Q3_24_NHS_review tag was added to gene: DDX17.
Intellectual disability v7.61 DDX17 Achchuthan Shanmugasundram reviewed gene: DDX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 39405200; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Classified gene: AJAP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Early onset or syndromic epilepsy v6.14 AJAP1 Achchuthan Shanmugasundram Gene: ajap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.13 AJAP1 Achchuthan Shanmugasundram Phenotypes for gene: AJAP1 were changed from Epileptic seizures; developmental disorder; intellectual disability to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.12 AJAP1 Achchuthan Shanmugasundram Publications for gene: AJAP1 were set to 38985877
Early onset or syndromic epilepsy v6.12 AJAP1 Achchuthan Shanmugasundram Publications for gene: AJAP1 were set to PMID: 38985877
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AJAP1.
Tag Q3_24_NHS_review tag was added to gene: AJAP1.
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram edited their review of gene: AJAP1: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, there are five unrelated individuals reported with monoallelic variants or a deletion in AJAP1 gene, of which four patients presented with epilepsy.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: As reviewed by Hannah Knight, PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene, of which four patients presented with epilepsy.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Early onset or syndromic epilepsy v6.11 AJAP1 Achchuthan Shanmugasundram reviewed gene: AJAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38985877; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.64 AP5Z1 Sarah Leigh Phenotypes for gene: AP5Z1 were changed from spasticity; ataxia; retinopathy; neuropathy; parkinsonism to Spastic paraplegia 48, autosomal recessive, OMIM:613647; hereditary spastic paraplegia 48, MONDO:0013342
Hereditary neuropathy or pain disorder v5.63 AP5Z1 Sarah Leigh Classified gene: AP5Z1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.63 AP5Z1 Sarah Leigh Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.62 AMPD2 Sarah Leigh reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.62 AMPD2 Sarah Leigh Phenotypes for gene: AMPD2 were changed from pontocerebellar hypoplasia, axonal neuropathy, to Pontocerebellar hypoplasia, type 9, OMIM:615809; pontocerebellar hypoplasia type 9, MONDO:0014351
Hereditary neuropathy or pain disorder v5.61 AMPD2 Sarah Leigh Classified gene: AMPD2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.61 AMPD2 Sarah Leigh Gene: ampd2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.60 AMACR Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AMACR.
Tag Q3_24_NHS_review tag was added to gene: AMACR.
Hereditary neuropathy or pain disorder v5.60 AMACR Sarah Leigh reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.60 AMACR Sarah Leigh Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455
Hereditary neuropathy or pain disorder v5.59 AMACR Sarah Leigh Phenotypes for gene: AMACR were changed from cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa to Alpha-methylacyl-CoA racemase deficiency, OMIM:614307; alpha-methylacyl-CoA racemase deficiency, MONDO:0013681
Hereditary neuropathy or pain disorder v5.58 AMACR Sarah Leigh Classified gene: AMACR as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.58 AMACR Sarah Leigh Gene: amacr has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.57 ALDH18A1 Sarah Leigh reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.57 ALDH18A1 Sarah Leigh Classified gene: ALDH18A1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.57 ALDH18A1 Sarah Leigh Gene: aldh18a1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.56 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from spastic paraplegia; cognitive impairment; motor neuronopathy to Spastic paraplegia 9A, autosomal dominant, OMIM:601162; hereditary spastic paraplegia 9A, MONDO:0011006; Spastic paraplegia 9B, autosomal recessive, OMIM:616586; autosomal recessive complex spastic paraplegia type 9B, MONDO:0014702
Hereditary neuropathy or pain disorder v5.55 ALDH18A1 Sarah Leigh Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143
Hereditary neuropathy or pain disorder v5.54 AFG3L2 Sarah Leigh reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.54 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12,OMIM; 618977; Spastic ataxia 5, autosomal recessive, OMIM:614487 to Spastic ataxia 5, autosomal recessive, OMIM:614487
Hereditary neuropathy or pain disorder v5.53 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy to Optic atrophy 12,OMIM; 618977; Spastic ataxia 5, autosomal recessive, OMIM:614487
Hereditary neuropathy or pain disorder v5.52 AFG3L2 Sarah Leigh Publications for gene: AFG3L2 were set to 22022284:
Hereditary neuropathy or pain disorder v5.51 AFG3L2 Sarah Leigh Classified gene: AFG3L2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.51 AFG3L2 Sarah Leigh Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.50 ADPRHL2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADPRHL2.
Tag Q3_24_NHS_review tag was added to gene: ADPRHL2.
Hereditary neuropathy or pain disorder v5.50 ADPRHL2 Sarah Leigh reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.50 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MONDO:0100095
Hereditary neuropathy or pain disorder v5.49 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to 30401461: 30100084
Hereditary neuropathy or pain disorder v5.48 ADPRHL2 Sarah Leigh Classified gene: ADPRHL2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.48 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.47 ADGRG6 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADGRG6.
Tag Q3_24_NHS_review tag was added to gene: ADGRG6.
Hereditary neuropathy or pain disorder v5.47 ADGRG6 Sarah Leigh reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.47 ADGRG6 Sarah Leigh Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9, OMIM:616503 to Lethal congenital contracture syndrome 9, OMIM:616503; lethal congenital contracture syndrome 9, MONDO:0014670
Hereditary neuropathy or pain disorder v5.46 ADGRG6 Sarah Leigh Phenotypes for gene: ADGRG6 were changed from lethal congenital contracture syndrome; lack of peripheral myelination to Lethal congenital contracture syndrome 9, OMIM:616503
Hereditary neuropathy or pain disorder v5.45 ADGRG6 Sarah Leigh Classified gene: ADGRG6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.45 ADGRG6 Sarah Leigh Gene: adgrg6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.44 ADCY6 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADCY6.
Tag Q3_24_NHS_review tag was added to gene: ADCY6.
Hereditary neuropathy or pain disorder v5.44 ADCY6 Sarah Leigh reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.44 ADCY6 Sarah Leigh Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099
Hereditary neuropathy or pain disorder v5.43 ADCY6 Sarah Leigh Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM:616287 to Lethal congenital contracture syndrome 8, OMIM:616287; lethal congenital contracture syndrome 8, MONDO:0014570
Hereditary neuropathy or pain disorder v5.42 ADCY6 Sarah Leigh Phenotypes for gene: ADCY6 were changed from lethal congenital contracture syndrome; loss of axons to Lethal congenital contracture syndrome 8, OMIM:616287
Hereditary neuropathy or pain disorder v5.41 ADCY6 Sarah Leigh Classified gene: ADCY6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.41 ADCY6 Sarah Leigh Gene: adcy6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.40 ADA2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADA2.
Tag Q3_24_NHS_review tag was added to gene: ADA2.
Hereditary neuropathy or pain disorder v5.40 ADA2 Sarah Leigh reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.40 ADA2 Sarah Leigh Phenotypes for gene: ADA2 were changed from VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; vasculitis due to ADA2 deficiency, MONDO:0014306
Hereditary neuropathy or pain disorder v5.39 ADA2 Sarah Leigh Classified gene: ADA2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.39 ADA2 Sarah Leigh Gene: ada2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ABCD1.
Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24480483, 7904210, 7811247, 8535452, 8566952; Phenotypes: Adrenoleukodystrophy, OMIM:300100, Adrenomyeloneuropathy, adult, OMIM:300100, adrenoleukodystrophy, MONDO:0018544; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh Classified gene: ABCD1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.38 ABCD1 Sarah Leigh Gene: abcd1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.37 ATXN10_ATTCT Sarah Leigh Tag STR tag was added to STR: ATXN10_ATTCT.
Hereditary neuropathy or pain disorder v5.37 ATXN7_CAG Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 7, OMIM:164500
Hereditary neuropathy or pain disorder v5.36 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.36 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.35 ATXN7_CAG Sarah Leigh STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN7_CAG was set to GREEN
Added comment: ATXN7_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.34 ATXN3_CAG Sarah Leigh Gene was set to ATXN3.
Hereditary neuropathy or pain disorder v5.33 ATXN3_CAG Sarah Leigh Phenotypes for STR: ATXN3_CAG were changed from Ataxia neuropathy syndromes to Machado-Joseph disease, OMIM:109150
Hereditary neuropathy or pain disorder v5.32 ATXN3_CAG Sarah Leigh Classified STR: ATXN3_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.32 ATXN3_CAG Sarah Leigh Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.31 ATXN3_CAG Sarah Leigh STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN3_CAG was set to GREEN
Added comment: ATXN3_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.30 ATXN2_CAG Sarah Leigh Phenotypes for STR: ATXN2_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 2, OMIM:183090
Hereditary neuropathy or pain disorder v5.29 ATXN2_CAG Sarah Leigh Classified STR: ATXN2_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.29 ATXN2_CAG Sarah Leigh Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.28 ATXN2_CAG Sarah Leigh STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN2_CAG was set to GREEN
Added comment: ATXN2_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.27 ATXN10_ATTCT Sarah Leigh Phenotypes for STR: ATXN10_ATTCT were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 10, OMIM:603516
Hereditary neuropathy or pain disorder v5.26 ATXN10_ATTCT Sarah Leigh Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.26 ATXN10_ATTCT Sarah Leigh Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.25 ATXN10_ATTCT Sarah Leigh edited their review of STR: ATXN10_ATTCT: Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.25 ATXN10_ATTCT Sarah Leigh edited their review of STR: ATXN10_ATTCT: Changed rating: AMBER
Hereditary neuropathy or pain disorder v5.25 ATXN10_ATTCT Sarah Leigh STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Ataxia neuropathy syndromes
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: ATXN10_ATTCT has been added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Tag Q3_24_NHS_review tag was added to STR: ATXN1_CAG.
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Tag Q3_24_promote_green tag was added to STR: ATXN1_CAG.
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh reviewed STR: ATXN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia neuropathy syndromes; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Classified STR: ATXN1_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.24 ATXN1_CAG Sarah Leigh Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.23 ATXN1_CAG Sarah Leigh Entity copied from Hereditary neuropathy v1.489
Hereditary neuropathy or pain disorder v5.23 ATXN1_CAG Sarah Leigh STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Green,NHS GMS
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1, OMIM:164400
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh edited their review of STR: FGF14_GAA: Added comment: FGF14_GAA added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.22 FMR1_CGG Sarah Leigh changed review comment from: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; to: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh Classified STR: FGF14_GAA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh Added comment: Comment on list classification: FGF14_GAA is not currently reportable, as the coordinates are not present on the analysis pipeline.
Hereditary neuropathy or pain disorder v5.22 FGF14_GAA Sarah Leigh Str: fgf14_gaa has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v6.7 FGF14_GAA Sarah Leigh reviewed STR: FGF14_GAA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.21 FGF14_GAA Sarah Leigh Entity copied from Hereditary ataxia with onset in adulthood v6.7
Hereditary neuropathy or pain disorder v5.21 FGF14_GAA Sarah Leigh STR: FGF14_GAA was added
STR: FGF14_GAA was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Amber
watchlist tags were added to STR: FGF14_GAA.
Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FGF14_GAA were set to 36516086; 36493768; 37267898
Phenotypes for STR: FGF14_GAA were set to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Penetrance for STR: FGF14_GAA were set to Complete
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FMR1_CGG.
Tag Q3_24_NHS_review tag was added to STR: FMR1_CGG.
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh edited their review of STR: FMR1_CGG: Added comment: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh Entity copied from Hereditary neuropathy v1.489
Hereditary neuropathy or pain disorder v5.20 FMR1_CGG Sarah Leigh STR: FMR1_CGG was added
STR: FMR1_CGG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review
STR tags were added to STR: FMR1_CGG.
Mode of inheritance for STR: FMR1_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for STR: FMR1_CGG were set to 26212380
Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
Arthrogryposis v7.5 MET Dmitrijs Rots gene: MET was added
gene: MET was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to PMID: 38429387; 30777867
Phenotypes for gene: MET were set to Arthrogryposis
Penetrance for gene: MET were set to unknown
Mode of pathogenicity for gene: MET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MET was set to GREEN
Added comment: Reported a second family case in PMID: 38429387 after PMID: 30777867 with functional evidence in 30777867.
Sources: Literature
CAKUT v1.178 TSHZ3 Dmitrijs Rots reviewed gene: TSHZ3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39420202; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.19 ZFYVE26 Alexander Rossor edited their review of gene: ZFYVE26: Added comment: phenotypically similar to SPG11; Changed publications to: 26492578:27217339: 24833714
Hereditary neuropathy or pain disorder v5.19 XPA Alexander Rossor edited their review of gene: XPA: Added comment: PN seems otbe mostly associated with XPA- Aditional paper attached. Now that R78 inlcudes complex phenotypes should be included; Changed publications to: 2168777: 34627174
Hereditary neuropathy or pain disorder v5.19 TWNK Alexander Rossor edited their review of gene: TWNK: Added comment: Multiple reports of variants cuasing peripheral neuropathy and should be included in R78; Changed publications to: 37932750: 32281099: 32234020: 24061067: 20880070 :
Hereditary neuropathy or pain disorder v5.19 TUBB3 Alexander Rossor edited their review of gene: TUBB3: Added comment: multiple affected individuals - unrelated - should be includedin R78 now that includes complex phenotypes; Changed publications to: 34652576 : 25482575; Changed phenotypes to: ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life
Hereditary neuropathy or pain disorder v5.19 TTPA Alexander Rossor edited their review of gene: TTPA: Added comment: Eripheral neuropathy well established part of this complex phenotype. Now that R78 inlcudes complex phenotypes this gene should be included; Changed publications to: 24369383
Hereditary neuropathy or pain disorder v5.19 SPAST Alexander Rossor commented on gene: SPAST: 23% have peripheralneuropathy and should therefore be inlcuded in R78 as this now includes complex phenotypes
Hereditary neuropathy or pain disorder v5.19 SOX10 Alexander Rossor edited their review of gene: SOX10: Added comment: now that r78 inclues complex phenotpyes should presumably be included; Changed publications to: 32150337: 29681101: 28328136
Hereditary neuropathy or pain disorder v5.19 PTRH2 Alexander Rossor edited their review of gene: PTRH2: Added comment: Peripheral neuropathy now reportedin multiple unrelated individuals and can be a presenting feature. Shouldbe green and in R78 panel; Changed rating: GREEN; Changed publications to: 25572476, 25558065: 28328138: 31057140: 27129381: 39176129: 38874107
Hereditary neuropathy or pain disorder v5.19 PRNP Alexander Rossor edited their review of gene: PRNP: Added comment: peripheral neuropathy reported as rare presentation of cjd in multiple individuals; Changed publications to: 27716661 : 24224623 : 26768678: 31953922; Changed phenotypes to: cjd, dementia, autonomic neuropathy, sensory neuropathy
Hereditary neuropathy or pain disorder v5.19 POLG Alexander Rossor edited their review of gene: POLG: Added comment: Now R78 includes complex phenotypes this needs to be included as PN well established in POLG disease; Changed publications to: 36703500 : 33791913: 25281868: 38975049; Changed phenotypes to: peripheral neuropathy, CPEO
Hereditary neuropathy or pain disorder v5.19 PHYH Alexander Rossor edited their review of gene: PHYH: Added comment: Refsums disease is a well established (historical) cause of peripheral neuropathy. It is treatable and has to be included in the R78 panel now that it includes complex phenotypes; Changed publications to: 9326940; Changed phenotypes to: Refsums diseasd; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 PDHA1 Alexander Rossor edited their review of gene: PDHA1: Added comment: PN in multiple unrelated individuals and therefore should be includedin R78 panel; Changed rating: GREEN; Changed publications to: 38497591: 36693417: 20002125; Changed phenotypes to: peripheral neuropathy, Leigh syndrome
Hereditary neuropathy or pain disorder v5.19 OPA3 Alexander Rossor edited their review of gene: OPA3: Added comment: Peripehral neuropathy reported in multiple unrelated individuals and should be included in panel; Changed publications to: 28050599: 21036400 : 31119193:
Hereditary neuropathy or pain disorder v5.19 NUDT2 Alexander Rossor edited their review of gene: NUDT2: Added comment: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel; Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.19 NUDT2 Alexander Rossor changed review comment from: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel; to: Recent publication attached showing peripheral neuropathy in several new unrelated individuals so should therefore be green and included in panel
Hereditary neuropathy or pain disorder v5.19 NUDT2 Alexander Rossor reviewed gene: NUDT2: Rating: ; Mode of pathogenicity: None; Publications: 38141063; Phenotypes: developmental delay, neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 HADHB Alexander Rossor edited their review of gene: HADHB: Added comment: PN well established part of phenotype. Multiple affected families. Now R78 includes complex phenotypes should be included; Changed publications to: 3744096: 28685493: 31521624: 24664533: 28649548: 35235001 : 37388542; Changed phenotypes to: rhabdomyloysis, hypoparathyroidism, peripheral neuropathy
Hereditary neuropathy or pain disorder v5.19 HADHA Alexander Rossor edited their review of gene: HADHA: Added comment: trifucnctional protein deificeincy, inlcudes peripheral neuropathy. NOw R78 includes complex phenotypes should be included; Changed publications to: 23868323: 28132977: 32897397; Changed phenotypes to: rhabdomyloysis, peripheral neuropathy
Hereditary neuropathy or pain disorder v5.19 GLA Alexander Rossor edited their review of gene: GLA: Added comment: small fibren europathy established feature of Fabrys; Changed publications to: 22428782; Changed phenotypes to: small fibre neuropathy, strokes, cardiomyopathy, skin disease
Hereditary neuropathy or pain disorder v5.19 FLVCR1 Alexander Rossor edited their review of gene: FLVCR1: Added comment: Multiple additional reports of association with neuropathy. Now R78 includes complex phenotypes should be included; Changed publications to: 21070897: 38405817: 32822874: 28766925: 37469134:
Hereditary neuropathy or pain disorder v5.19 FAM126A Alexander Rossor edited their review of gene: FAM126A: Added comment: Multiple unrelated patients with peripheralneuropathy. Now that R78 includes complex phneotypes needs to be included; Changed publications to: 16951682: 23998934: 21911699: 33531944: 22749724:
Hereditary neuropathy or pain disorder v5.19 FAH Alexander Rossor edited their review of gene: FAH: Added comment: Complex phneotypes now included in R78, reference of 25 patients inlcuded; Changed publications to: 33598652
Hereditary neuropathy or pain disorder v5.19 ETFDH Alexander Rossor edited their review of gene: ETFDH: Added comment: multiple families with neuropathy as part of syndrome, Now R78 includes complex phenotypes should be included; Changed publications to: 32608139: 26821934: 0587156
Hereditary neuropathy or pain disorder v5.19 ERCC8 Alexander Rossor edited their review of gene: ERCC8: Added comment: now that R78 includes complex phenotypes sould be included; Changed publications to: 25453614
Hereditary neuropathy or pain disorder v5.19 ERCC6 Alexander Rossor edited their review of gene: ERCC6: Added comment: now that R78 includes complex pheotypes should be included; Changed publications to: 25453614
Hereditary neuropathy or pain disorder v5.19 EMILIN1 Alexander Rossor reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38963291; Phenotypes: peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 DSTYK Alexander Rossor reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: spastic paraplegia, peripheral neuropathy, grey hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 DHTKD1 Alexander Rossor commented on gene: DHTKD1: I think this gene should be removed from the panel. The original chinese family reported a lof het allele. LOF is not constrained in DHTKD!, more so recessive LOF variants in DHTKD1 cause Alpha-aminoadipic and alpha-ketoadipic aciduria and these patients do not have a peripheral neuropathy
Hereditary neuropathy or pain disorder v5.19 DARS2 Alexander Rossor edited their review of gene: DARS2: Added comment: Multiple additional unrelated individuals with variants in DARS2 and peripheral neuropathy - should now be green; Changed publications to: 28334938: 38790244: 22677571: 38549004; Changed phenotypes to: Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary neuropathy or pain disorder v5.19 CTDP1 Alexander Rossor reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10439962: 29174527: 21824574; Phenotypes: cataratcs, facial dysmorphism, peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 CTDP1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 COA7 Alexander Rossor edited their review of gene: COA7: Added comment: Multiple additional cases now reported with peripheral neuropathy - should be green and on panle now that R78 includes complex phenotypes; Changed publications to: 29718187: 37264311: 35603692: 27683825
Hereditary neuropathy or pain disorder v5.19 CNTNAP1 Alexander Rossor edited their review of gene: CNTNAP1: Added comment: Multiple affected individuals. Now that R78 panel includes complex phenotypes should be green and on panel; Changed publications to: 28374019: 29511323: 27668699: 27782105:; Changed phenotypes to: arthrogryposis, developmental dleay, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 CD59 Alexander Rossor edited their review of gene: CD59: Added comment: No wthat the R78 panel includes complex phenotypees with peripheral neuropathy this should now be included in the R78 panel; Changed publications to: 23149847, 24382084
Hereditary neuropathy or pain disorder v5.19 C12orf65 Alexander Rossor edited their review of gene: C12orf65: Added comment: PN in multiple affected individuals from different families; Changed rating: GREEN; Changed publications to: 24080142: 23188110: 6303658: 24424123: 24198383; Changed phenotypes to: optic atrophy, spasticity, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 C12orf65 Alexander Rossor Deleted their comment
Hereditary neuropathy or pain disorder v5.19 BAG3 Alexander Rossor edited their review of gene: BAG3: Added comment: Further reports in assocation with PN since my last review, should now be green; Changed publications to: 30145633: 37989284: 37907725; Changed phenotypes to: cardiomyopathy, polyneuropathy
Hereditary neuropathy or pain disorder v5.19 AP1S1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 VPS13D Alexander Rossor gene: VPS13D was added
gene: VPS13D was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29518281: 29604224: 14681893: 11960835
Phenotypes for gene: VPS13D were set to ataxia; spasticity; peripheral neuropathy
Penetrance for gene: VPS13D were set to Complete
Review for gene: VPS13D was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 UQCRC1 Alexander Rossor gene: UQCRC1 was added
gene: UQCRC1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UQCRC1 were set to 33141179
Phenotypes for gene: UQCRC1 were set to parkinsonism; peripheral neuropathy
Penetrance for gene: UQCRC1 were set to Complete
Review for gene: UQCRC1 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 UCHL1 Alexander Rossor gene: UCHL1 was added
gene: UCHL1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UCHL1 were set to 35986737
Phenotypes for gene: UCHL1 were set to spasticity; ataxia; peripheral neuropathy
Penetrance for gene: UCHL1 were set to Complete
Hereditary neuropathy or pain disorder v5.19 TRMT5 Alexander Rossor gene: TRMT5 was added
gene: TRMT5 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354
Phenotypes for gene: TRMT5 were set to develomental delay; spasticity; peripheral neuropathy
Penetrance for gene: TRMT5 were set to Complete
Review for gene: TRMT5 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 TBCE Alexander Rossor gene: TBCE was added
gene: TBCE was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 27666369
Phenotypes for gene: TBCE were set to encephalopathy; peripheral neuropathy
Penetrance for gene: TBCE were set to Complete
Review for gene: TBCE was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 SLC13A3 Alexander Rossor gene: SLC13A3 was added
gene: SLC13A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to 37290914
Phenotypes for gene: SLC13A3 were set to acute neuropathy
Penetrance for gene: SLC13A3 were set to Complete
Review for gene: SLC13A3 was set to AMBER
Added comment: one patient with neuropathy in literature
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 SAMD9L Alexander Rossor gene: SAMD9L was added
gene: SAMD9L was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia
Phenotypes for gene: SAMD9L were set to 32808377: 36553623 : 31053103: 27259050: 28202457
Penetrance for gene: SAMD9L were set to Complete
Review for gene: SAMD9L was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PNPT1 Alexander Rossor gene: PNPT1 was added
gene: PNPT1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PNPT1 were set to 35411967: 14705117
Phenotypes for gene: PNPT1 were set to ataxia; peripheral neuropathy
Penetrance for gene: PNPT1 were set to Complete
Review for gene: PNPT1 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PLAA Alexander Rossor gene: PLAA was added
gene: PLAA was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLAA were set to 37919452
Phenotypes for gene: PLAA were set to lipodystrophy; peripheral neuropathy
Penetrance for gene: PLAA were set to Complete
Review for gene: PLAA was set to GREEN
Added comment: gene is PLAAT3
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PLA2G6 Alexander Rossor gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 18443314: 16783378:
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation; peripheral neuropathy
Penetrance for gene: PLA2G6 were set to Complete
Review for gene: PLA2G6 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 PIEZO2 Alexander Rossor gene: PIEZO2 was added
gene: PIEZO2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO2 were set to 27653382
Phenotypes for gene: PIEZO2 were set to arthrodryposis; sensory neuropathy
Penetrance for gene: PIEZO2 were set to Complete
Review for gene: PIEZO2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NOP56 Alexander Rossor gene: NOP56 was added
gene: NOP56 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOP56 were set to 22492559: 22744658: 21683323
Phenotypes for gene: NOP56 were set to ataxia; motor neuropathy
Penetrance for gene: NOP56 were set to Complete
Review for gene: NOP56 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NFASC Alexander Rossor gene: NFASC was added
gene: NFASC was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 30850329: 30124836
Phenotypes for gene: NFASC were set to Developmental delay; peripheral neuropathy
Penetrance for gene: NFASC were set to Complete
Review for gene: NFASC was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NDUFS6 Alexander Rossor gene: NDUFS6 was added
gene: NDUFS6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS6 were set to 38459834 : 38549004
Phenotypes for gene: NDUFS6 were set to peripheral neuropathy; nystagmus
Penetrance for gene: NDUFS6 were set to Complete
Review for gene: NDUFS6 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 NARS Alexander Rossor gene: NARS was added
gene: NARS was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225:
Phenotypes for gene: NARS were set to developmental delay; seizures; peripheral neuropathy
Penetrance for gene: NARS were set to Complete
Review for gene: NARS was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 MAPK8IP3 Alexander Rossor gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: MAPK8IP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAPK8IP3 were set to 37462082: 30945334
Phenotypes for gene: MAPK8IP3 were set to developmental delay; motor axonal neuropathy
Penetrance for gene: MAPK8IP3 were set to Complete
Review for gene: MAPK8IP3 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 HPDL Alexander Rossor gene: HPDL was added
gene: HPDL was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to developmental delay; spastic paraplegia; peripheral neuropathy
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: 3 had peripheral neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 FDXR Alexander Rossor gene: FDXR was added
gene: FDXR was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 37046037: 30250212 :
Phenotypes for gene: FDXR were set to optic neuropathy; auditory neuropathy; peripheral neuropathy
Penetrance for gene: FDXR were set to Complete
Review for gene: FDXR was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 FA2H Alexander Rossor edited their review of gene: FA2H: Added comment: peripheral neuropathy now reportedin 3 additional patients; Changed rating: GREEN; Changed publications to: 22146942:31135052
Hereditary neuropathy or pain disorder v5.19 EXOSC3 Alexander Rossor gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734
Phenotypes for gene: EXOSC3 were set to pontocerebellar hypoplasia; motor neuropathy
Penetrance for gene: EXOSC3 were set to Complete
Review for gene: EXOSC3 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 MFF Alexander Rossor gene: MFF was added
gene: MFF was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to 26783368
Phenotypes for gene: MFF were set to encephalopathy; developmental delay; peripheral neuropathy in some
Penetrance for gene: MFF were set to Complete
Review for gene: MFF was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 DMXL2 Alexander Rossor gene: DMXL2 was added
gene: DMXL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942
Phenotypes for gene: DMXL2 were set to developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features
Penetrance for gene: DMXL2 were set to Complete
Review for gene: DMXL2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 CYP2U1 Alexander Rossor gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 23176821
Phenotypes for gene: CYP2U1 were set to spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy
Penetrance for gene: CYP2U1 were set to Complete
Review for gene: CYP2U1 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 CLP1 Alexander Rossor gene: CLP1 was added
gene: CLP1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were set to pontocerbeelar hypoplasia, peripheral neuropathy
Penetrance for gene: CLP1 were set to Complete
Review for gene: CLP1 was set to GREEN
Added comment: Multiple affected individuals with peripheral neuropathy on ncs
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 CAPN1 Alexander Rossor gene: CAPN1 was added
gene: CAPN1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN1 were set to 27153400
Phenotypes for gene: CAPN1 were set to spasticity; pes cavus; peripheral neuropathy
Penetrance for gene: CAPN1 were set to Complete
Review for gene: CAPN1 was set to GREEN
Added comment: 3 families
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 DSTYK Alexander Rossor Deleted their review
Intellectual disability v7.61 KIF5B Tracy Lester gene: KIF5B was added
gene: KIF5B was added to Intellectual disability. Sources: NHS GMS
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to kyphomelic dysplasia; hypotonia; developmental delay; intellectual disability
Penetrance for gene: KIF5B were set to unknown
Review for gene: KIF5B was set to AMBER
Added comment: PMID: 35342932 - 3 de novo missense variants reported in 4 subjects with a syndromic skeletal disorder characterized by kyphomelic dysplasia, hypotonia and DD/ID
PMID: 36018820 - 3 more missense variants reported in individuals with a clinically wide phenotypic spectrum ranging from dilated cardiomyopathy with adult-onset ophthalmoplegia and progressive skeletal myopathy to a neurodevelopmental condition characterized by severe hypotonia with or without seizures. In vitro and in vivo analyses provide evidence that the identified disease-associated KIF5B variants disrupt lysosomal, autophagosome and mitochondrial organization, and impact cilium biogenesis. All variants, and one of the previously reported missense changes, were shown to affect multiple developmental processes in zebrafish.
Sources: NHS GMS
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 TRAF3 Dmitrijs Rots reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35960817; Phenotypes: Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GNAI2 Dmitrijs Rots gene: GNAI2 was added
gene: GNAI2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to PMID: 39298586
Phenotypes for gene: GNAI2 were set to Immunodefficiency with multisystemic presentation
Penetrance for gene: GNAI2 were set to unknown
Mode of pathogenicity for gene: GNAI2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added comment: PMID: 39298586 showed 20 case with "multiorgan dysfunction, with a spectrum of birth defects involving brain, endocrine, skeletal, and other systems. Prominent immune dysregulation resulted from increased infection susceptibility—caused by impaired GPCR signaling for migration of T cells and neutrophils—and life-threatening autoimmunity with T cell hyperresponsiveness." and functional work.
Sources: Literature
Intellectual disability v7.61 GNAI2 Dmitrijs Rots reviewed gene: GNAI2: 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: 39298586; Phenotypes: Immunodefficiency with multisystemic presentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.11 AJAP1 Hannah Knight gene: AJAP1 was added
gene: AJAP1 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to PMID: 38985877
Phenotypes for gene: AJAP1 were set to Epileptic seizures; developmental disorder; intellectual disability
Review for gene: AJAP1 was set to GREEN
Added comment: PMID: 38985877 (2024) identified five individuals with monoallelic variants or a deletion in AJAP1, who present with epilepsy, neurodevelopmental problems, or intellectual disability
Also included functional work
Sources: Literature
Monogenic hearing loss v4.54 PLCG1 Hannah Knight gene: PLCG1 was added
gene: PLCG1 was added to Monogenic hearing loss. Sources: Literature
Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG1 were set to PMID: 38260438
Phenotypes for gene: PLCG1 were set to hearing impairment; ophthalmologic abnormalities; cardiac septal defects
Review for gene: PLCG1 was set to AMBER
Added comment: Limited case info in preprint, but PMID: 38260438 (2024) reported three unrelated individuals with de novo heterozygous missense variants in PLCG1, with symptoms including deafness, ophthalmologic abnormalities, cardiac septal defects, abnormal brain MRI and immune defects
Sources: Literature
Skeletal dysplasia v6.23 TOMM7 Hannah Knight gene: TOMM7 was added
gene: TOMM7 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome; dwarfism; mandibular hypoplasia; microphthalmia; hyperopia; partial lipodystrophy
Review for gene: TOMM7 was set to AMBER
Added comment: PMID: 36282599 (2022) reported a homozygous missense variant in TOMM7 (P29L) in a patient with short stature, dysmorphisms, poor vision, and significant learning disabilities
PMID: 36299998 (2023) reported a homozygous missense variant in TOMM7 (W25R) in a patient with short stature and growth failure

In both cases, parents were tested and found to be heterozygous for the same variant
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 COPA Dmitrijs Rots reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38175705; Phenotypes: a complex autoinflammatory syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v4.33 MIEF1 Hannah Knight gene: MIEF1 was added
gene: MIEF1 was added to Optic neuropathy. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIEF1 were set to PMID: 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269 (2021) reported two unrelated women with late-onset optic neuropathy, with heterozygous missense mutations in the MIEF1 gene (Y240N and R146W)
Sources: Literature
Skeletal dysplasia v6.23 BGN Tracy Lester gene: BGN was added
gene: BGN was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to Skeletal dysplasia; Spondyloepimetaphyseal dysplasia
Penetrance for gene: BGN were set to unknown
Review for gene: BGN was set to GREEN
Added comment: Cho et al report on finding missense variants in 3 families with SEMD segregating in an XLR pattern.
'Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-β) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-β. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define “XLR SEMD, BGN type” as a nosologic entity.'
Sources: NHS GMS
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3AP5 Dmitrijs Rots Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3AP5 Dmitrijs Rots Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3A Dmitrijs Rots gene: GTF3A was added
gene: GTF3A was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3A were set to PMID: 36399538
Phenotypes for gene: GTF3A were set to CVID with HSV encephalitis
Review for gene: GTF3A was set to AMBER
Added comment: PMID: 36399538 describe a case with CVID and HSV encephalitis with functional work. More cases are presented at ESID 2024 (unpublished yet).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 GTF3AP5 Dmitrijs Rots gene: GTF3AP5 was added
gene: GTF3AP5 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GTF3AP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3AP5 were set to PMID: 36399538
Phenotypes for gene: GTF3AP5 were set to PID
Review for gene: GTF3AP5 was set to AMBER
Added comment: PMID: 36399538 describe a case with CVID and HSV encephalitis with functional work. More cases are presented at ESID 2024 (unpublished yet).
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 REXO2 Dmitrijs Rots gene: REXO2 was added
gene: REXO2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REXO2 were set to PMID: 39107301
Penetrance for gene: REXO2 were set to unknown
Mode of pathogenicity for gene: REXO2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: REXO2 was set to AMBER
Added comment: PMID: 39107301 described a de novo variant in a single case with IEI with extensive functional evidence
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 RELB Dmitrijs Rots reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.4 MRPL39 Hannah Knight gene: MRPL39 was added
gene: MRPL39 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL39 were set to PMID: 37133451
Phenotypes for gene: MRPL39 were set to Combined oxidative phosphorylation deficiency 59
Review for gene: MRPL39 was set to GREEN
Added comment: PMID: 37133451 (2023) describe three patients with biallelic variants in MRPL39 and paediatric onset mitochondrial disease. Three frameshift variants and one missense variant reported
Sources: Literature
Intellectual disability v7.61 DDX17 Hannah Knight gene: DDX17 was added
gene: DDX17 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX17 were set to PMID: 39405200
Phenotypes for gene: DDX17 were set to Intellectual disability; delayed speech and language; motor delay
Review for gene: DDX17 was set to GREEN
Added comment: PMID: 39405200 (2024) - new paper identified 11 patients with de novo, monoallelic variants in DDX17 and neurodevelopmental phenotypes + experimental evidence
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 IL27RA Dmitrijs Rots reviewed gene: IL27RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders v2.3 IKBKG Dmitrijs Rots changed review comment from: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
Sources: Other; to: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
LoF variants causes X-linked incontinentia pigmenti.
Sources: Other.
Autoinflammatory disorders v2.3 IKBKG Dmitrijs Rots gene: IKBKG was added
gene: IKBKG was added to Autoinflammatory disorders. Sources: Other
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to PMID: 35289316
Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked
Penetrance for gene: IKBKG were set to unknown
Mode of pathogenicity for gene: IKBKG was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: IKBKG was set to GREEN
Added comment: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
Sources: Other
Hereditary neuropathy or pain disorder v5.19 DHH Alexander Rossor edited their review of gene: DHH: Added comment: Multipel reports of this syndrome causing peripheral neuropathy. Should be added to panel; Changed rating: GREEN; Changed publications to: 29471294: 11891836: 11017805: 25927242: 33107133; Changed phenotypes to: gonadal dysgenesis, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 ATP13A2 Alexander Rossor gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 28137957:
Phenotypes for gene: ATP13A2 were set to spastic paraplegia; cognitive impairment; peripheral neuropathy
Penetrance for gene: ATP13A2 were set to Complete
Review for gene: ATP13A2 was set to GREEN
Added comment: Peripheral neuropathy in individuals from 3 different families
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 ATM Alexander Rossor edited their review of gene: ATM: Added comment: Should now be included as R78 has extended its scope to include complex phenotypes that include neuropathy such as ataxia telangiectasia; Changed rating: GREEN; Changed publications to: 37553836; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 ATL3 Alexander Rossor edited their review of gene: ATL3: Added comment: 3rd indivudla reported with domintant ATL3 and neuropathy; Changed publications to: 30680846
Hereditary neuropathy or pain disorder v5.19 ATAD3A Alexander Rossor gene: ATAD3A was added
gene: ATAD3A was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy
Penetrance for gene: ATAD3A were set to Complete
Mode of pathogenicity for gene: ATAD3A was set to Other
Review for gene: ATAD3A was set to GREEN
Added comment: Both de novo and recessive. Multiple unrelated indivudals reported with axonal neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 ASAH1 Alexander Rossor gene: ASAH1 was added
gene: ASAH1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 24164096: 12571787: 534421: 22703880
Phenotypes for gene: ASAH1 were set to Progressive myoclonic epilepsy; motor neuropathy
Penetrance for gene: ASAH1 were set to Complete
Review for gene: ASAH1 was set to GREEN
Added comment: multiple affected individuals with peripheral neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 ARSA Alexander Rossor commented on gene: ARSA: Now a broad panel so this gene should be includedin R78
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor edited their review of gene: ARL6IP1: Changed rating: GREEN
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor changed review comment from: multiple individuals with neuropathy; to: multiple individuals with neuropathy
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor reviewed gene: ARL6IP1: Rating: ; Mode of pathogenicity: None; Publications: 28471035: 24482476: 31272422; Phenotypes: Spastic paraplegia, neuropathy; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.19 ARL6IP1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 APTX Alexander Rossor commented on gene: APTX: As per previous comments, complex phenotype, lots of evidence causes neuropathy as submitted i multiuple previous reviews
Hereditary neuropathy or pain disorder v5.19 AP5Z1 Alexander Rossor gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 26085577
Phenotypes for gene: AP5Z1 were set to spasticity; ataxia; retinopathy; neuropathy; parkinsonism
Penetrance for gene: AP5Z1 were set to Complete
Review for gene: AP5Z1 was set to AMBER
Added comment: only a single patient with neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 AP1S1 Alexander Rossor commented on gene: AP1S1: Scope of panel has been extended. 4 families with same splice site variant
Hereditary neuropathy or pain disorder v5.19 AMPD2 Alexander Rossor gene: AMPD2 was added
gene: AMPD2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553
Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia, axonal neuropathy,
Review for gene: AMPD2 was set to AMBER
Added comment: Neuropathy in two individuals
Sources: Expert list
Hereditary neuropathy or pain disorder v5.19 AAAS Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AAAS.
Tag Q3_24_NHS_review tag was added to gene: AAAS.
Hereditary neuropathy or pain disorder v5.19 AAAS Sarah Leigh reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.19 AAAS Sarah Leigh Publications for gene: AAAS were set to 34796249
Hereditary neuropathy or pain disorder v5.18 AAAS Sarah Leigh Phenotypes for gene: AAAS were changed from ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Hereditary neuropathy or pain disorder v5.17 AAAS Sarah Leigh Classified gene: AAAS as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.17 AAAS Sarah Leigh Gene: aaas has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.16 AMACR Alexander Rossor gene: AMACR was added
gene: AMACR was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455
Phenotypes for gene: AMACR were set to cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa
Penetrance for gene: AMACR were set to Complete
Review for gene: AMACR was set to GREEN
Added comment: multipel reports with peripheral neuropathy
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ALDH18A1 Alexander Rossor gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143
Phenotypes for gene: ALDH18A1 were set to spastic paraplegia; cognitive impairment; motor neuronopathy
Penetrance for gene: ALDH18A1 were set to Complete
Review for gene: ALDH18A1 was set to AMBER
Added comment: Currently present in several members of two unrelated families
Sources: Expert list
Proteinuric renal disease v4.14 KAT2B Riyaad Aungraheeta reviewed gene: KAT2B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39366742; Phenotypes: Steroid-resistant nephrotic syndrome; Mode of inheritance: None
Proteinuric renal disease v4.14 KAT2B Riyaad Aungraheeta Deleted their review
Proteinuric renal disease v4.14 KAT2B Riyaad Aungraheeta gene: KAT2B was added
gene: KAT2B was added to Proteinuric renal disease. Sources: Literature
Mode of inheritance for gene: KAT2B was set to Unknown
Publications for gene: KAT2B were set to PMID: 39366742
Phenotypes for gene: KAT2B were set to Steroid-resistant nephrotic syndrome
Penetrance for gene: KAT2B were set to unknown
Review for gene: KAT2B was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 TET2 Sarah Dixon changed review comment from: PMID: 36066697 (2023) presents two additional patients with ALPS-like immune phenotypes. Inheritance pattern is not consistent between cases. Uncertain significance.

P1: lymphoproliferation, cytopenias, and immune dysregulation.
Biallelic truncating variants in TET2 identified, apparently germline, although notably neither variant was maternally inherited (father not available for testing).

P2: autoimmunity and lymphoproliferation
Apparently germline LOF variant in TET2 identified (monoallelic).; to: PMID: 36066697 (2023) presents two additional patients with ALPS-like immune phenotypes. Inheritance pattern is not consistent between cases. Uncertain significance.

P1: lymphoproliferation, cytopenias, and immune dysregulation.
Biallelic truncating variants in TET2 identified, apparently germline, although notably neither variant was maternally inherited (father not available for testing).

P2: autoimmunity and lymphoproliferation
Apparently germline LOF variant in TET2 identified (monoallelic).


PMID: 21803851
Tet2 knockout mouse model develops myeloid malignancy
Cytopenia - NOT Fanconi anaemia v3.34 FASLG Dmitrijs Rots gene: FASLG was added
gene: FASLG was added to Cytopenia - NOT Fanconi anaemia. Sources: Other
Mode of inheritance for gene: FASLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FASLG were set to ALPS
Penetrance for gene: FASLG were set to Incomplete
Review for gene: FASLG was set to GREEN
Added comment: FASLG pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune).
Sources: Other
Cytopenia - NOT Fanconi anaemia v3.34 CASP10 Dmitrijs Rots gene: CASP10 was added
gene: CASP10 was added to Cytopenia - NOT Fanconi anaemia. Sources: Other
Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CASP10 were set to ALPS
Penetrance for gene: CASP10 were set to Incomplete
Review for gene: CASP10 was set to GREEN
Added comment: CASP10 pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune).
Sources: Other
Cytopenia - NOT Fanconi anaemia v3.34 FAS Dmitrijs Rots gene: FAS was added
gene: FAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Other
Mode of inheritance for gene: FAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAS were set to ALPS
Penetrance for gene: FAS were set to Incomplete
Review for gene: FAS was set to GREEN
Added comment: FAS pathogenic variants (germline or somatic) causes ALPS, which has a complex phenotype including different cytopenias (mostly autoimmune).
Sources: Other
Childhood onset hereditary spastic paraplegia v6.7 RINT1 Achchuthan Shanmugasundram Classified gene: RINT1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v6.7 RINT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Three unrelated cases and functional evidence are available in support of the association of this gene with early-onset hereditary spastic paraplegia. Hence, this gene can be promoted to green rating in the next GMS update.
Childhood onset hereditary spastic paraplegia v6.7 RINT1 Achchuthan Shanmugasundram Gene: rint1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v6.6 RINT1 Achchuthan Shanmugasundram Phenotypes for gene: RINT1 were changed from HSP to hereditary spastic paraplegia, MONDO:0019064
Childhood onset hereditary spastic paraplegia v6.5 RINT1 Achchuthan Shanmugasundram Publications for gene: RINT1 were set to PMID: 38990652
Childhood onset hereditary spastic paraplegia v6.4 RINT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RINT1.
Childhood onset hereditary spastic paraplegia v6.4 RINT1 Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463447, 38990652; Phenotypes: hereditary spastic paraplegia, MONDO:0019064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.54 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286; hearing loss disorder, MONDO:0005365 to congenital disorder of glycosylation, MONDO:0015286; hearing loss disorder, MONDO:0005365
Monogenic hearing loss v4.53 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; hearing loss disorder, MONDO:0005365
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DHRSX.
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There are two unrelated families reported with sensorineural hearing loss and hence this gene should be rated amber with current evidence.
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed rating: AMBER; Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286, hearing loss disorder, MONDO:0005365
Early onset or syndromic epilepsy v6.11 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286; epilepsy, MONDO:0005027 to congenital disorder of glycosylation, MONDO:0015286; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.11 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DHRSX.
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed rating: AMBER
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There are two unrelated families reported with epilepsy and hence this gene should be promoted to amber.
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286, epilepsy, MONDO:0005027
Congenital disorders of glycosylation v6.7 DHRSX Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286
Congenital disorders of glycosylation v6.7 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.61 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071
Congenital disorders of glycosylation v6.7 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60
Monogenic hearing loss v4.52 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Monogenic hearing loss. Sources: Expert Review Amber
Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX.
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Penetrance for gene: DHRSX were set to Complete
Congenital disorders of glycosylation v6.6 DHRSX Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60
Congenital disorders of glycosylation v6.6 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Congenital disorders of glycosylation. Sources: Expert Review Amber
Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX.
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Penetrance for gene: DHRSX were set to Complete
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60
Early onset or syndromic epilepsy v6.10 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber
Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX.
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Penetrance for gene: DHRSX were set to Complete
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Classified gene: DHRSX as Amber List (moderate evidence)
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Gene: dhrsx has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.59 DHRSX Achchuthan Shanmugasundram Publications for gene: DHRSX were set to
Intellectual disability v7.58 DHRSX Achchuthan Shanmugasundram Mode of inheritance for gene: DHRSX was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.58 DHRSX Achchuthan Shanmugasundram Mode of inheritance for gene: DHRSX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DHRSX.
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram changed review comment from: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38821050; Phenotypes: congenital disorder of glycosylation, MONDO:0015286, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Tag Q3_24_MOI tag was added to gene: ABCD1.
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; 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)
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, OMIM:300100
Hereditary neuropathy or pain disorder v5.16 AFG3L2 Alexander Rossor gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 22022284:
Phenotypes for gene: AFG3L2 were set to spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy
Penetrance for gene: AFG3L2 were set to Complete
Review for gene: AFG3L2 was set to AMBER
Added comment: I think Amber, only a single family
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADPRHL2 Alexander Rossor gene: ADPRHL2 was added
gene: ADPRHL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30401461: 30100084
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy
Penetrance for gene: ADPRHL2 were set to Complete
Review for gene: ADPRHL2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADGRG6 Alexander Rossor gene: ADGRG6 was added
gene: ADGRG6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201
Phenotypes for gene: ADGRG6 were set to lethal congenital contracture syndrome; lack of peripheral myelination
Penetrance for gene: ADGRG6 were set to Complete
Review for gene: ADGRG6 was set to GREEN
Added comment: 4 individuals, 3 unrelated families, absence of myelinated axons on post mortem
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADCY6 Alexander Rossor gene: ADCY6 was added
gene: ADCY6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099
Phenotypes for gene: ADCY6 were set to lethal congenital contracture syndrome; loss of axons
Penetrance for gene: ADCY6 were set to Complete
Review for gene: ADCY6 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ADA2 Alexander Rossor gene: ADA2 was added
gene: ADA2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 34210540:37584090
Phenotypes for gene: ADA2 were set to VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke
Penetrance for gene: ADA2 were set to Complete
Review for gene: ADA2 was set to GREEN
Added comment: Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 ABCD1 Alexander Rossor gene: ABCD1 was added
gene: ABCD1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ABCD1 were set to https://doi.org/10.1093/brain/awt361
Phenotypes for gene: ABCD1 were set to adreno leukodystrophy; adrenomyeloneuropathy
Penetrance for gene: ABCD1 were set to Complete
Review for gene: ABCD1 was set to GREEN
Added comment: Peripheral neuropathy in 50% female carriers
Sources: Expert list
Hereditary neuropathy or pain disorder v5.16 AAAS Alexander Rossor gene: AAAS was added
gene: AAAS was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 34796249
Phenotypes for gene: AAAS were set to ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy
Penetrance for gene: AAAS were set to Complete
Review for gene: AAAS was set to GREEN
Added comment: Sources: Expert list
Multi locus imprinting disorders v1.6 OOEP Dmitrijs Rots gene: OOEP was added
gene: OOEP was added to Multi locus imprinting disorders. Sources: Expert list
Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OOEP were set to PMID: 39090763
Phenotypes for gene: OOEP were set to MLID
Penetrance for gene: OOEP were set to unknown
Review for gene: OOEP was set to GREEN
Added comment: Included in the guidelines for MLID:PMID: 39090763
Sources: Expert list
Multi locus imprinting disorders v1.6 ZFP57 Dmitrijs Rots gene: ZFP57 was added
gene: ZFP57 was added to Multi locus imprinting disorders. Sources: Expert list
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to PMID: 39090763
Phenotypes for gene: ZFP57 were set to MLID
Penetrance for gene: ZFP57 were set to unknown
Review for gene: ZFP57 was set to GREEN
Added comment: included in the guidelines PMID: 39090763
Sources: Expert list
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v4.198 SCN4A Sarah Graham Deleted their review
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Undiagnosed metabolic disorders v1.623 GDAP1 Dmitrijs Rots reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.19 GDAP1 Dmitrijs Rots reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 ITPR3 Achchuthan Shanmugasundram Classified gene: ITPR3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 ITPR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The availability of four unrelated cases reported with the same de novo dominant-negative variant and supporting functional studies for this variant provides sufficient evidence for monoallelic MOI.

The presence of two unrelated cases reported with compound heterozygous variants and supporting functional work provides sufficient evidence for biallelic MOI.

Hence, the MOI was set to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" and the gene has been recommended for promotion to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 ITPR3 Achchuthan Shanmugasundram Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.15 ITPR3 Achchuthan Shanmugasundram Phenotypes for gene: ITPR3 were changed from Multisystemic to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v6.14 ITPR3 Achchuthan Shanmugasundram Publications for gene: ITPR3 were set to PMID: 39270020
Primary immunodeficiency or monogenic inflammatory bowel disease v6.13 ITPR3 Achchuthan Shanmugasundram edited their review of gene: ITPR3: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Primary immunodeficiency or monogenic inflammatory bowel disease v6.13 ITPR3 Achchuthan Shanmugasundram Mode of inheritance for gene: ITPR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ITPR3.
Tag Q3_24_promote_green tag was added to gene: ITPR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ITPR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram changed review comment from: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that this variant exhibits a dominant-negative effect.; to: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that this variant exhibits a dominant-negative effect.

Neither monoallelic nor biallelic variants in this gene has been associated with immunodeficiency phenotypes either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram changed review comment from: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that; to: PMID:36302985 reported the identification of three different ITPR3 variants in two unrelated male patients at compound heterozygous state. The 12-year-old patient presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. The 36-year-old patient resented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Functional work demonstrated that these variants impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation.

PMID:39270020 reported the identification of the same ITPR3 de novo variant (p.Arg2524Cys) in four unrelated patients and they presented with a complex syndromic immunodeficiency with variable multisystemic manifestations including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. Functional studies in patient-derived cells and gene-edited Jurkat cell lines confirmed that this variant alone is responsible for and capable of disturbing intracellular calcium homeostasis and hence ultimately the clinical phenotype. In addition, functional work also showed that this variant exhibits a dominant-negative effect.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ITPR3 Achchuthan Shanmugasundram reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36302985, 39270020; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.198 SIRT6 Dmitrijs Rots gene: SIRT6 was added
gene: SIRT6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIRT6 were set to PMID: 29555651
Penetrance for gene: SIRT6 were set to Complete
Review for gene: SIRT6 was set to GREEN
Added comment: The paper describes:"Here, we demonstrate that a homozygous inactivating mutation in the histone deacetylase SIRT6 results in severe congenital anomalies and perinatal lethality in four affected fetuses. " + functional data --> enough evidence for the green rating
Sources: Literature
Clefting v6.3 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2; DBQD2 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Likely inborn error of metabolism v6.19 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Fetal anomalies v4.198 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Undiagnosed metabolic disorders v1.623 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Intellectual disability v7.57 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Childhood onset dystonia, chorea or related movement disorder v5.6 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Childhood onset dystonia, chorea or related movement disorder v5.5 XYLT1 Sarah Leigh commented on gene: XYLT1
Intellectual disability v7.56 XYLT1 Sarah Leigh edited their review of gene: XYLT1: Added comment: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).; Changed rating: GREEN
Clefting v6.2 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v4.15 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.197 XYLT1 Sarah Leigh commented on gene: XYLT1: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).
Fetal anomalies v4.197 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v6.18 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.622 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v6.5 XYLT1 Sarah Leigh edited their review of gene: XYLT1: Added comment: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).; Changed rating: GREEN
Skeletal dysplasia v6.23 XYLT1 Sarah Leigh edited their review of gene: XYLT1: Added comment: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).; Changed rating: GREEN
Skeletal dysplasia v6.23 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Skeletal dysplasia v6.22 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Intellectual disability v7.56 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 24581741; 22711505; 23982343
Childhood onset dystonia, chorea or related movement disorder v5.5 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Clefting v6.2 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
DDG2P v4.15 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 24581741; 30554721
Likely inborn error of metabolism v6.18 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 23982343; 24581741
Fetal anomalies v4.197 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Undiagnosed metabolic disorders v1.622 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Congenital disorders of glycosylation v6.5 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to 23982343; 24581741
Skeletal dysplasia v6.21 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Childhood onset dystonia, chorea or related movement disorder v5.4 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Intellectual disability v7.55 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Clefting v6.1 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
DDG2P v4.14 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Fetal anomalies v4.196 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Likely inborn error of metabolism v6.17 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Undiagnosed metabolic disorders v1.621 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Congenital disorders of glycosylation v6.4 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v6.16 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813; ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v6.15 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 34645488; 37038048; 38565611
Likely inborn error of metabolism v6.15 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447
Likely inborn error of metabolism v6.14 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Likely inborn error of metabolism v6.14 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Deleted their comment
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Skeletal dysplasia v6.21 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Congenital disorders of glycosylation v6.4 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v6.3 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from ?Spondylocostal dysostosis 3, autosomal recessive 609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Congenital disorders of glycosylation v6.2 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447
Congenital disorders of glycosylation v6.1 LFNG Achchuthan Shanmugasundram changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels); to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).
Congenital disorders of glycosylation v6.1 LFNG Achchuthan Shanmugasundram commented on gene: LFNG: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels)
Congenital disorders of glycosylation v6.1 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.196 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). Hence, this gene can be promoted to green rating in the next GMS update.
Skeletal dysplasia v6.20 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.19 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 34645488; 37038048; 38565611
Skeletal dysplasia v6.19 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 37038048; 38565611
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram edited their review of gene: LFNG: Changed publications to: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.18 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from Spondylocostal dysostosis 3, autosomal recessive 609813 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Skeletal dysplasia v6.17 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 37038048; 38565611
Skeletal dysplasia v6.17 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 30196550; 16385447
Skeletal dysplasia v6.16 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Skeletal dysplasia v6.16 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.22 CLEC3B Achchuthan Shanmugasundram Classified gene: CLEC3B as Amber List (moderate evidence)
Retinal disorders v6.22 CLEC3B Achchuthan Shanmugasundram Added comment: Comment on list classification: Although the same variant was identified in all five reported families from the same village, this variant recapitulated human phenotypes in mouse model. Hence, this gene can be associated with green rating in the next GMS update.
Retinal disorders v6.22 CLEC3B Achchuthan Shanmugasundram Gene: clec3b has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.21 CLEC3B Achchuthan Shanmugasundram Phenotypes for gene: CLEC3B were changed from Macular dystrophy, retinal, 4 to Macular dystrophy, retinal, 4, OMIM:619977
Retinal disorders v6.20 CLEC3B Achchuthan Shanmugasundram Publications for gene: CLEC3B were set to PMID: 35331648
Retinal disorders v6.19 CLEC3B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLEC3B.
Retinal disorders v6.19 CLEC3B Achchuthan Shanmugasundram reviewed gene: CLEC3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35331648; Phenotypes: Macular dystrophy, retinal, 4, OMIM:619977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bilateral congenital or childhood onset cataracts v5.6 FOSL2 Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v5.6 FOSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Bilateral congenital or childhood onset cataracts v5.6 FOSL2 Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v5.5 FOSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2.
Bilateral congenital or childhood onset cataracts v5.5 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Review for gene: FOSL2 was set to GREEN
Added comment: PMID:36197437 reported 11 individuals from 10 unrelated families with heterozygous PTC variants (4 frameshift and 3 nonsense) in the last exon of FOSL2 gene. They all had a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts.

Five individuals had cataracts, mostly bilateral, either congenital or diagnosed during early childhood.

This gene has been associated with relevant phenotypes in both OMIM (MIM #620789) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Ectodermal dysplasia v3.33 FOSL2 Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence)
Ectodermal dysplasia v3.33 FOSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Ectodermal dysplasia v3.33 FOSL2 Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence).
Ectodermal dysplasia v3.32 FOSL2 Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Ectodermal dysplasia v3.31 FOSL2 Achchuthan Shanmugasundram Publications for gene: FOSL2 were set to PMID: 36197437
Ectodermal dysplasia v3.30 FOSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2.
Ectodermal dysplasia v3.30 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, OMIM:620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.55 FOSL2 Achchuthan Shanmugasundram Classified gene: FOSL2 as Amber List (moderate evidence)
Intellectual disability v7.55 FOSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v7.55 FOSL2 Achchuthan Shanmugasundram Gene: fosl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.54 FOSL2 Achchuthan Shanmugasundram Publications for gene: FOSL2 were set to PMID: 36197437
Intellectual disability v7.54 FOSL2 Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Intellectual disability v7.54 FOSL2 Achchuthan Shanmugasundram Phenotypes for gene: FOSL2 were changed from Aplasia cutis-enamel dysplasia syndrome to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Intellectual disability v7.53 FOSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOSL2.
Intellectual disability v7.53 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, OMIM:620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v6.19 COQ8B Achchuthan Shanmugasundram Classified gene: COQ8B as Amber List (moderate evidence)
Retinal disorders v6.19 COQ8B Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Retinal disorders v6.19 COQ8B Achchuthan Shanmugasundram Gene: coq8b has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.18 COQ8B Achchuthan Shanmugasundram changed review comment from: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.; to: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.

This gene has not yet been associated with retinal phenotype either in OMIM or in Gene2Phenotype.
Retinal disorders v6.18 COQ8B Achchuthan Shanmugasundram commented on gene: COQ8B: PMID:39226897 reported the identification of compound heterozygous variants in COQ8B gene in five individuals from four different families with non-syndromic retinitis pigmentosa. In total, five different variants were identified from these patients (p.Arg63Trp, p.Trp189Ter, p.Asp386Asn, p.Val442Met and p.Trp520Ter). In addition, cell-based analysis of recombinant proteins deriving from these genotypes showed in all cases a significant decrease in ligand-protein interaction compared to the wild type.
Retinal disorders v6.18 COQ8B Achchuthan Shanmugasundram Publications for gene: COQ8B were set to PMID 39226897
Retinal disorders v6.17 COQ8B Achchuthan Shanmugasundram Phenotypes for gene: COQ8B were changed from Retinal dystrophy to Retinitis pigmentosa, MONDO:0019200
Retinal disorders v6.16 COQ8B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COQ8B.
Tag Q3_24_NHS_review tag was added to gene: COQ8B.
Retinal disorders v6.16 COQ8B Achchuthan Shanmugasundram reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39226897; Phenotypes: Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram changed review comment from: PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense variants.; to: PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense and truncating variants that support LoF mechanism of disease.
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram Classified gene: LRRC7 as Amber List (moderate evidence)
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v7.53 LRRC7 Achchuthan Shanmugasundram Gene: lrrc7 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.52 LRRC7 Achchuthan Shanmugasundram Phenotypes for gene: LRRC7 were changed from neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.52 LRRC7 Achchuthan Shanmugasundram Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359)
Intellectual disability v7.51 LRRC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LRRC7.
Tag Q3_24_NHS_review tag was added to gene: LRRC7.
Intellectual disability v7.51 LRRC7 Achchuthan Shanmugasundram reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39256359; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.12 ZNFX1 Arina Puzriakova Phenotypes for gene: ZNFX1 were changed from mendelian susceptibility to mycobacterial disease; MSMD; monocytosis. to Immunodeficiency 91 and hyperinflammation, OMIM:619644
DDG2P v4.14 ZNF808 Arina Puzriakova Tag gene-checked tag was added to gene: ZNF808.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.11 ZNF341 Arina Puzriakova Phenotypes for gene: ZNF341 were changed from Hyper-IgE syndrome; Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features to Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, OMIM:618282; Hyper-IgE syndrome; Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features
Intellectual disability v7.51 ZBTB11 Arina Puzriakova Tag gene-checked tag was added to gene: ZBTB11.
Intellectual disability v7.51 ZBTB11 Arina Puzriakova Phenotypes for gene: ZBTB11 were changed from Intellectual developmental disorder, autosomal recessive 69, 618383; Intellectual disability to Intellectual developmental disorder, autosomal recessive 69, OMIM:618383
DDG2P v4.14 ZBTB11 Arina Puzriakova Tag gene-checked tag was added to gene: ZBTB11.
DDG2P v4.14 YWHAE Arina Puzriakova Tag gene-checked tag was added to gene: YWHAE.
Fetal anomalies v4.195 YIF1B Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B.
Intellectual disability v7.50 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Intellectual disability v7.50 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
Early onset or syndromic epilepsy v6.9 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Early onset or syndromic epilepsy v6.9 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
Severe microcephaly v6.8 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Severe microcephaly v6.8 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
Childhood onset dystonia, chorea or related movement disorder v5.4 YIF1B Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Childhood onset dystonia, chorea or related movement disorder v5.4 YIF1B Arina Puzriakova Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125
DDG2P v4.14 WNT7B Arina Puzriakova Tag gene-checked tag was added to gene: WNT7B.
Intellectual disability v7.49 WDR5 Arina Puzriakova Tag gene-checked tag was added to gene: WDR5.
Fetal anomalies v4.195 WDR37 Arina Puzriakova Tag gene-checked tag was added to gene: WDR37.
Retinal disorders v6.16 UBAP1L Arina Puzriakova Tag gene-checked tag was added to gene: UBAP1L.
Renal ciliopathies v3.13 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Neurological ciliopathies v4.10 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Rare multisystem ciliopathy disorders v1.174 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome; MGS to Meckel syndrome 14, OMIM:619879
Fetal anomalies v4.195 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel syndrome 14, OMIM:619879
Limb disorders v6.2 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Unexplained young onset end-stage renal disease v5.33 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from MGS; Meckel-Gruber syndrome to Meckel syndrome 14, OMIM:619879
Fetal anomalies v4.194 TUBGCP2 Arina Puzriakova Tag gene-checked tag was added to gene: TUBGCP2.
Early onset or syndromic epilepsy v6.8 TUBGCP2 Arina Puzriakova Phenotypes for gene: TUBGCP2 were changed from Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Intellectual disability v7.49 TUBGCP2 Arina Puzriakova Phenotypes for gene: TUBGCP2 were changed from Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Intellectual disability v7.48 TTC5 Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Intellectual disability v7.48 TTC5 Arina Puzriakova Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Severe microcephaly v6.7 TTC5 Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Severe microcephaly v6.7 TTC5 Arina Puzriakova Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Fetal anomalies v4.194 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Intellectual disability v7.47 TMEM94 Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316; Global developmental delay; Intellectual disability; Abnormal heart morphology; Abnormality of head or neck to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
DDG2P v4.14 TMEM94 Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
DDG2P v4.13 TMEM63B Arina Puzriakova Tag gene-checked tag was added to gene: TMEM63B.
Fetal anomalies v4.194 TMEM218 Arina Puzriakova Tag gene-checked tag was added to gene: TMEM218.
Intellectual disability v7.46 TBC1D8B Arina Puzriakova Tag gene-checked tag was added to gene: TBC1D8B.
DDG2P v4.13 TBC1D32 Arina Puzriakova Tag gene-checked tag was added to gene: TBC1D32.
Intellectual disability v7.46 STX1A Arina Puzriakova Tag gene-checked tag was added to gene: STX1A.
DDG2P v4.13 STX1A Arina Puzriakova Tag gene-checked tag was added to gene: STX1A.
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v6.16 SLC37A3 Arina Puzriakova Tag gene-checked tag was added to gene: SLC37A3.
Intellectual disability v7.46 SEPHS1 Arina Puzriakova Tag gene-checked tag was added to gene: SEPHS1.
DDG2P v4.13 SART3 Arina Puzriakova Tag gene-checked tag was added to gene: SART3.
Retinal disorders v6.16 SAMD7 Arina Puzriakova Tag gene-checked tag was added to gene: SAMD7.
Retinal disorders v6.16 SAMD7 Arina Puzriakova Phenotypes for gene: SAMD7 were changed from macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637 to Macular dystrophy with or without cone dysfunction, OMIM:620762
Intellectual disability v7.46 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
DDG2P v4.13 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
Early onset or syndromic epilepsy v6.7 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
Severe microcephaly v6.6 RNU4-2 Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2.
DDG2P v4.13 RNU4-2 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.
Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
DDG2P v4.13 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v3.20 RNU12 Arina Puzriakova Tag gene-checked tag was added to gene: RNU12.
Fetal anomalies v4.194 RNU12 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Tag gene-checked tag was added to gene: RNU12.
Intellectual disability v7.46 RBSN Arina Puzriakova Tag gene-checked was removed from gene: RBSN.
Intellectual disability v7.46 RBSN Arina Puzriakova Added comment: Comment on phenotypes: Phenotypes have now been added to OMIM for this gene - Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937 and Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939
Intellectual disability v7.46 RBSN Arina Puzriakova Phenotypes for gene: RBSN were changed from intellectual disability, MONDO:0001071 to Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937; Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939
DDG2P v4.13 RABGAP1 Arina Puzriakova Tag gene-checked tag was added to gene: RABGAP1.
DDG2P v4.13 PRPF19 Arina Puzriakova Tag gene-checked tag was added to gene: PRPF19.
Unexplained young onset end-stage renal disease v5.32 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
DDG2P v4.13 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
Proteinuric renal disease v4.14 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
Unexplained young onset end-stage renal disease - additional genes v0.126 PRDM15 Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15.
Retinal disorders v6.15 PQLC2 Arina Puzriakova Tag gene-checked tag was added to gene: PQLC2.
DDG2P v4.13 PPFIA3 Arina Puzriakova Tag gene-checked tag was added to gene: PPFIA3.
Amelogenesis imperfecta v3.9 PLXNB2 Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2.
Monogenic hearing loss v4.51 PLXNB2 Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2.
Intellectual disability v7.45 PLXNB2 Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2.
DDG2P v4.13 PHF5A Arina Puzriakova Tag gene-checked tag was added to gene: PHF5A.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Arina Puzriakova Tag gene-checked tag was added to gene: NUDCD3.
DDG2P v4.13 MYH10 Arina Puzriakova Tag gene-checked tag was added to gene: MYH10.
Mitochondrial disorders v7.4 MT-TT Arina Puzriakova Tag gene-checked tag was added to gene: MT-TT.
Likely inborn error of metabolism v6.14 MT-TT Arina Puzriakova Tag gene-checked tag was added to gene: MT-TT.
Retinal disorders v6.15 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Likely inborn error of metabolism v6.14 MT-TI Arina Puzriakova Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Undiagnosed metabolic disorders v1.621 MT-TI Arina Puzriakova Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Mitochondrial disorders v7.4 MT-TI Arina Puzriakova Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Paediatric or syndromic cardiomyopathy v5.13 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.16 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Intellectual disability v7.45 MMGT1 Arina Puzriakova Mode of inheritance for gene: MMGT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v7.44 METTL5 Arina Puzriakova Phenotypes for gene: METTL5 were changed from Intellectual developmental disorder, autosomal recessive 72, 618665 to Intellectual developmental disorder, autosomal recessive 72, OMIM:618665
DDG2P v4.13 METTL5 Arina Puzriakova Phenotypes for gene: METTL5 were changed from Autosomal-Recessive Intellectual Disability and Microcephaly to Intellectual developmental disorder, autosomal recessive 72, OMIM:618665
DDG2P v4.12 MAP4K4 Arina Puzriakova Tag gene-checked tag was added to gene: MAP4K4.
DDG2P v4.12 MAP4K4 Arina Puzriakova Publications for gene: MAP4K4 were set to 36469137; 28518170; PMID: 37126546; 37126546
Optic neuropathy v4.33 LHX2 Arina Puzriakova Tag gene-checked tag was added to gene: LHX2.
Severe microcephaly v6.6 LHX2 Arina Puzriakova Tag gene-checked tag was added to gene: LHX2.
DDG2P v4.11 LHX2 Arina Puzriakova Tag gene-checked tag was added to gene: LHX2.
DDG2P v4.11 LEF1 Arina Puzriakova Tag gene-checked tag was added to gene: LEF1.
Ectodermal dysplasia v3.30 LEF1 Arina Puzriakova Tag gene-checked tag was added to gene: LEF1.
DDG2P v4.11 KLHL20 Arina Puzriakova Tag gene-checked tag was added to gene: KLHL20.
Intellectual disability v7.43 KIRREL3 Arina Puzriakova Tag gene-checked tag was added to gene: KIRREL3.
DDG2P v4.11 KCND2 Arina Puzriakova Tag gene-checked tag was added to gene: KCND2.
Intellectual disability v7.43 KCNB2 Arina Puzriakova Tag gene-checked tag was added to gene: KCNB2.
Early onset or syndromic epilepsy v6.7 KCNB2 Arina Puzriakova Tag gene-checked tag was added to gene: KCNB2.
Intellectual disability v7.43 KCNA3 Arina Puzriakova Tag gene-checked tag was added to gene: KCNA3.
Early onset or syndromic epilepsy v6.7 KCNA3 Arina Puzriakova Tag gene-checked tag was added to gene: KCNA3.
Intellectual disability v7.43 ITSN1 Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1.
Fetal anomalies v4.194 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Arina Puzriakova Tag gene-checked tag was added to gene: HSPA1L.
DDG2P v4.11 HECTD4 Arina Puzriakova Tag gene-checked tag was added to gene: HECTD4.
Intellectual disability v7.43 GTF3C5 Arina Puzriakova Tag gene-checked tag was added to gene: GTF3C5.
DDG2P v4.11 FOXP4 Arina Puzriakova Tag gene-checked tag was added to gene: FOXP4.
Intellectual disability v7.43 FEM1B Arina Puzriakova Tag gene-checked tag was added to gene: FEM1B.
Fetal anomalies v4.194 FBRSL1 Arina Puzriakova Tag gene-checked tag was added to gene: FBRSL1.
Fetal anomalies v4.194 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Intellectual disability v7.43 FAM177A1 Arina Puzriakova Tag gene-checked tag was added to gene: FAM177A1.
Fetal anomalies v4.194 FAM149B1 Arina Puzriakova Tag gene-checked tag was added to gene: FAM149B1.
Intellectual disability v7.43 EZH1 Arina Puzriakova Tag gene-checked tag was added to gene: EZH1.
DDG2P v4.11 EZH1 Arina Puzriakova Tag gene-checked tag was added to gene: EZH1.
Renal ciliopathies v3.12 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios to Brain malformation renal syndrome, OMIM:620943
Neurological ciliopathies v4.9 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios to Brain malformation renal syndrome, OMIM:620943
Rare multisystem ciliopathy disorders v1.173 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys to Brain malformation renal syndrome, OMIM:620943
Fetal anomalies v4.194 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, OMIM:620943; Dandy-Walker malformation; Meckel-Gruber-like syndrome
CAKUT v1.178 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Brain malformation renal syndrome, OMIM:620943
Fetal anomalies v4.193 EXOC3L2 Arina Puzriakova Tag gene-checked was removed from gene: EXOC3L2.
Fetal anomalies v4.193 ERGIC1 Arina Puzriakova Tag gene-checked tag was added to gene: ERGIC1.
Fetal anomalies v4.193 DYNC1I1 Arina Puzriakova Tag gene-checked tag was added to gene: DYNC1I1.
DDG2P v4.11 DOT1L Arina Puzriakova Tag gene-checked tag was added to gene: DOT1L.
Intellectual disability v7.43 DOCK4 Arina Puzriakova Tag gene-checked tag was added to gene: DOCK4.
DDG2P v4.11 DHX9 Arina Puzriakova Tag gene-checked tag was added to gene: DHX9.
DDG2P v4.11 DENND5B Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B.
Early onset or syndromic epilepsy v6.7 DENND5B Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B.
Intellectual disability v7.43 DENND5B Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B.
DDG2P v4.11 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from DAW1-associated ciliopathy to Ciliary dyskinesia, primary, 52, OMIM:620570
Respiratory ciliopathies including non-CF bronchiectasis v3.19 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Laterality disorders and isomerism v3.17 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Non-CF bronchiectasis v1.31 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Non-CF bronchiectasis v1.30 DAW1 Arina Puzriakova Tag gene-checked tag was added to gene: DAW1.
Intellectual disability v7.43 CXorf56 Arina Puzriakova Phenotypes for gene: CXorf56 were changed from ?Mental retardation, X-linked 107, 301013 to Intellectual developmental disorder, X-linked 107, OMIM:301013
DDG2P v4.10 CTR9 Arina Puzriakova Tag gene-checked tag was added to gene: CTR9.
DDG2P v4.10 CNOT9 Arina Puzriakova Tag gene-checked tag was added to gene: CNOT9.
Intellectual disability v7.42 CLEC16A Arina Puzriakova Tag gene-checked tag was added to gene: CLEC16A.
Fetal anomalies v4.193 CEP85L Arina Puzriakova Tag gene-checked tag was added to gene: CEP85L.
Intellectual disability v7.42 CCDC47 Arina Puzriakova Phenotypes for gene: CCDC47 were changed from Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability; Trichohepatoneurodevelopmental syndrome, 618268 to Trichohepatoneurodevelopmental syndrome, OMIM:618268
Arthrogryposis v7.5 CCDC47 Arina Puzriakova Phenotypes for gene: CCDC47 were changed from to Trichohepatoneurodevelopmental syndrome, OMIM:618268
DDG2P v4.10 CBX1 Arina Puzriakova Tag gene-checked tag was added to gene: CBX1.
Paediatric or syndromic cardiomyopathy v5.13 CASZ1 Arina Puzriakova Tag gene-checked tag was added to gene: CASZ1.
Paediatric or syndromic cardiomyopathy v5.13 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Intellectual disability v7.41 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Early onset or syndromic epilepsy v6.7 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
DDG2P v4.10 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Fetal anomalies v4.193 C2orf69 Arina Puzriakova Tag gene-checked tag was added to gene: C2orf69.
Laterality disorders and isomerism v3.16 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from Ciliary dyskinesia, primary, 38, 618063 to Ciliary dyskinesia, primary, 38, OMIM:618063
Respiratory ciliopathies including non-CF bronchiectasis v3.18 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from Ciliary dyskinesia, primary, 38, 618063 to Ciliary dyskinesia, primary, 38, OMIM:618063
Fetal anomalies v4.193 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, OMIM:618063
Intellectual disability v7.41 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Early onset or syndromic epilepsy v6.7 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
DDG2P v4.10 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Optic neuropathy v4.33 BORCS8 Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8.
Intellectual disability v7.41 BAZ2B Arina Puzriakova Tag gene-checked tag was added to gene: BAZ2B.
Intellectual disability v7.41 ANO4 Arina Puzriakova Tag gene-checked tag was added to gene: ANO4.
Early onset or syndromic epilepsy v6.7 ANO4 Arina Puzriakova Tag gene-checked tag was added to gene: ANO4.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 ANKZF1 Arina Puzriakova Tag gene-checked tag was added to gene: ANKZF1.
Unexplained young onset end-stage renal disease - additional genes v0.126 Achchuthan Shanmugasundram Panel status changed from public to internal
APOL1 kidney donor testing v0.5 Achchuthan Shanmugasundram Panel status changed from public to internal
NICE approved PARP inhibitor treatment v0.7 Achchuthan Shanmugasundram Panel status changed from public to internal
Unexplained young onset end-stage renal disease - additional genes v0.125 Achchuthan Shanmugasundram Panel status changed from internal to public
APOL1 kidney donor testing v0.4 Achchuthan Shanmugasundram Panel status changed from internal to public
NICE approved PARP inhibitor treatment v0.6 Achchuthan Shanmugasundram Panel status changed from internal to public
Retinal disorders v6.15 DCT Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DCT.
Tag Q3_24_NHS_review tag was added to gene: DCT.
Tag Q3_24_MOI tag was added to gene: DCT.
Albinism or congenital nystagmus v3.9 DCT Sarah Leigh Publications for gene: DCT were set to 33100333
Albinism or congenital nystagmus v3.8 DCT Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.15 DCT Sarah Leigh reviewed gene: DCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.15 DCT Sarah Leigh Phenotypes for gene: DCT were changed from oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899
Albinism or congenital nystagmus v3.8 DCT Sarah Leigh Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, OMIM:619165; oculocutaneous albinism type 8, MONDO:0030899
Retinal disorders v6.14 DCT Sarah Leigh Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807)
Retinal disorders v6.13 DCT Sarah Leigh Classified gene: DCT as Amber List (moderate evidence)
Retinal disorders v6.13 DCT Sarah Leigh Gene: dct has been classified as Amber List (Moderate Evidence).
Retinal disorders v6.12 MAN2B1 Sarah Leigh Tag Q3_24_MOI tag was added to gene: MAN2B1.
Retinal disorders v6.12 MAN2B1 Sarah Leigh commented on gene: MAN2B1: MAN2B1 variants have been associated with Mannosidosis, alpha-, types I and II, (OMIM:248500).
Matlach et al (PMID: 29859105) present a detailed study of the ocular manifestations in OMIM:248500. Using posterior segment examination, fundus photography, and Spectral-Domain optical coherence tomography (SD-OCT) imaging, in a cohort of 32 patients, the authors were able to show the following: Tapeto-retinal degeneration with bone spicule formations in the peripheral retina or macular changes in three patients (9.4%) on funduscopy (two had optic nerve atrophy). Thinning of the outer retinal layer was seen in six patients (18.8%) using OCT. Optic nerve atrophy was seen in six patients (18.8%)(four with partial atrophy). A further two patients (6.3%) had partial optic nerve atrophy with no retinal abnormalities on funduscopy. Cataract was seen in two patients (6.3%), corneal haze was seen in two patients (6.3%). Six patients (18.8%) had manifest strabismus, four (12.5%) nystagmus, and in five patients (15.6%) impaired smooth pursuit eye movements were seen. This study emphasized the importance of detailed examinations, to be able to diagnose early signs of disease.
Retinal disorders v6.12 MAN2B1 Sarah Leigh Deleted their comment
Retinal disorders v6.12 MAN2B1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAN2B1.
Tag Q3_24_NHS_review tag was added to gene: MAN2B1.
Retinal disorders v6.12 MAN2B1 Sarah Leigh reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v6.12 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, OMIM:248500 to Mannosidosis, alpha-, types I and II, OMIM:248500; alpha-mannosidosis, MONDO:0009561
Retinal disorders v6.11 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Retinal dystrophy to Mannosidosis, alpha-, types I and II, OMIM:248500
Retinal disorders v6.10 MAN2B1 Sarah Leigh Publications for gene: MAN2B1 were set to PMID:29859105
Retinal disorders v6.9 MAN2B1 Sarah Leigh Classified gene: MAN2B1 as Amber List (moderate evidence)
Retinal disorders v6.9 MAN2B1 Sarah Leigh Gene: man2b1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 TET2 Sarah Dixon reviewed gene: TET2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36066697; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v6.16 RIPPLY2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: RIPPLY2.
Skeletal dysplasia v6.16 RIPPLY2 Sarah Leigh Classified gene: RIPPLY2 as Amber List (moderate evidence)
Skeletal dysplasia v6.16 RIPPLY2 Sarah Leigh Gene: ripply2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.15 RIPPLY2 Sarah Leigh changed review comment from: RIPPLY2 variants have been associated with Spondylocostal dysostosis 6 (OMIM:616566). In total, three RIPPLY2 variants have been identified ten affected individuals from seven unrelated families (PMID: 26238661;25343988;32212228;33410135). Segregation of the RIPPLY2 variants was seen, with the unaffected parents being heterozygous for the variants that were either homozygous, or compound heterozygous in the affected child. Variant c.240-4T>G (NM_001009994.2) has a allele frequency of 0.001105 (gnomAD 4.1), and a homozygous frequency of 0.0000020229.; to: RIPPLY2 variants have been associated with Spondylocostal dysostosis 6 (OMIM:616566). In total, three RIPPLY2 variants have been identified ten affected individuals from seven unrelated families (PMID: 26238661;25343988;32212228;33410135). Segregation of the RIPPLY2 variants was seen in all cases, with the unaffected parents being heterozygous for the variants that were either homozygous, or compound heterozygous in the affected child. Variant c.240-4T>G (NM_001009994.2) has a allele frequency of 0.001105 (gnomAD 4.1), and a homozygous frequency of 0.0000020229.
Skeletal dysplasia v6.15 RIPPLY2 Sarah Leigh reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v6.15 RIPPLY2 Sarah Leigh Publications for gene: RIPPLY2 were set to 26238661; 25343988; 33410135
Skeletal dysplasia v6.14 RIPPLY2 Sarah Leigh Publications for gene: RIPPLY2 were set to 26238661; 25343988
Skeletal dysplasia v6.13 RIPPLY2 Sarah Leigh Phenotypes for gene: RIPPLY2 were changed from Spondylocostal dysostosis 6 - 616566 to Spondylocostal dysostosis 6, OMIM:616566; spondylocostal dysostosis 6, autosomal recessive, MONDO:0014694
Arthrogryposis v7.4 SLC35A3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLC35A3.
Tag Q2_24_NHS_review was removed from gene: SLC35A3.
Adult onset neurodegenerative disorder v6.6 ATXN2_CAG Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from STR: ATXN2_CAG.
Tag Q2_24_NHS_review was removed from STR: ATXN2_CAG.
Likely inborn error of metabolism v6.13 ARSK Sarah Leigh Classified gene: ARSK as Amber List (moderate evidence)
Likely inborn error of metabolism v6.13 ARSK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism v6.13 ARSK Sarah Leigh Gene: arsk has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.12 ARSK Sarah Leigh Classified gene: ARSK as Amber List (moderate evidence)
Skeletal dysplasia v6.12 ARSK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Skeletal dysplasia v6.12 ARSK Sarah Leigh Gene: arsk has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v6.11 ARSK Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSK.
Skeletal dysplasia v6.11 ARSK Sarah Leigh reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v6.12 ARSK Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSK.
Likely inborn error of metabolism v6.12 ARSK Sarah Leigh reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v6.12 ARSK Sarah Leigh Phenotypes for gene: ARSK were changed from Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524
Skeletal dysplasia v6.11 ARSK Sarah Leigh Phenotypes for gene: ARSK were changed from Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524
Likely inborn error of metabolism v6.11 ARSK Sarah Leigh Publications for gene: ARSK were set to 34916232
Skeletal dysplasia v6.10 ARSK Sarah Leigh Publications for gene: ARSK were set to 34916232
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Sarah Leigh reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Unexplained young onset end-stage renal disease - additional genes v0.124 Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh Tag watchlist tag was added to gene: BORCS8.
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh reviewed gene: BORCS8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal dysplasia v3.30 KRT83 Arina Puzriakova Mode of inheritance for gene: KRT83 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes v5.10 PLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Changed rating: AMBER
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v3.29 KRT83 Arina Puzriakova changed review comment from: Comment on list classification: KRT81 is associated with two relevant phenotypes in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification for monilethrix. Monoallelic variant have been linked to monilethrix in two families (PMID: 15744029; 25557232) while biallelic variants were found in one family with EKVP5 (PMID: 27965375).

Overall no additional evidence has been published since the last review and therefore going to maintain the amber rating for now, but adding a 'watchlist' tag to monitor for additional evidence that may lead to future upgrade to green.

Other keratin genes, like KRT81 and KRT86 have been added as amber with the recommendation of being made green at the next review.; to: Comment on list classification: KRT83 is associated with two relevant phenotypes in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification for monilethrix. Monoallelic variant have been linked to monilethrix in two families (PMID: 15744029; 25557232) while biallelic variants were found in one family with EKVP5 (PMID: 27965375).

Overall no additional evidence has been published since the last review and therefore going to maintain the amber rating for now, but adding a 'watchlist' tag to monitor for additional evidence that may lead to future upgrade to green.

Other keratin genes, like KRT81 and KRT86 have been added as amber with the recommendation of being made green at the next review.
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh Tag Q3_24_promote_green was removed from gene: BORCS8.
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Sarah Leigh Entity copied from Intellectual disability v7.41
Childhood onset hereditary spastic paraplegia v6.4 BORCS8 Sarah Leigh gene: BORCS8 was added
gene: BORCS8 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber,Literature
Q3_24_promote_green tags were added to gene: BORCS8.
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh Entity copied from Intellectual disability v7.41
Early onset or syndromic epilepsy v6.7 BORCS8 Sarah Leigh gene: BORCS8 was added
gene: BORCS8 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature
Q3_24_promote_green tags were added to gene: BORCS8.
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. GLHs agree that additional supportive evidence is needed.
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams Classified gene: PLD1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams Gene: pld1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease - additional genes v0.122 SOX17 Achchuthan Shanmugasundram Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3, 613674 to Vesicoureteral reflux 3, OMIM:613674
Unexplained young onset end-stage renal disease - additional genes v0.121 SIX1 Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from Branchiootorenal Spectrum Disorders to Branchiootic syndrome 3, OMIM:608389; Deafness, autosomal dominant 23, OMIM:605192
Unexplained young onset end-stage renal disease - additional genes v0.120 ROBO2 Achchuthan Shanmugasundram Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2, OMIM:610878
Unexplained young onset end-stage renal disease - additional genes v0.119 MYH11 Achchuthan Shanmugasundram Phenotypes for gene: MYH11 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351
Unexplained young onset end-stage renal disease - additional genes v0.118 DACT1 Achchuthan Shanmugasundram Phenotypes for gene: DACT1 were changed from TBS2; ?Townes-Brocks syndrome 2,617466 to Townes-Brocks syndrome 2, OMIM:617466
Unexplained young onset end-stage renal disease - additional genes v0.117 DACT1 Achchuthan Shanmugasundram Publications for gene: DACT1 were set to 19701191; 28054444; 22610794
Unexplained young onset end-stage renal disease - additional genes v0.116 COX10 Achchuthan Shanmugasundram Phenotypes for gene: COX10 were changed from Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Unexplained young onset end-stage renal disease - additional genes v0.115 CHD1L Achchuthan Shanmugasundram Phenotypes for gene: CHD1L were changed from Renal or urinary tract malformation (CAKUT); ORPHA93545 to congenital anomaly of kidney and urinary tract, MONDO:0019719
Unexplained young onset end-stage renal disease - additional genes v0.114 CHD1L Achchuthan Shanmugasundram Publications for gene: CHD1L were set to 24429398; 22146311
Unexplained young onset end-stage renal disease - additional genes v0.113 BMP4 Achchuthan Shanmugasundram Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, OMIM:607932
Unexplained young onset end-stage renal disease - additional genes v0.112 BICC1 Achchuthan Shanmugasundram Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}, 601331 to {Renal dysplasia, cystic, susceptibility to}, OMIM:601331
Unexplained young onset end-stage renal disease - additional genes v0.111 ACTA2 Achchuthan Shanmugasundram Phenotypes for gene: ACTA2 were changed from Multi system smooth muscle dysfunction to Smooth muscle dysfunction syndrome, OMIM:613834
Unexplained young onset end-stage renal disease - additional genes v0.110 WDR72 Achchuthan Shanmugasundram Phenotypes for gene: WDR72 were changed from distal renal tubular acidosis, MONDO:0015827; hereditary distal renal tubular acidosis; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 to distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Unexplained young onset end-stage renal disease - additional genes v0.109 WDR72 Achchuthan Shanmugasundram Publications for gene: WDR72 were set to 30779877; 33033857; 30028003; 31959358
Unexplained young onset end-stage renal disease - additional genes v0.108 TRAP1 Achchuthan Shanmugasundram Phenotypes for gene: TRAP1 were changed from CAKUT; VACTERL 192350 to CAKUT; VATER/VACTERL ASSOCIATION, OMIM:192350
Unexplained young onset end-stage renal disease - additional genes v0.107 TBX18 Achchuthan Shanmugasundram Phenotypes for gene: TBX18 were changed from Congenital anomalies of kidney and urinary tract 2 143400 to Congenital anomalies of kidney and urinary tract 2, OMIM:143400
Unexplained young onset end-stage renal disease - additional genes v0.106 TBX18 Achchuthan Shanmugasundram Publications for gene: TBX18 were set to
Unexplained young onset end-stage renal disease - additional genes v0.105 SIX5 Achchuthan Shanmugasundram Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, 610896 to Branchiootorenal syndrome 2, OMIM:610896
Unexplained young onset end-stage renal disease - additional genes v0.104 SALL1 Achchuthan Shanmugasundram Phenotypes for gene: SALL1 were changed from Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities to Townes-Brocks branchiootorenal-like syndrome, OMIM:107480; Townes-Brocks syndrome 1, OMIM:107480
Unexplained young onset end-stage renal disease - additional genes v0.103 RRM2B Achchuthan Shanmugasundram Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315
Unexplained young onset end-stage renal disease - additional genes v0.102 RMND1 Achchuthan Shanmugasundram Publications for gene: RMND1 were set to 32911714; 31889854; 31568715
Unexplained young onset end-stage renal disease - additional genes v0.101 RET Achchuthan Shanmugasundram Deleted their comment
Unexplained young onset end-stage renal disease - additional genes v0.101 RET Achchuthan Shanmugasundram Added comment: Comment on phenotypes: 191830
Unexplained young onset end-stage renal disease - additional genes v0.101 RET Achchuthan Shanmugasundram Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 to {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Multiple endocrine neoplasia IIA, OMIM:171400; Multiple endocrine neoplasia IIB, OMIM:162300; Pheochromocytoma, OMIM:171300
Unexplained young onset end-stage renal disease - additional genes v0.100 PBX1 Achchuthan Shanmugasundram Phenotypes for gene: PBX1 were changed from CAKUT to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641
Unexplained young onset end-stage renal disease - additional genes v0.99 LRIG2 Achchuthan Shanmugasundram Phenotypes for gene: LRIG2 were changed from Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 to Urofacial syndrome 2, OMIM:615112; Congenital bladder disease: dyssynergic, high pressure bladder
Unexplained young onset end-stage renal disease - additional genes v0.98 LRIG2 Achchuthan Shanmugasundram Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013.
Unexplained young onset end-stage renal disease - additional genes v0.97 KYNU Achchuthan Shanmugasundram Phenotypes for gene: KYNU were changed from Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; ?Hydroxykynureninuria, 236800; multiple congenital malformations to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661
Unexplained young onset end-stage renal disease - additional genes v0.96 KYNU Achchuthan Shanmugasundram Publications for gene: KYNU were set to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.95 ITGA8 Achchuthan Shanmugasundram Phenotypes for gene: ITGA8 were changed from Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830
Unexplained young onset end-stage renal disease - additional genes v0.94 ISCA-37401-Loss Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
Unexplained young onset end-stage renal disease - additional genes v0.93 HPSE2 Achchuthan Shanmugasundram Phenotypes for gene: HPSE2 were changed from Urofacial Syndrome; Urofacial syndrome 1 236730; Congenital bladder disease: dyssynergic, high pressure bladder to Urofacial syndrome 1, OMIM:236730; Congenital bladder disease: dyssynergic, high pressure bladder
Unexplained young onset end-stage renal disease - additional genes v0.92 HAAO Achchuthan Shanmugasundram Phenotypes for gene: HAAO were changed from Multiple congenital malformations; VACTERL-like phenotype to Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660
Unexplained young onset end-stage renal disease - additional genes v0.91 HAAO Achchuthan Shanmugasundram Publications for gene: HAAO were set to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.90 GRIP1 Achchuthan Shanmugasundram Phenotypes for gene: GRIP1 were changed from Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 to Fraser syndrome 3, OMIM:617667
Unexplained young onset end-stage renal disease - additional genes v0.89 GATA3 Achchuthan Shanmugasundram Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255
Unexplained young onset end-stage renal disease - additional genes v0.88 FREM2 Achchuthan Shanmugasundram Phenotypes for gene: FREM2 were changed from Fraser syndrome; Fraser syndrome 219000 to Fraser syndrome 2, OMIM:617666
Unexplained young onset end-stage renal disease - additional genes v0.87 FREM1 Achchuthan Shanmugasundram Phenotypes for gene: FREM1 were changed from Bifid nose with or without anorectal and renal anomalies, 608980 to Bifid nose with or without anorectal and renal anomalies, OMIM:608980
Unexplained young onset end-stage renal disease - additional genes v0.86 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were set to PMID: 24700879
Unexplained young onset end-stage renal disease - additional genes v0.85 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were set to PMID: 24700879
Unexplained young onset end-stage renal disease - additional genes v0.84 FRAS1 Achchuthan Shanmugasundram Phenotypes for gene: FRAS1 were changed from Fraser syndrome; Fraser syndrome 219000 to Fraser syndrome 1, OMIM:219000
Unexplained young onset end-stage renal disease - additional genes v0.83 FAN1 Achchuthan Shanmugasundram Phenotypes for gene: FAN1 were changed from chronic kidney disease; karyomegalic interstitial nephritis, MONDO:0013898; interstitial nephritis; Interstitial nephritis, karyomegalic, OMIM:614817 to Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898; chronic kidney disease
Unexplained young onset end-stage renal disease - additional genes v0.82 EYA1 Achchuthan Shanmugasundram Phenotypes for gene: EYA1 were changed from Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 to Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650
Unexplained young onset end-stage renal disease - additional genes v0.81 DSTYK Achchuthan Shanmugasundram Phenotypes for gene: DSTYK were changed from vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} to Congenital anomalies of kidney and urinary tract 1, OMIM:610805
Unexplained young onset end-stage renal disease - additional genes v0.80 CHRM3 Achchuthan Shanmugasundram Phenotypes for gene: CHRM3 were changed from Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease
Unexplained young onset end-stage renal disease - additional genes v0.79 CHRM3 Achchuthan Shanmugasundram Publications for gene: CHRM3 were set to 31441039; 22077972; 10944224
Unexplained young onset end-stage renal disease - additional genes v0.78 CHD7 Achchuthan Shanmugasundram Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome, OMIM:214800
Unexplained young onset end-stage renal disease - additional genes v0.77 C3 Achchuthan Shanmugasundram Phenotypes for gene: C3 were changed from C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD to C3 deficiency, OMIM:613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925
Unexplained young onset end-stage renal disease - additional genes v0.76 BNC2 Achchuthan Shanmugasundram Phenotypes for gene: BNC2 were changed from Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV to Lower urinary tract obstruction, congenital, OMIM:618612
Unexplained young onset end-stage renal disease - additional genes v0.75 ARMC9 Achchuthan Shanmugasundram Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622
Unexplained young onset end-stage renal disease - additional genes v0.74 ANOS1 Achchuthan Shanmugasundram Phenotypes for gene: ANOS1 were changed from Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700
Unexplained young onset end-stage renal disease - additional genes v0.73 ACTG2 Achchuthan Shanmugasundram Publications for gene: ACTG2 were set to PMID: 25998219
Unexplained young onset end-stage renal disease - additional genes v0.72 AGTR1 Achchuthan Shanmugasundram Phenotypes for gene: AGTR1 were changed from Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430 to Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.71 AGT Achchuthan Shanmugasundram Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 to Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.70 ACTG2 Achchuthan Shanmugasundram Phenotypes for gene: ACTG2 were changed from Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310; Berdon syndrome
Unexplained young onset end-stage renal disease - additional genes v0.69 ACE Achchuthan Shanmugasundram Phenotypes for gene: ACE were changed from {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 to Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.68 ACE Achchuthan Shanmugasundram edited their review of gene: ACE: Changed phenotypes to: Renal tubular dysgenesis, OMIM:267430
Unexplained young onset end-stage renal disease - additional genes v0.68 ISCA-37401-Loss Achchuthan Shanmugasundram Triplosensitivity Score for ISCA-37401-Loss was changed from None to .
Unexplained young onset end-stage renal disease - additional genes v0.68 WDR72 Achchuthan Shanmugasundram Added phenotypes distal renal tubular acidosis, MONDO:0015827; hereditary distal renal tubular acidosis; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 for gene: WDR72
Publications for gene: WDR72 were updated from 30028003; 30779877; 31959358; 33033857 to 30779877; 33033857; 30028003; 31959358
Unexplained young onset end-stage renal disease - additional genes v0.68 UPK3A Achchuthan Shanmugasundram Added phenotypes Renal Adysplasia for gene: UPK3A
Unexplained young onset end-stage renal disease - additional genes v0.68 TRAP1 Achchuthan Shanmugasundram Added phenotypes CAKUT; VACTERL 192350 for gene: TRAP1
Unexplained young onset end-stage renal disease - additional genes v0.68 TBX18 Achchuthan Shanmugasundram Added phenotypes Congenital anomalies of kidney and urinary tract 2 143400 for gene: TBX18
Unexplained young onset end-stage renal disease - additional genes v0.68 SOX17 Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
Unexplained young onset end-stage renal disease - additional genes v0.68 SIX5 Achchuthan Shanmugasundram Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Unexplained young onset end-stage renal disease - additional genes v0.68 SIX1 Achchuthan Shanmugasundram Added phenotypes Branchiootorenal Spectrum Disorders for gene: SIX1
Unexplained young onset end-stage renal disease - additional genes v0.68 SALL1 Achchuthan Shanmugasundram Added phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities for gene: SALL1
Unexplained young onset end-stage renal disease - additional genes v0.68 RRM2B Achchuthan Shanmugasundram Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 for gene: RRM2B
Unexplained young onset end-stage renal disease - additional genes v0.68 ROBO2 Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux for gene: ROBO2
Unexplained young onset end-stage renal disease - additional genes v0.68 RMND1 Achchuthan Shanmugasundram Added phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 for gene: RMND1
Publications for gene: RMND1 were updated from 31568715; 31889854; 32911714 to 32911714; 31889854; 31568715
Unexplained young onset end-stage renal disease - additional genes v0.68 RET Achchuthan Shanmugasundram Added phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 for gene: RET
Unexplained young onset end-stage renal disease - additional genes v0.68 PBX1 Achchuthan Shanmugasundram Added phenotypes CAKUT for gene: PBX1
Unexplained young onset end-stage renal disease - additional genes v0.68 MYH11 Achchuthan Shanmugasundram Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: MYH11
Unexplained young onset end-stage renal disease - additional genes v0.68 LRIG2 Achchuthan Shanmugasundram Added phenotypes Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 for gene: LRIG2
Unexplained young onset end-stage renal disease - additional genes v0.68 KYNU Achchuthan Shanmugasundram Added phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; ?Hydroxykynureninuria, 236800; multiple congenital malformations for gene: KYNU
Publications for gene: KYNU were updated from 27604308; 17334708; 28792876 to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.68 ITGA8 Achchuthan Shanmugasundram Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Unexplained young onset end-stage renal disease - additional genes v0.68 HPSE2 Achchuthan Shanmugasundram Added phenotypes Urofacial Syndrome; Urofacial syndrome 1 236730; Congenital bladder disease: dyssynergic, high pressure bladder for gene: HPSE2
Publications for gene: HPSE2 were updated from 20560210; 20560209 to 20560209; 20560210
Unexplained young onset end-stage renal disease - additional genes v0.68 HAAO Achchuthan Shanmugasundram Added phenotypes Multiple congenital malformations; VACTERL-like phenotype for gene: HAAO
Publications for gene: HAAO were updated from 27604308; 17334708; 28792876 to 28792876; 27604308; 17334708
Unexplained young onset end-stage renal disease - additional genes v0.68 GRIP1 Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 for gene: GRIP1
Publications for gene: GRIP1 were updated from 24700879; 14730302; 24357607; 22510445 to 14730302; 24357607; 24700879; 22510445
Unexplained young onset end-stage renal disease - additional genes v0.68 GLI3 Achchuthan Shanmugasundram Added phenotypes Pallister-Hall syndrome, OMIM:146510 for gene: GLI3
Unexplained young onset end-stage renal disease - additional genes v0.68 GATA3 Achchuthan Shanmugasundram Added phenotypes Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
Unexplained young onset end-stage renal disease - additional genes v0.68 FREM2 Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; Fraser syndrome 219000 for gene: FREM2
Unexplained young onset end-stage renal disease - additional genes v0.68 FREM1 Achchuthan Shanmugasundram Added phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
Unexplained young onset end-stage renal disease - additional genes v0.68 FRAS1 Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; Fraser syndrome 219000 for gene: FRAS1
Unexplained young onset end-stage renal disease - additional genes v0.68 FAN1 Achchuthan Shanmugasundram Added phenotypes chronic kidney disease; karyomegalic interstitial nephritis, MONDO:0013898; interstitial nephritis; Interstitial nephritis, karyomegalic, OMIM:614817 for gene: FAN1
Unexplained young onset end-stage renal disease - additional genes v0.68 EYA1 Achchuthan Shanmugasundram Added phenotypes Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
Unexplained young onset end-stage renal disease - additional genes v0.68 DSTYK Achchuthan Shanmugasundram Added phenotypes vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} for gene: DSTYK
Unexplained young onset end-stage renal disease - additional genes v0.68 DACT1 Achchuthan Shanmugasundram Added phenotypes TBS2; ?Townes-Brocks syndrome 2,617466 for gene: DACT1
Publications for gene: DACT1 were updated from 28054444; 19701191; 22610794 to 19701191; 28054444; 22610794
Unexplained young onset end-stage renal disease - additional genes v0.68 COX10 Achchuthan Shanmugasundram Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 for gene: COX10
Unexplained young onset end-stage renal disease - additional genes v0.68 CHRM3 Achchuthan Shanmugasundram Added phenotypes Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 for gene: CHRM3
Publications for gene: CHRM3 were updated from 10944224; 22077972; 31441039 to 31441039; 22077972; 10944224
Unexplained young onset end-stage renal disease - additional genes v0.68 CHD7 Achchuthan Shanmugasundram Added phenotypes CHARGE syndrome 214800 for gene: CHD7
Unexplained young onset end-stage renal disease - additional genes v0.68 CHD1L Achchuthan Shanmugasundram Added phenotypes Renal or urinary tract malformation (CAKUT); ORPHA93545 for gene: CHD1L
Unexplained young onset end-stage renal disease - additional genes v0.68 BNC2 Achchuthan Shanmugasundram Added phenotypes Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV for gene: BNC2
Unexplained young onset end-stage renal disease - additional genes v0.68 BICC1 Achchuthan Shanmugasundram Added phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 for gene: BICC1
Unexplained young onset end-stage renal disease - additional genes v0.68 ARMC9 Achchuthan Shanmugasundram Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9
Unexplained young onset end-stage renal disease - additional genes v0.68 ANOS1 Achchuthan Shanmugasundram Added phenotypes Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) for gene: ANOS1
Unexplained young onset end-stage renal disease - additional genes v0.68 AGTR1 Achchuthan Shanmugasundram Added phenotypes Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430 for gene: AGTR1
Unexplained young onset end-stage renal disease - additional genes v0.68 AGT Achchuthan Shanmugasundram Added phenotypes Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 for gene: AGT
Unexplained young onset end-stage renal disease - additional genes v0.68 ACTG2 Achchuthan Shanmugasundram Added phenotypes Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 for gene: ACTG2
Unexplained young onset end-stage renal disease - additional genes v0.68 ACTA2 Achchuthan Shanmugasundram Added phenotypes Multi system smooth muscle dysfunction for gene: ACTA2
Unexplained young onset end-stage renal disease - additional genes v0.68 ACE Achchuthan Shanmugasundram Added phenotypes {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 for gene: ACE
Monogenic short stature v1.1 GH1 Adam Gunning reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 RPGRIP1 Achchuthan Shanmugasundram edited their review of gene: RPGRIP1: Added comment: The DDG2P mutation consequence for RPGRIP1-related retinal dystrophy, OMIM:608194 has been updated to absent gene product,altered gene product structure.; Changed publications to: 12920076, 11283794, 37761981, 11528500, 26992781; Changed phenotypes to: RPGRIP1-related retinal dystrophy, OMIM:608194, CONE-ROD DYSTROPHY 13, OMIM:608194, LEBER CONGENITAL AMAUROSIS 6, OMIM:613826
DDG2P v4.10 ODC1 Achchuthan Shanmugasundram edited their review of gene: ODC1: Added comment: The DDG2P mutation consequence for ODC1-related neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 36007106, 34477286, 37469105, 30475435; Changed phenotypes to: ODC1-related developmental disorder (monoallelic), ODC1-related neurodevelopmental disorder
DDG2P v4.10 NOVA2 Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P mutation consequence for NOVA2-associated neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 35607920, 32197073; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-associated neurodevelopmental disorder
DDG2P v4.10 EDAR Achchuthan Shanmugasundram edited their review of gene: EDAR: Added comment: The DDG2P mutation consequence for EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490 has been updated to absent gene product,altered gene product structure.; Changed publications to: 33943035, 28357203, 20033817, 18231121, 16435307, 16029325, 20979233, 19551394, 18816645, 26336973, 32819890, 21771270, 33205897, 17501952, 23210707, 32325225, 20199431, 32906216, 24641098, 10431241, 24764207, 24884697, 27168349, 15373768, 21876339, 31310406; Changed phenotypes to: EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490, EDAR-related hypohidrotic ectodermal dysplasia, OMIM:224900, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
DDG2P v4.10 ASAH1 Achchuthan Shanmugasundram edited their review of gene: ASAH1: Added comment: The DDG2P mutation consequence for ASAH1-related Farber lipogranulomatosis has been updated to absent gene product,altered gene product structure.; Changed publications to: 16951918, 32875576, 22703880, 10610716, 11241842, 8955159; Changed phenotypes to: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000, ASAH1-related Farber lipogranulomatosis, OMIM:228000
DDG2P v4.10 ANKRD11 Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P mutation consequence for KBG SYNDROME, OMIM:148050 has been updated to decreased gene product level.; Changed mode of pathogenicity: Other; Changed publications to: 35394473, 33262785, 27667800, 33476899, 26269249, 28449295, 37665295, 33653342, 30088855, 35682590, 35833929, 25543316, 28815928, 23494856, 28250421, 31566922, 25838844, 32820523, 25464108, 25652421, 33354850, 36584991, 36628575, 34547584, 33955014, 27900361, 34247373, 30877071, 29224748, 23184435, 35598261, 28566769, 25424714, 21782149
DDG2P v4.10 ZBTB47 Achchuthan Shanmugasundram reviewed gene: ZBTB47: Rating: RED; Mode of pathogenicity: Other; Publications: 38327012; Phenotypes: ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 YWHAZ Achchuthan Shanmugasundram reviewed gene: YWHAZ: Rating: RED; Mode of pathogenicity: Other; Publications: 36001342; Phenotypes: YWHAZ-related developmental delay with simplified gyral pattern; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 UBE3C Achchuthan Shanmugasundram reviewed gene: UBE3C: Rating: RED; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RPH3A Achchuthan Shanmugasundram reviewed gene: RPH3A: Rating: RED; Mode of pathogenicity: Other; Publications: 37403762; Phenotypes: RPH3A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PPM1K Achchuthan Shanmugasundram reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: ; Publications: 23086801, 36706222; Phenotypes: PPM1K-related maple syrup urine disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PABPC1 Achchuthan Shanmugasundram reviewed gene: PABPC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35511136; Phenotypes: PABPC1-related developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 MKL2 Achchuthan Shanmugasundram reviewed gene: MKL2: Rating: RED; Mode of pathogenicity: Other; Publications: 37013900; Phenotypes: MRTFB-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LSM11 Achchuthan Shanmugasundram reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: Other; Publications: 33230297; Phenotypes: LSM11-related Aicardi-Goutieres syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 IKZF2 Achchuthan Shanmugasundram reviewed gene: IKZF2: Rating: RED; Mode of pathogenicity: Other; Publications: 37316189; Phenotypes: IKZF2-related ICHAD syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FICD Achchuthan Shanmugasundram reviewed gene: FICD: Rating: RED; Mode of pathogenicity: Other; Publications: 36704923; Phenotypes: FICD-related infancy-onset diabetes and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 DENND5B Achchuthan Shanmugasundram reviewed gene: DENND5B: Rating: RED; Mode of pathogenicity: Other; Publications: 38387458; Phenotypes: DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The DDG2P confidence category for the disease CCDC78-related congenital myopathy, OMIM:614807 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22818856;25635128).; Changed rating: RED; Changed publications to: 22818856, 25635128; Changed phenotypes to: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807, CCDC78-related congenital myopathy, OMIM:614807
DDG2P v4.10 ANGPT2 Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: RED; Mode of pathogenicity: Other; Publications: 34876502; Phenotypes: ANGPT2-related non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 AGPAT3 Achchuthan Shanmugasundram reviewed gene: AGPAT3: Rating: RED; Mode of pathogenicity: ; Publications: 37821758; Phenotypes: AGPAT3-related intellectual disability and retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ZNF808 Achchuthan Shanmugasundram reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: ; Publications: 37308312, 37973953; Phenotypes: ZNF808-related pancreatic agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ZFHX3 Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category for the disease ZFHX3-related neurodevelopmental disorder, OMIM:104155 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38412861;30809043).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 30809043, 38412861, 32502225; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic)
DDG2P v4.10 ZBTB11 Achchuthan Shanmugasundram reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130284, 35104841, 36068688, 29893856, 38899514; Phenotypes: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 YWHAE Achchuthan Shanmugasundram reviewed gene: YWHAE: Rating: GREEN; Mode of pathogenicity: ; Publications: 36999555; Phenotypes: YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 WNT7B Achchuthan Shanmugasundram reviewed gene: WNT7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35790350; Phenotypes: WNT7B-related PDAC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category for the disease U2AF2-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34112922;37962958;36747105;33644862;33057194).; Changed publications to: 36747105, 33057194, 37962958, 33644862, 34112922; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), U2AF2-related neurodevelopmental disorder
DDG2P v4.10 TUBA1A Achchuthan Shanmugasundram edited their review of gene: TUBA1A: Added comment: The DDG2P confidence category for the disease TUBA1A-associated tubulinopathy, OMIM:611603 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33649541;35686685;17218254;18954413;18728072;30744660;30016746;17584854;21403111).; Changed mode of pathogenicity: Other; Changed publications to: 30744660, 17218254, 30016746, 18954413, 21403111, 33649541, 18728072, 17584854, 35686685; Changed phenotypes to: TUBA1A-associated tubulinopathy, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579, LISSENCEPHALY TYPE 3, OMIM:611603
DDG2P v4.10 TTI1 Achchuthan Shanmugasundram reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36724785; Phenotypes: TTI1-related microcephaly, intellectual disability and ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TSPEAR Achchuthan Shanmugasundram reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34042254, 27736875, 37009414; Phenotypes: TSPEAR-related ectodermal dysplasia and tooth agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TOR1A Achchuthan Shanmugasundram reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30244176, 33175450, 33832800, 28516161, 36757831; Phenotypes: TOR1A-associated arthrogryposis multiplex congenita (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TMEM63B Achchuthan Shanmugasundram reviewed gene: TMEM63B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37421948; Phenotypes: TMEM63B-related developmental and epileptic encephalopathy with anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category for the disease TFE3-related intellectual disability with pigmentary mosaicism and coarse features is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 33057194;31833172;32409512;30595499).; Changed publications to: 31833172, 32409512, 30595499, 33057194; Changed phenotypes to: TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features, Intellectual disability with pigmentary mosaicism and storage disorder
DDG2P v4.10 TERT Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category for the disease Dyskeratosis Congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 16247010;30523342;25067791;35927969). The DDG2P confidence category for the disease TERT-related Dyskeratosis congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 35477117;34890115;26546739;17785587).; Changed publications to: 30523342, 26546739, 35477117, 34890115, 16247010, 25067791, 17785587, 35927969; Changed phenotypes to: Dyskeratosis Congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related Dyskeratosis congenita, OMIM:613989; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 TDRD7 Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category for the disease TDRD7-related cataract with or without azoospermia, OMIM:613887 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;uncertain (PMID: 21436445;28418495;31048812).; Changed rating: GREEN; Changed publications to: 31048812, 21436445, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, OMIM:613887, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887
DDG2P v4.10 TDP2 Achchuthan Shanmugasundram reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34606976, 31410782, 32651480, 30109272, 24658003; Phenotypes: TDP2-related spinocerebellar ataxia with seizures and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TBC1D32 Achchuthan Shanmugasundram reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585110, 32573025, 36826837, 32060556, 24285566; Phenotypes: TBC1D32-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 STX1A Achchuthan Shanmugasundram reviewed gene: STX1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36564538; Phenotypes: STX1A-associated neurodevelopmental disorder with epilepsy, STX1A-associated neurodevelopmental disorder without epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 SNAPC4 Achchuthan Shanmugasundram reviewed gene: SNAPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22222761, 36965478; Phenotypes: SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 SLC18A2 Achchuthan Shanmugasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23363473, 36318270; Phenotypes: SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 SCAPER Achchuthan Shanmugasundram edited their review of gene: SCAPER: Added comment: The DDG2P confidence category for the disease SCAPER-related neurodevelopmental disorder and retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28041643;28794130;31069901;21937992;31192531;30561111;30723319;37160720;29302074).; Changed rating: GREEN; Changed publications to: 37160720, 28794130, 29302074, 31069901, 28041643, 30561111, 30723319, 21937992, 31192531; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, SCAPER-related neurodevelopmental disorder and retinitis pigmentosa
DDG2P v4.10 SART3 Achchuthan Shanmugasundram reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37296101; Phenotypes: SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RTEL1 Achchuthan Shanmugasundram edited their review of gene: RTEL1: Added comment: The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664). The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664).; Changed publications to: 23329068, 23453664; Changed phenotypes to: RTEL1-related dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190
DDG2P v4.10 RRAGC Achchuthan Shanmugasundram reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37057673, 27234373; Phenotypes: RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 RPS6KA3 Achchuthan Shanmugasundram edited their review of gene: RPS6KA3: Added comment: The DDG2P confidence category for the disease RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure (PMID: 14986828;10094187;9837815;32858545;26297997;8955270;35888677;11180593;15214012;16879200; 11992250;35038833;23261961;36125370;16691578;31400131;12558110;29678278;9887375;10319851;17717706;26043507;21614984;25044551; 12439904;10528858;17100996).; Changed publications to: 9887375, 17717706, 11180593, 31400131, 15214012, 26297997, 32858545, 14986828, 35038833, 12439904, 26043507, 23261961, 29678278, 35888677, 17100996, 11992250, 16879200, 10094187, 16691578, 9837815, 12558110, 10319851, 36125370, 21614984, 10528858, 25044551, 8955270; Changed phenotypes to: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR, RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600
DDG2P v4.10 RPL26 Achchuthan Shanmugasundram commented on gene: RPL26: The DDG2P confidence category for the disease DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22431104).
DDG2P v4.10 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821540, 38991538; Phenotypes: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 RNH1 Achchuthan Shanmugasundram reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36935417, 37191094; Phenotypes: RNH1-related susceptibility to infection-related encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RABGAP1 Achchuthan Shanmugasundram reviewed gene: RABGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36083289; Phenotypes: RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RAB34 Achchuthan Shanmugasundram reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37619988, 37384395; Phenotypes: RAB34-related orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PSMC3 Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37256937; Phenotypes: PSMC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PRRX1 Achchuthan Shanmugasundram edited their review of gene: PRRX1: Added comment: The DDG2P confidence category for the disease PRRX1-related craniosynostosis is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure;decreased gene product level and incomplete penetrance(PMID: 37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22211708;22674740;21294718;23444262;37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 22211708;23444262).; Changed rating: GREEN; Changed publications to: 37154149, 22674740, 22211708, 23444262, 21294718; Changed phenotypes to: AGNATHIA-OTOCEPHALY COMPLEX biallelic, AGNATHIA-OTOCEPHALY COMPLEX monoallelic, PRRX1-related craniosynostosis; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PRPF19 Achchuthan Shanmugasundram reviewed gene: PRPF19: Rating: GREEN; Mode of pathogenicity: ; Publications: 37962958; Phenotypes: PRPF19-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38181735; Phenotypes: PPFIA3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 POMGNT2 Achchuthan Shanmugasundram commented on gene: POMGNT2: The DDG2P confidence category for the disease WALKER WARBERG SYNDROME, OMIM:614830 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22958903).
DDG2P v4.10 POLA1 Achchuthan Shanmugasundram edited their review of gene: POLA1: Added comment: The DDG2P confidence category for the disease POLA1-related pigmentary disorder, reticulate, with systemic manifestations is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 27019277). The DDG2P confidence category for the disease VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 31006512).; Changed publications to: 27019277, 31006512; Changed phenotypes to: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030, POLA1-related pigmentary disorder, reticulate, with systemic manifestations
DDG2P v4.10 PLAG1 Achchuthan Shanmugasundram reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33291420, 34480472; Phenotypes: PLAG1-associated Silver Russell Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category for the disease PIP5K1C-associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37451268). The DDG2P confidence category for the disease LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure.; Changed rating: GREEN; Changed publications to: 37451268; Changed phenotypes to: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369, PIP5K1C-associated neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334793, 31139695, 32042915, 37125481; Phenotypes: PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PEX14 Achchuthan Shanmugasundram edited their review of gene: PEX14: Added comment: The DDG2P confidence category for the disease PEX14-related autosomal dominant Zellweger spectrum disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37493040). The DDG2P confidence category for the disease PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; Changed publications to: 37493040; Changed phenotypes to: PEX14-related autosomal dominant Zellweger spectrum disorder, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791
DDG2P v4.10 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The DDG2P confidence category for the disease OTOFACIOCERVICAL SYNDROME, OMIM:166780 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 28657137;23851939;29681087). The DDG2P confidence category for the disease PAX1-related oculo-auriculo-vertebral syndrome is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; Changed publications to: 28657137, 29681087, 23851939; Changed phenotypes to: OTOFACIOCERVICAL SYNDROME, OMIM:166780, PAX1-related oculo-auriculo-vertebral syndrome
DDG2P v4.10 NLGN4X Achchuthan Shanmugasundram edited their review of gene: NLGN4X: Added comment: The DDG2P confidence category for the disease NLGN4X-related autism and intellectual disability, OMIM:300495 is strong. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 33369065;12669065;16648374;28263302;14963808;26350204;23352163;32243781).; Changed rating: GREEN; Changed publications to: 32243781, 33369065, 28263302, 14963808, 23352163, 16648374, 12669065, 26350204; Changed phenotypes to: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495, NLGN4X-related autism and intellectual disability, OMIM:300495; 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)
DDG2P v4.10 NDST1 Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category for the disease NDST1-related intellectual disability with or without seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 38129107;27620904;31164858;21937992;28600779;32878022;25125150;28211985).; Changed rating: GREEN; Changed publications to: 27620904, 31164858, 38129107, 28211985, 28600779, 32878022, 21937992, 25125150; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures
DDG2P v4.10 NALCN Achchuthan Shanmugasundram edited their review of gene: NALCN: Added comment: The DDG2P confidence category for the disease CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25683120). The DDG2P confidence category for the disease NALCN-related temporal lobe epilepsy is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37046053). The DDG2P confidence category for the disease HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 23749988;24075186).; Changed publications to: 25683120, 23749988, 37046053, 24075186; Changed phenotypes to: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266, NALCN-related temporal lobe epilepsy
DDG2P v4.10 MYH8 Achchuthan Shanmugasundram edited their review of gene: MYH8: Added comment: The DDG2P confidence category for the disease MYH8-related Trismus-pseudocamptodactyly syndrome is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product;altered gene product structure and potential IF (PMID: 18049072;17041932;20949528).; Changed rating: GREEN; Changed publications to: 18049072, 15282353, 28377322, 17041932, 20949528; Changed phenotypes to: CARNEY COMPLEX VARIANT, OMIM:608837, DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, MYH8-related Trismus-pseudocamptodactyly syndrome
DDG2P v4.10 MYH10 Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category for the disease MYH10-related Multiple congenital anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 35980381;25356899;25003005).; Changed rating: GREEN; Changed publications to: 25356899, 35980381, 25003005
DDG2P v4.10 MTFMT Achchuthan Shanmugasundram reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 30911575, 23499752, 21907147, 24461907, 32133637; Phenotypes: MTFMT-related mitochondrial disease with regression and lactic acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34185323, 35095415; Phenotypes: MAST3-related developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 MAP4K4 Achchuthan Shanmugasundram reviewed gene: MAP4K4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36469137, 28518170, 37126546; Phenotypes: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LRP5 Achchuthan Shanmugasundram edited their review of gene: LRP5: Added comment: The DDG2P confidence category for the disease LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 11719191;15346351;17437160;16929062;18825883;17353424;16679074;20034086). The DDG2P confidence category for the disease LRP5-related osteopetrosis, OMIM:601884 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14727154;12579474;11741193). The DDG2P confidence category for the disease LRP5-related exudative vitreoretinopathy, OMIM:601813 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 9831343;15981244;15346351;9056564;15024691).; Changed publications to: 17437160, 11719191, 14727154, 9831343, 18825883, 16679074, 17353424, 12579474, 15981244, 20034086, 16929062, 11741193, 15346351, 9056564, 15024691; Changed phenotypes to: LRP5-related exudative vitreoretinopathy, OMIM:601813, LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770, HIGH BONE MASS TRAIT, OMIM:601884, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, LRP5-related osteopetrosis, OMIM:601884, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813
DDG2P v4.10 LMOD2 Achchuthan Shanmugasundram reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 35082396, 31517052, 37296576; Phenotypes: LMOD2-related infantile dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 LHX2 Achchuthan Shanmugasundram reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: LHX2-related neurodevelopmental disorder with or without microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LEF1 Achchuthan Shanmugasundram reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550; Phenotypes: LEF1-related ectodermal dysplasia and limb malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category for the disease KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;uncertain (PMID: 38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236).; Changed publications to: 35670385, 30997404, 31953236, 35699517, 30142437, 30300710, 37076692, 29074562, 38333279, 27392078; Changed phenotypes to: KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa)
DDG2P v4.10 KLHL20 Achchuthan Shanmugasundram reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36214804; Phenotypes: KLHL20-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KCTD7 Achchuthan Shanmugasundram edited their review of gene: KCTD7: Added comment: The DDG2P confidence category for the disease KCTD7-related progressive myoclonic epilepsy, OMIM:611726 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 22693283;17455289;32412666;38231304;35921411;30295347;22748208;30500434).; Changed publications to: 30295347, 30500434, 17455289, 22748208, 35921411, 32412666, 38231304, 22693283; Changed phenotypes to: NEURONAL CEROID LIPOFUSCINOSIS, KCTD7-related progressive myoclonic epilepsy, OMIM:611726, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726
DDG2P v4.10 KCNN2 Achchuthan Shanmugasundram reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242881; Phenotypes: KCNN2-related neurodevelopmental disorder with or without movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category for the disease KCNK3-associated developmental delay with sleep apnea is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36195757;33057194).; Changed publications to: 36195757, 33057194; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea
DDG2P v4.10 KCND2 Achchuthan Shanmugasundram reviewed gene: KCND2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34245260, 24501278; Phenotypes: KCND2-related neurodevelopmental disorder with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 INTS11 Achchuthan Shanmugasundram reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37054711, 37980560; Phenotypes: INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 INTS1 Achchuthan Shanmugasundram reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 30622326, 31428919; Phenotypes: INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 IER3IP1 Achchuthan Shanmugasundram reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36416459, 22991235, 24138066, 21835305, 28711742; Phenotypes: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HMGCR Achchuthan Shanmugasundram reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37167966, 36745799; Phenotypes: HMGCR-related limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HECTD4 Achchuthan Shanmugasundram reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36401616; Phenotypes: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HCCS Achchuthan Shanmugasundram edited their review of gene: HCCS: Added comment: The DDG2P confidence category for the disease HCCS-related linear skin defects with microphthalmia, OMIM:309801 is moderate. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 17893649;24735900;17033964).; Changed publications to: 17893649, 24735900, 17033964; Changed phenotypes to: HCCS-related linear skin defects with microphthalmia, OMIM:309801, MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801
DDG2P v4.10 GTPBP1 Achchuthan Shanmugasundram reviewed gene: GTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 GJA1 Achchuthan Shanmugasundram edited their review of gene: GJA1: Added comment: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 11470490). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 14974090;14981729). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 15512999;16816024;14974090;20597923;12457340;36396593;23606748;29902798). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 18425059;7815444;17256797;19338053;12457340;2309863;30204976;28319210;19808103;31347275; 27241686;24434540;16378922;28258662;2157843;15637728;25327171;19847613;28491627;22214631;4209752;16219735;18412120; 34035645;30610049;25976645;16222672;18161618;15551259;21670345;23550541;19638688;30628995;24508941;18946008; 26087145;15108203;29653008;26444782;14729836;16709485).; Changed publications to: 18412120, 26444782, 17256797, 31347275, 19638688, 23606748, 2309863, 29902798, 16378922, 11470490, 30204976, 26087145, 25327171, 15512999, 25976645, 18946008, 20597923, 30610049, 36396593, 4209752, 14729836, 19338053, 34035645, 22214631, 19808103, 14981729, 18161618, 16219735, 28491627, 16816024, 24434540, 2157843, 23550541, 28319210, 24508941, 16222672, 12457340, 7815444, 15108203, 18425059, 28258662, 29653008, 27241686, 21670345, 14974090, 30628995, 16709485, 15637728, 15551259, 19847613; Changed phenotypes to: HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, GJA1-related oculodentodigital dysplasia, OMIM:164200
DDG2P v4.10 GABRA2 Achchuthan Shanmugasundram reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29422393, 29961870, 31032849; Phenotypes: GABRA2-related epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The DDG2P confidence category for the disease FOXP4-related Developmental Disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36301021;33110267).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 33110267, 36301021
DDG2P v4.10 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36197437; Phenotypes: FOSL2-related neurodevelopmental disorder with scalp and enamel defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FILIP1 Achchuthan Shanmugasundram reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452; Phenotypes: FILIP1-related arthrogryposis multiplex congenita with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FIBP Achchuthan Shanmugasundram reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26660953, 38102793, 36919607, 27183861, 37218527, 37876348; Phenotypes: FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FGFR2 Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category for the disease ANTLEY-BIXLER SYNDROME, OMIM:207410 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9605588). The DDG2P confidence category for the disease FGFR2-related Pfeiffer syndrome, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 10945669;9475591;11556600;11380927;10731087;7719333;10394936;9457499;11807866;9150725). The DDG2P confidence category for the disease CROUZON SYNDROME, OMIM:123500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7581378;7987400;9152842;15523492;7874170;8956050;22038757;7607643;7655462;9677057;7773284;10574673;7558045;8528214;17621648). The DDG2P confidence category for the disease APERT SYNDROME, OMIM:101200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7719344;8651276;9452027;9002682;9217234;7668257;9973282). The DDG2P confidence category for the disease JACKSON-WEISS SYNDROME, OMIM:123150 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9385368;7874170). The DDG2P confidence category for the disease BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9545103;12000365;8696350;19610084). The DDG2P confidence category for the disease FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;uncertain.; Changed publications to: 17621648, 12000365, 10394936, 11807866, 9475591, 19610084, 8528214, 9385368, 10574673, 9150725, 10731087, 22038757, 15523492, 9457499, 7668257, 8956050, 7607643, 9002682, 7874170, 8696350, 7558045, 9217234, 8651276, 9605588, 7581378, 9973282, 9452027, 9677057, 7719344, 7719333, 7655462, 9152842, 7987400, 10945669, 9545103, 11380927, 11556600, 7773284; Changed phenotypes to: FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Pfeiffer syndrome, OMIM:101600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, CROUZON SYNDROME, OMIM:123500, JACKSON-WEISS SYNDROME, OMIM:123150, APERT SYNDROME, OMIM:101200
DDG2P v4.10 FDXR Achchuthan Shanmugasundram reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30250212, 28965846, 33938912, 32499495; Phenotypes: FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FBN1 Achchuthan Shanmugasundram edited their review of gene: FBN1: Added comment: The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 12161601;11391655;11710961;18412115;15287423;15032979;17679947;8430317; 8004112;7945217;11175294;12402346;17663468;17189636;15054843;10090884;10766875;23103230;23023332;14695540;17366579; 12413333;11524736;10694921;11453977;1569206;8863159;12446365;8136837;17657824;7633409;16930007;7911051;20979188;8281141; 17701892;14586646;8882780;8428751;10756346;37684520;1631074;8504310;7611299;10364683;7762551;21594993;1301946;7915876;8040326; 8071963;8101042;16617303;10189089;12890380;11700157;16220557;9101298;8406497;10441700;12203992;10425041;7870075;17492313; 21594992;17568394;12915484;11702223;9837823;35058154;15241795;16222657;9241263;20082464;7622614;10721679;10441597; 15161620;11139245;16333834;9452085;1852208). The DDG2P confidence category for the disease FBN1-related Weill-Marchesani syndrome, OMIM:608328 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12525539;22242013;25142510;28696036;23897642;8406497;37734846;34075901). The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 8428751;1631074;8504310;7611299;21594993;7762551;24698609;18412115;15287423;15032979;1301946;31950671;8040326;8430317; 8101042;28636274;27582083;9101298;8406497;20886638;11175294;7977366;10766875;17492313;21594992;17568394;17366579; 11702223;19059503;33436942;9837823;23278365;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188; 8281141;8880577;16333834;1852208).; Changed publications to: 10189089, 17568394, 10441700, 8882780, 17679947, 8101042, 7911051, 8430317, 23897642, 18412115, 20979188, 11710961, 8071963, 15161620, 24698609, 28696036, 12203992, 10756346, 16617303, 27582083, 7611299, 37684520, 16222657, 16220557, 37734846, 34075901, 25142510, 15032979, 20082464, 14586646, 22242013, 15287423, 17657824, 17701892, 10090884, 11453977, 31950671, 19059503, 10721679, 9101298, 12890380, 11700157, 10441597, 7945217, 20886638, 7633409, 17492313, 12413333, 11702223, 12446365, 1301946, 1569206, 17366579, 7622614, 8281141, 10694921, 35058154, 7870075, 33436942, 8040326, 11139245, 21594992, 12525539, 11524736, 23278365, 17189636, 12161601, 8880577, 8406497, 23103230, 11175294, 10766875, 16930007, 21594993, 11391655, 8136837, 23023332, 12915484, 7915876, 15241795, 7977366, 8428751, 7762551, 15054843, 1631074, 8863159, 8504310, 14695540, 10364683, 17663468, 28636274, 10425041, 8004112, 9241263, 12402346, 9452085, 1852208, 16333834, 9837823; Changed phenotypes to: Marfan Syndrome, biallelic, OMIM:154700, FBN1-related Marfan syndrome, OMIM:154700, MARFAN SYNDROME, OMIM:154700, WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, FBN1-related Weill-Marchesani syndrome, OMIM:608328, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212
DDG2P v4.10 EZH1 Achchuthan Shanmugasundram reviewed gene: EZH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37433783, 38814056; Phenotypes: EZH1-related neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 36996813; Phenotypes: ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ERI1 Achchuthan Shanmugasundram reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36208065, 37352860, 28488351; Phenotypes: ERI1-related brachydactyly and mild neurodevelopmental delay, ERI1-related severe growth restriction and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 EIF4A2 Achchuthan Shanmugasundram reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36528028; Phenotypes: Autosomal recessive EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 DOT1L Achchuthan Shanmugasundram reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37827158; Phenotypes: DOT1L-related neurodevelopmental disorder with intracranial anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 DNA2 Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category for the disease DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;37055165;31045292).; Changed rating: GREEN; Changed publications to: 31045292, 24389050, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807
DDG2P v4.10 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750; Phenotypes: DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CWF19L1 Achchuthan Shanmugasundram reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361784, 33012273, 27016154, 26197978, 36453471; Phenotypes: CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 CTR9 Achchuthan Shanmugasundram reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35468861, 35717577, 35499524; Phenotypes: CTR9-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CRIPT Achchuthan Shanmugasundram edited their review of gene: CRIPT: Added comment: The DDG2P confidence category for the disease CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;27250922;36630262;37013901).; Changed rating: GREEN; Changed publications to: 36630262, 24389050, 37013901, 27250922; Changed phenotypes to: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789, CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789
DDG2P v4.10 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease HETEROTAXY SYNDROME, OMIM:207574 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; Changed publications to: 37947183; Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, HETEROTAXY SYNDROME, OMIM:207574; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 CNOT9 Achchuthan Shanmugasundram reviewed gene: CNOT9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37092538; Phenotypes: CNOT9-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CNOT2 Achchuthan Shanmugasundram reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36224108, 31512373, 21299754, 31145527; Phenotypes: CNOT2-related neurodevelopmental disorder with hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CCDC88A Achchuthan Shanmugasundram edited their review of gene: CCDC88A: Added comment: The DDG2P confidence category for the disease CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37798908;30392057;26917597).; Changed rating: GREEN; Changed publications to: 37798908, 30392057, 26917597; Changed phenotypes to: PEHO-like syndrome, OMIM:617507, CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507
DDG2P v4.10 CBX1 Achchuthan Shanmugasundram reviewed gene: CBX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37087635; Phenotypes: CBX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CBFB Achchuthan Shanmugasundram reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36241386; Phenotypes: CBFB-related cleidocranial dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CASP2 Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The DDG2P confidence category for the disease CASP2-related developmental disorder with lissencephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37880421;21937992).; Changed rating: GREEN; Changed publications to: 21937992, 37880421; Changed phenotypes to: CASP2-related developmental disorder with lissencephaly, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v4.10 CAMTA1 Achchuthan Shanmugasundram edited their review of gene: CAMTA1: Added comment: The DDG2P confidence category for the disease CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22693284;38044714).; Changed publications to: 22693284, 38044714; Changed phenotypes to: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756, CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756
DDG2P v4.10 CAMK2D Achchuthan Shanmugasundram reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38272033; Phenotypes: CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 C4orf26 Achchuthan Shanmugasundram edited their review of gene: C4orf26: Added comment: The DDG2P confidence category for the disease ODAPH-related Amyelogenesis Imperfecta, OMIM:614832 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22901946).; Changed phenotypes to: ODAPH-related Amyelogenesis Imperfecta, OMIM:614832, AMYELOGENESIS, OMIM:614832
DDG2P v4.10 BORCS8 Achchuthan Shanmugasundram reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38128568; Phenotypes: BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ARL6 Achchuthan Shanmugasundram edited their review of gene: ARL6: Added comment: The DDG2P confidence category for the disease BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 15258860;16606853;10973238;15314642;9714014;11567139;8298649;12118255;20618352; 18203199;18327255;15137946;20805367;17160889;12524598;16582908;11381270;20671153;12016587; 14520415;7987310;7711739;12567324;21937992;16308660;12837689;10973251;22353939;16380913). The DDG2P confidence category for the disease ARL6-related retinal dystrophy, OMIM:613575 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 31736247;28130426;19956407).; Changed publications to: 17160889, 14520415, 16380913, 20805367, 15258860, 12118255, 18327255, 22353939, 21937992, 8298649, 11381270, 15137946, 16606853, 20671153, 16582908, 15314642, 7987310, 10973238, 12567324, 10973251, 16308660, 12837689, 20618352, 9714014, 12524598, 7711739, 19956407, 31736247, 12016587, 28130426, 18203199, 11567139; Changed phenotypes to: RETINITIS PIGMENTOSA TYPE 55, OMIM:613575, BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, ARL6-related retinal dystrophy, OMIM:613575
DDG2P v4.10 AMFR Achchuthan Shanmugasundram reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 37119330; Phenotypes: AMFR-related spastic paraplegia with/without neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ACTC1 Achchuthan Shanmugasundram reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38278647, 37457373; Phenotypes: ACTC1-related distal arthrogryposis with congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.9 ZNF808 Achchuthan Shanmugasundram gene: ZNF808 was added
gene: ZNF808 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF808 were set to 37308312; 37973953
Phenotypes for gene: ZNF808 were set to ZNF808-related pancreatic agenesis
DDG2P v4.9 ZFHX3 Achchuthan Shanmugasundram Source Expert Review Green was added to ZFHX3.
Mode of pathogenicity for gene ZFHX3 was changed from to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 ZBTB47 Achchuthan Shanmugasundram gene: ZBTB47 was added
gene: ZBTB47 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 38327012
Phenotypes for gene: ZBTB47 were set to ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures
Mode of pathogenicity for gene: ZBTB47 was set to Other
DDG2P v4.9 ZBTB11 Achchuthan Shanmugasundram gene: ZBTB11 was added
gene: ZBTB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 31130284; 35104841; 36068688; 29893856; 38899514
Phenotypes for gene: ZBTB11 were set to ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder
Mode of pathogenicity for gene: ZBTB11 was set to Other
DDG2P v4.9 YWHAZ Achchuthan Shanmugasundram gene: YWHAZ was added
gene: YWHAZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAZ were set to 36001342
Phenotypes for gene: YWHAZ were set to YWHAZ-related developmental delay with simplified gyral pattern
Mode of pathogenicity for gene: YWHAZ was set to Other
DDG2P v4.9 YWHAE Achchuthan Shanmugasundram gene: YWHAE was added
gene: YWHAE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAE were set to 36999555
Phenotypes for gene: YWHAE were set to YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities
DDG2P v4.9 WNT7B Achchuthan Shanmugasundram gene: WNT7B was added
gene: WNT7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to WNT7B-related PDAC syndrome
DDG2P v4.9 UBE3C Achchuthan Shanmugasundram gene: UBE3C was added
gene: UBE3C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to 36401616
Phenotypes for gene: UBE3C were set to UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities
DDG2P v4.9 TTI1 Achchuthan Shanmugasundram gene: TTI1 was added
gene: TTI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI1 were set to 36724785
Phenotypes for gene: TTI1 were set to TTI1-related microcephaly, intellectual disability and ataxia
DDG2P v4.9 TSPEAR Achchuthan Shanmugasundram gene: TSPEAR was added
gene: TSPEAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 34042254; 27736875; 37009414
Phenotypes for gene: TSPEAR were set to TSPEAR-related ectodermal dysplasia and tooth agenesis
DDG2P v4.9 TOR1A Achchuthan Shanmugasundram gene: TOR1A was added
gene: TOR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 33175450; 33832800; 28516161; 36757831
Phenotypes for gene: TOR1A were set to TOR1A-associated arthrogryposis multiplex congenita (AR)
DDG2P v4.9 TMEM63B Achchuthan Shanmugasundram gene: TMEM63B was added
gene: TMEM63B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to TMEM63B-related developmental and epileptic encephalopathy with anaemia
Mode of pathogenicity for gene: TMEM63B was set to Other
DDG2P v4.9 TDRD7 Achchuthan Shanmugasundram Source Expert Review Green was added to TDRD7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 TDP2 Achchuthan Shanmugasundram gene: TDP2 was added
gene: TDP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 34606976; 31410782; 32651480; 30109272; 24658003
Phenotypes for gene: TDP2 were set to TDP2-related spinocerebellar ataxia with seizures and developmental delay
DDG2P v4.9 TBC1D32 Achchuthan Shanmugasundram gene: TBC1D32 was added
gene: TBC1D32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 31585110; 32573025; 36826837; 32060556; 24285566
Phenotypes for gene: TBC1D32 were set to TBC1D32-related ciliopathy
DDG2P v4.9 STX1A Achchuthan Shanmugasundram gene: STX1A was added
gene: STX1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STX1A were set to 36564538
Phenotypes for gene: STX1A were set to STX1A-associated neurodevelopmental disorder with epilepsy; STX1A-associated neurodevelopmental disorder without epilepsy
DDG2P v4.9 SNAPC4 Achchuthan Shanmugasundram gene: SNAPC4 was added
gene: SNAPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 22222761; 36965478
Phenotypes for gene: SNAPC4 were set to SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515
DDG2P v4.9 SLC18A2 Achchuthan Shanmugasundram gene: SLC18A2 was added
gene: SLC18A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 36318270
Phenotypes for gene: SLC18A2 were set to SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis
DDG2P v4.9 SCAPER Achchuthan Shanmugasundram Source Expert Review Green was added to SCAPER.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 SART3 Achchuthan Shanmugasundram gene: SART3 was added
gene: SART3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SART3 were set to 37296101
Phenotypes for gene: SART3 were set to SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
Mode of pathogenicity for gene: SART3 was set to Other
DDG2P v4.9 RRAGC Achchuthan Shanmugasundram gene: RRAGC was added
gene: RRAGC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGC were set to 37057673; 27234373
Phenotypes for gene: RRAGC were set to RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts
Mode of pathogenicity for gene: RRAGC was set to Other
DDG2P v4.9 RPH3A Achchuthan Shanmugasundram gene: RPH3A was added
gene: RPH3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPH3A were set to 37403762
Phenotypes for gene: RPH3A were set to RPH3A-related neurodevelopmental disorder
Mode of pathogenicity for gene: RPH3A was set to Other
DDG2P v4.9 RNU4-2 Achchuthan Shanmugasundram gene: RNU4-2 was added
gene: RNU4-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU4-2 were set to 38821540; 38991538
Phenotypes for gene: RNU4-2 were set to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
Mode of pathogenicity for gene: RNU4-2 was set to Other
DDG2P v4.9 RNH1 Achchuthan Shanmugasundram gene: RNH1 was added
gene: RNH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to 36935417; 37191094
Phenotypes for gene: RNH1 were set to RNH1-related susceptibility to infection-related encephalopathy
DDG2P v4.9 RABGAP1 Achchuthan Shanmugasundram gene: RABGAP1 was added
gene: RABGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss
DDG2P v4.9 RAB34 Achchuthan Shanmugasundram gene: RAB34 was added
gene: RAB34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to RAB34-related orofaciodigital syndrome
Mode of pathogenicity for gene: RAB34 was set to Other
DDG2P v4.9 PSMC3 Achchuthan Shanmugasundram gene: PSMC3 was added
gene: PSMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC3 were set to 37256937
Phenotypes for gene: PSMC3 were set to PSMC3-related neurodevelopmental disorder
Mode of pathogenicity for gene: PSMC3 was set to Other
DDG2P v4.9 PRRX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRRX1.
Mode of inheritance for gene PRRX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 PRPF19 Achchuthan Shanmugasundram gene: PRPF19 was added
gene: PRPF19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRPF19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRPF19 were set to 37962958
Phenotypes for gene: PRPF19 were set to PRPF19-related neurodevelopmental disorder
DDG2P v4.9 PPM1K Achchuthan Shanmugasundram gene: PPM1K was added
gene: PPM1K was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1K were set to 23086801; 36706222
Phenotypes for gene: PPM1K were set to PPM1K-related maple syrup urine disease
DDG2P v4.9 PPFIA3 Achchuthan Shanmugasundram gene: PPFIA3 was added
gene: PPFIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPFIA3 were set to 38181735
Phenotypes for gene: PPFIA3 were set to PPFIA3-related neurodevelopmental disorder
Mode of pathogenicity for gene: PPFIA3 was set to Other
DDG2P v4.9 PLAG1 Achchuthan Shanmugasundram gene: PLAG1 was added
gene: PLAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLAG1 were set to 33291420; 34480472
Phenotypes for gene: PLAG1 were set to PLAG1-associated Silver Russell Syndrome
DDG2P v4.9 PIP5K1C Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C.
Mode of inheritance for gene PIP5K1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 PIGP Achchuthan Shanmugasundram gene: PIGP was added
gene: PIGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695; 32042915; 37125481
Phenotypes for gene: PIGP were set to PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome
DDG2P v4.9 PHF5A Achchuthan Shanmugasundram gene: PHF5A was added
gene: PHF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHF5A were set to 37422718; 33811463
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Mode of pathogenicity for gene: PHF5A was set to Other
DDG2P v4.9 PABPC1 Achchuthan Shanmugasundram gene: PABPC1 was added
gene: PABPC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PABPC1 were set to 35511136
Phenotypes for gene: PABPC1 were set to PABPC1-related developmental delay
Mode of pathogenicity for gene: PABPC1 was set to Other
DDG2P v4.9 ODC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ODC1 was changed from to Other
DDG2P v4.9 NOVA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOVA2 was changed from to Other
DDG2P v4.9 NLGN4X Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN4X.
Mode of inheritance for gene NLGN4X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 NDST1 Achchuthan Shanmugasundram Source Expert Review Green was added to NDST1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MYH8 Achchuthan Shanmugasundram Source Expert Review Green was added to MYH8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MYH10 Achchuthan Shanmugasundram Source Expert Review Green was added to MYH10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MTFMT Achchuthan Shanmugasundram gene: MTFMT was added
gene: MTFMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 30911575; 23499752; 21907147; 24461907; 32133637
Phenotypes for gene: MTFMT were set to MTFMT-related mitochondrial disease with regression and lactic acidosis
DDG2P v4.9 MKL2 Achchuthan Shanmugasundram gene: MKL2 was added
gene: MKL2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MKL2 were set to 37013900
Phenotypes for gene: MKL2 were set to MRTFB-related neurodevelopmental disorder
Mode of pathogenicity for gene: MKL2 was set to Other
DDG2P v4.9 MAST3 Achchuthan Shanmugasundram gene: MAST3 was added
gene: MAST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST3 were set to 34185323; 35095415
Phenotypes for gene: MAST3 were set to MAST3-related developmental and epileptic encephalopathy
Mode of pathogenicity for gene: MAST3 was set to Other
DDG2P v4.9 MAP4K4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4.
Source DD-Gene2Phenotype was added to MAP4K4.
Mode of inheritance for gene MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes MAP4K4-related neurodevelopmental disorder with/without congenital anomalies for gene: MAP4K4
Publications for gene: MAP4K4 were updated from PMID: 37126546 to 36469137; 28518170; PMID: 37126546; 37126546
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v4.9 LSM11 Achchuthan Shanmugasundram gene: LSM11 was added
gene: LSM11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to LSM11-related Aicardi-Goutieres syndrome
Mode of pathogenicity for gene: LSM11 was set to Other
DDG2P v4.9 LMOD2 Achchuthan Shanmugasundram gene: LMOD2 was added
gene: LMOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD2 were set to 35188328; 34888509; 35082396; 31517052; 37296576
Phenotypes for gene: LMOD2 were set to LMOD2-related infantile dilated cardiomyopathy
DDG2P v4.9 LHX2 Achchuthan Shanmugasundram gene: LHX2 was added
gene: LHX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX2 were set to 37057675
Phenotypes for gene: LHX2 were set to LHX2-related neurodevelopmental disorder with or without microcephaly
DDG2P v4.9 LEF1 Achchuthan Shanmugasundram gene: LEF1 was added
gene: LEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEF1 were set to 35583550
Phenotypes for gene: LEF1 were set to LEF1-related ectodermal dysplasia and limb malformation
DDG2P v4.9 KLHL20 Achchuthan Shanmugasundram gene: KLHL20 was added
gene: KLHL20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLHL20 were set to 36214804
Phenotypes for gene: KLHL20 were set to KLHL20-related developmental disorder with seizures
Mode of pathogenicity for gene: KLHL20 was set to Other
DDG2P v4.9 KCNN2 Achchuthan Shanmugasundram gene: KCNN2 was added
gene: KCNN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to KCNN2-related neurodevelopmental disorder with or without movement disorder
DDG2P v4.9 KCND2 Achchuthan Shanmugasundram gene: KCND2 was added
gene: KCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCND2 were set to 34245260; 24501278
Phenotypes for gene: KCND2 were set to KCND2-related neurodevelopmental disorder with or without seizures
Mode of pathogenicity for gene: KCND2 was set to Other
DDG2P v4.9 INTS11 Achchuthan Shanmugasundram gene: INTS11 was added
gene: INTS11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711; 37980560
Phenotypes for gene: INTS11 were set to INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Mode of pathogenicity for gene: INTS11 was set to Other
DDG2P v4.9 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 30622326; 31428919
Phenotypes for gene: INTS1 were set to INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality
DDG2P v4.9 IKZF2 Achchuthan Shanmugasundram gene: IKZF2 was added
gene: IKZF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKZF2 were set to 37316189
Phenotypes for gene: IKZF2 were set to IKZF2-related ICHAD syndrome
Mode of pathogenicity for gene: IKZF2 was set to Other
DDG2P v4.9 IER3IP1 Achchuthan Shanmugasundram gene: IER3IP1 was added
gene: IER3IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 36416459; 22991235; 24138066; 21835305; 28711742
Phenotypes for gene: IER3IP1 were set to IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes
Mode of pathogenicity for gene: IER3IP1 was set to Other
DDG2P v4.9 HMGCR Achchuthan Shanmugasundram gene: HMGCR was added
gene: HMGCR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCR were set to 37167966; 36745799
Phenotypes for gene: HMGCR were set to HMGCR-related limb-girdle muscular dystrophy
Mode of pathogenicity for gene: HMGCR was set to Other
DDG2P v4.9 HECTD4 Achchuthan Shanmugasundram gene: HECTD4 was added
gene: HECTD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum
Mode of pathogenicity for gene: HECTD4 was set to Other
DDG2P v4.9 GTPBP1 Achchuthan Shanmugasundram gene: GTPBP1 was added
gene: GTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP1 were set to 38118446
Phenotypes for gene: GTPBP1 were set to GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.
DDG2P v4.9 GABRA2 Achchuthan Shanmugasundram gene: GABRA2 was added
gene: GABRA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849
Phenotypes for gene: GABRA2 were set to GABRA2-related epileptic encephalopathy
Mode of pathogenicity for gene: GABRA2 was set to Other
DDG2P v4.9 FOXP4 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP4.
Mode of pathogenicity for gene FOXP4 was changed from to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to FOSL2-related neurodevelopmental disorder with scalp and enamel defects
Mode of pathogenicity for gene: FOSL2 was set to Other
DDG2P v4.9 FILIP1 Achchuthan Shanmugasundram gene: FILIP1 was added
gene: FILIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452
Phenotypes for gene: FILIP1 were set to FILIP1-related arthrogryposis multiplex congenita with microcephaly
DDG2P v4.9 FICD Achchuthan Shanmugasundram gene: FICD was added
gene: FICD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36704923
Phenotypes for gene: FICD were set to FICD-related infancy-onset diabetes and neurodevelopmental disorder
Mode of pathogenicity for gene: FICD was set to Other
DDG2P v4.9 FIBP Achchuthan Shanmugasundram gene: FIBP was added
gene: FIBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIBP were set to 26660953; 38102793; 36919607; 27183861; 37218527; 37876348
Phenotypes for gene: FIBP were set to FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)
DDG2P v4.9 FDXR Achchuthan Shanmugasundram gene: FDXR was added
gene: FDXR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 30250212; 28965846; 33938912; 32499495
Phenotypes for gene: FDXR were set to FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Mode of pathogenicity for gene: FDXR was set to Other
DDG2P v4.9 EZH1 Achchuthan Shanmugasundram gene: EZH1 was added
gene: EZH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EZH1 were set to 37433783; 38814056
Phenotypes for gene: EZH1 were set to EZH1-related neurodevelopmental disorder
DDG2P v4.9 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
DDG2P v4.9 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860; 28488351
Phenotypes for gene: ERI1 were set to ERI1-related brachydactyly and mild neurodevelopmental delay; ERI1-related severe growth restriction and skeletal dysplasia
Mode of pathogenicity for gene: ERI1 was set to Other
DDG2P v4.9 EIF4A2 Achchuthan Shanmugasundram gene: EIF4A2 was added
gene: EIF4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF4A2 were set to 36528028
Phenotypes for gene: EIF4A2 were set to Autosomal recessive EIF4A2-related neurodevelopmental disorder; Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy
Mode of pathogenicity for gene: EIF4A2 was set to Other
DDG2P v4.9 DOT1L Achchuthan Shanmugasundram gene: DOT1L was added
gene: DOT1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DOT1L were set to 37827158
Phenotypes for gene: DOT1L were set to DOT1L-related neurodevelopmental disorder with intracranial anomalies
Mode of pathogenicity for gene: DOT1L was set to Other
DDG2P v4.9 DNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to DNA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 DHX9 Achchuthan Shanmugasundram gene: DHX9 was added
gene: DHX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease
DDG2P v4.9 DENND5B Achchuthan Shanmugasundram gene: DENND5B was added
gene: DENND5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DENND5B were set to 38387458
Phenotypes for gene: DENND5B were set to DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities
Mode of pathogenicity for gene: DENND5B was set to Other
DDG2P v4.9 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 33012273; 27016154; 26197978; 36453471
Phenotypes for gene: CWF19L1 were set to CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy
DDG2P v4.9 CTR9 Achchuthan Shanmugasundram gene: CTR9 was added
gene: CTR9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTR9 were set to 35468861; 35717577; 35499524
Phenotypes for gene: CTR9 were set to CTR9-related neurodevelopmental disorder
Mode of pathogenicity for gene: CTR9 was set to Other
DDG2P v4.9 CRIPT Achchuthan Shanmugasundram Source Expert Review Green was added to CRIPT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 CNOT9 Achchuthan Shanmugasundram gene: CNOT9 was added
gene: CNOT9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT9 were set to 37092538
Phenotypes for gene: CNOT9 were set to CNOT9-related developmental disorder with seizures
Mode of pathogenicity for gene: CNOT9 was set to Other
DDG2P v4.9 CNOT2 Achchuthan Shanmugasundram gene: CNOT2 was added
gene: CNOT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT2 were set to 36224108; 31512373; 21299754; 31145527
Phenotypes for gene: CNOT2 were set to CNOT2-related neurodevelopmental disorder with hypotonia
Mode of pathogenicity for gene: CNOT2 was set to Other
DDG2P v4.9 CCDC88A Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 CCDC78 Achchuthan Shanmugasundram Source Expert Review Red was added to CCDC78.
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v4.9 CBX1 Achchuthan Shanmugasundram gene: CBX1 was added
gene: CBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBX1 were set to 37087635
Phenotypes for gene: CBX1 were set to CBX1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CBX1 was set to Other
DDG2P v4.9 CBFB Achchuthan Shanmugasundram gene: CBFB was added
gene: CBFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to CBFB-related cleidocranial dysplasia
Mode of pathogenicity for gene: CBFB was set to Other
DDG2P v4.9 CASP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
Mode of pathogenicity for gene: CAMK2D was set to Other
DDG2P v4.9 BORCS8 Achchuthan Shanmugasundram gene: BORCS8 was added
gene: BORCS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease
Mode of pathogenicity for gene: BORCS8 was set to Other
DDG2P v4.9 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene ANKRD11 was changed from to Other
DDG2P v4.9 ANGPT2 Achchuthan Shanmugasundram gene: ANGPT2 was added
gene: ANGPT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 34876502
Phenotypes for gene: ANGPT2 were set to ANGPT2-related non-immune hydrops fetalis
Mode of pathogenicity for gene: ANGPT2 was set to Other
DDG2P v4.9 AMFR Achchuthan Shanmugasundram gene: AMFR was added
gene: AMFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMFR were set to 37119330
Phenotypes for gene: AMFR were set to AMFR-related spastic paraplegia with/without neurodevelopmental delay
DDG2P v4.9 AGPAT3 Achchuthan Shanmugasundram gene: AGPAT3 was added
gene: AGPAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to 37821758
Phenotypes for gene: AGPAT3 were set to AGPAT3-related intellectual disability and retinitis pigmentosa
DDG2P v4.9 ACTC1 Achchuthan Shanmugasundram gene: ACTC1 was added
gene: ACTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTC1 were set to 38278647; 37457373
Phenotypes for gene: ACTC1 were set to ACTC1-related distal arthrogryposis with congenital heart disease
Mode of pathogenicity for gene: ACTC1 was set to Other
Retinal disorders v6.8 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
Retinal disorders v6.8 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
Retinal disorders v6.7 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG.
Tag Q2_24_NHS_review was removed from STR: ATXN7_CAG.
Retinal disorders v6.7 ATXN7_CAG Sarah Leigh commented on STR: ATXN7_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.6 ATXN2_CAG Sarah Leigh Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v6.6 ATXN2_CAG Sarah Leigh Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v6.5 ATXN2_CAG Sarah Leigh commented on STR: ATXN2_CAG: The rating of this entity has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG.
Tag Q2_24_expert_review was removed from STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh commented on STR: ATXN7_CAG: The rating of this entity has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v6.5 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v6.4 NAA60 Sarah Leigh Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
Adult onset neurodegenerative disorder v6.4 NAA60 Sarah Leigh commented on gene: NAA60: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v6.3 NAA60 Sarah Leigh Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Paediatric disorders - additional genes v5.9 PLD1 Achchuthan Shanmugasundram commented on gene: PLD1
Retinal disorders v6.7 UBAP1L Sarah Leigh Tag Q1_24_promote_green was removed from gene: UBAP1L.
Tag Q1_24_NHS_review was removed from gene: UBAP1L.
Retinal disorders v6.7 TTC21B Sarah Leigh Tag Q1_24_promote_green was removed from gene: TTC21B.
Tag Q1_24_NHS_review was removed from gene: TTC21B.
Retinal disorders v6.7 SUMF1 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SUMF1.
Tag Q2_24_NHS_review was removed from gene: SUMF1.
Retinal disorders v6.7 SLC37A3 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLC37A3.
Tag Q2_24_NHS_review was removed from gene: SLC37A3.
Retinal disorders v6.7 SAMD7 Sarah Leigh Tag Q1_24_promote_green was removed from gene: SAMD7.
Tag Q1_24_NHS_review was removed from gene: SAMD7.
Retinal disorders v6.7 RAX2 Sarah Leigh Tag Q1_24_MOI was removed from gene: RAX2.
Retinal disorders v6.7 PQLC2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: PQLC2.
Retinal disorders v6.7 MT-TL1 Sarah Leigh Tag Q1_24_promote_green was removed from gene: MT-TL1.
Tag Q1_24_NHS_review was removed from gene: MT-TL1.
Retinal disorders v6.7 MT-ATP6 Sarah Leigh Tag Q2_24_promote_green was removed from gene: MT-ATP6.
Tag Q2_24_NHS_review was removed from gene: MT-ATP6.
Retinal disorders v6.7 JAG1 Sarah Leigh Tag Q1_24_promote_green was removed from gene: JAG1.
Tag Q1_24_NHS_review was removed from gene: JAG1.
Retinal disorders v6.7 CNGA1 Sarah Leigh Tag Q1_24_MOI was removed from gene: CNGA1.
Mitochondrial disorders v7.3 BTD Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: BTD.
Tag Q2_24_expert_review was removed from gene: BTD.
Mitochondrial disorders v7.3 ANO10 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: ANO10.
Tag Q2_24_expert_review was removed from gene: ANO10.
Mitochondrial disorders v7.3 MT-TT Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MT-TT.
Mitochondrial disorders v7.3 SPATA5 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SPATA5.
Mitochondrial disorders v7.3 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Mitochondrial disorders v7.3 CYCS Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CYCS.
Mitochondrial disorders v7.3 SPATA5 Achchuthan Shanmugasundram edited their review of gene: SPATA5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.3 MT-TT Achchuthan Shanmugasundram reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Mitochondrial disorders v7.3 MSTO1 Achchuthan Shanmugasundram reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.3 CYCS Achchuthan Shanmugasundram reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v7.3 BTD Achchuthan Shanmugasundram reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v7.3 ANO10 Achchuthan Shanmugasundram reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v6.7 UBAP1L Eleanor Williams reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 SUMF1 Eleanor Williams reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 SLC37A3 Eleanor Williams reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 SAMD7 Eleanor Williams reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 RP1L1 Eleanor Williams reviewed gene: RP1L1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.7 RAX2 Eleanor Williams reviewed gene: RAX2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.7 PQLC2 Eleanor Williams reviewed gene: PQLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.7 MT-TL1 Eleanor Williams reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v6.7 MT-ATP6 Eleanor Williams reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Retinal disorders v6.7 JAG1 Eleanor Williams reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v6.7 CNGA1 Eleanor Williams reviewed gene: CNGA1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v6.6 UBAP1L Sarah Leigh Source Expert Review Green was added to UBAP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 TTC21B Sarah Leigh Source Expert Review Green was added to TTC21B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 SUMF1 Sarah Leigh Source NHS GMS was added to SUMF1.
Source Expert Review Green was added to SUMF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 SLC37A3 Sarah Leigh Source Expert Review Green was added to SLC37A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 SAMD7 Sarah Leigh Source NHS GMS was added to SAMD7.
Source Expert Review Green was added to SAMD7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 RP1L1 Sarah Leigh Mode of inheritance for gene RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.6 RAX2 Sarah Leigh Mode of inheritance for gene RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v6.6 PQLC2 Sarah Leigh Source NHS GMS was added to PQLC2.
Source Expert Review Green was added to PQLC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 MT-TL1 Sarah Leigh Source Expert Review Green was added to MT-TL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 MT-ATP6 Sarah Leigh Source Expert Review Green was added to MT-ATP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 JAG1 Sarah Leigh Source Expert Review Green was added to JAG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v6.6 CNGA1 Sarah Leigh Mode of inheritance for gene CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.2 SPATA5 Achchuthan Shanmugasundram Source NHS GMS was added to SPATA5.
Source Expert Review Green was added to SPATA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v7.2 MT-TT Achchuthan Shanmugasundram Source NHS GMS was added to MT-TT.
Source Expert Review Green was added to MT-TT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v7.2 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v7.2 CYCS Achchuthan Shanmugasundram Source NHS GMS was added to CYCS.
Source Expert Review Green was added to CYCS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v7.2 BTD Achchuthan Shanmugasundram Source NHS GMS was added to BTD.
Source Expert Review Amber was added to BTD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mitochondrial disorders v7.2 ANO10 Achchuthan Shanmugasundram Source NHS GMS was added to ANO10.
Source Expert Review Amber was added to ANO10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Malformations of cortical development v6.3 COL3A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: COL3A1.
Malformations of cortical development v6.3 COL3A1 Achchuthan Shanmugasundram reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development v6.2 COL3A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL3A1.
Source Expert Review Green was added to COL3A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.10 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: SLC6A19.
Tag Q2_24_expert_review was removed from gene: SLC6A19.
Tag Q2_24_NHS_review was removed from gene: SLC6A19.
Likely inborn error of metabolism v6.10 PIGW Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PIGW.
Likely inborn error of metabolism v6.10 MT-TT Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MT-TT.
Likely inborn error of metabolism v6.10 CREB3L3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CREB3L3.
Likely inborn error of metabolism v6.10 ARSG Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ARSG.
Likely inborn error of metabolism v6.10 RNASEH2C Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2C.
Tag Q1_24_NHS_review was removed from gene: RNASEH2C.
Likely inborn error of metabolism v6.10 RNASEH2B Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2B.
Tag Q1_24_NHS_review was removed from gene: RNASEH2B.
Likely inborn error of metabolism v6.10 RNASEH2A Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RNASEH2A.
Tag Q1_24_NHS_review was removed from gene: RNASEH2A.
Likely inborn error of metabolism v6.10 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Likely inborn error of metabolism v6.10 GSTZ1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: GSTZ1.
Tag Q1_24_NHS_review was removed from gene: GSTZ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 STAT4 Eleanor Williams Tag Q1_24_promote_green was removed from gene: STAT4.
Tag Q1_24_NHS_review was removed from gene: STAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 PTCRA Eleanor Williams Tag Q2_24_promote_green was removed from gene: PTCRA.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Eleanor Williams Tag Q2_24_promote_green was removed from gene: NUDCD3.
Likely inborn error of metabolism v6.10 SLC6A19 Achchuthan Shanmugasundram commented on gene: SLC6A19: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.10 RNASEH2C Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 RNASEH2B Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 RNASEH2A Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 PIGW Achchuthan Shanmugasundram commented on gene: PIGW: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.10 MT-TT Achchuthan Shanmugasundram reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Likely inborn error of metabolism v6.10 MSTO1 Achchuthan Shanmugasundram reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.10 GSTZ1 Achchuthan Shanmugasundram commented on gene: GSTZ1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.10 CREB3L3 Achchuthan Shanmugasundram edited their review of gene: CREB3L3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism v6.10 ARSG Achchuthan Shanmugasundram commented on gene: ARSG: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LCP2 Eleanor Williams Tag watchlist was removed from gene: LCP2.
Tag Q1_24_promote_green was removed from gene: LCP2.
Tag Q1_24_NHS_review was removed from gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LACC1 Eleanor Williams Tag Q1_24_promote_green was removed from gene: LACC1.
Tag Q1_24_NHS_review was removed from gene: LACC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Eleanor Williams Tag Q1_24_promote_green was removed from gene: HSPA1L.
Tag Q1_24_NHS_review was removed from gene: HSPA1L.
Likely inborn error of metabolism v6.9 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.9 RNASEH2C Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 RNASEH2B Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 RNASEH2A Achchuthan Shanmugasundram Source Expert Review Green was added to RNASEH2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 PIGW Achchuthan Shanmugasundram Source NHS GMS was added to PIGW.
Source Expert Review Green was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 MT-TT Achchuthan Shanmugasundram Source NHS GMS was added to MT-TT.
Source Expert Review Green was added to MT-TT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 MSTO1 Achchuthan Shanmugasundram Source NHS GMS was added to MSTO1.
Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.9 GSTZ1 Achchuthan Shanmugasundram Source NHS GMS was added to GSTZ1.
Source Expert Review Green was added to GSTZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 CREB3L3 Achchuthan Shanmugasundram Source Expert Review Green was added to CREB3L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.9 ARSG Achchuthan Shanmugasundram Source NHS GMS was added to ARSG.
Source Expert Review Green was added to ARSG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 ANKZF1 Eleanor Williams Tag Q1_24_promote_green was removed from gene: ANKZF1.
Tag Q1_24_NHS_review was removed from gene: ANKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 STAT4 Eleanor Williams reviewed gene: STAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 PTCRA Eleanor Williams reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 NUDCD3 Eleanor Williams reviewed gene: NUDCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LCP2 Eleanor Williams reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LACC1 Eleanor Williams reviewed gene: LACC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Eleanor Williams reviewed gene: HSPA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 ANKZF1 Eleanor Williams reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 STAT4 Eleanor Williams Source Expert Review Green was added to STAT4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 PTCRA Eleanor Williams Source NHS GMS was added to PTCRA.
Source Expert Review Green was added to PTCRA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 NUDCD3 Eleanor Williams Source NHS GMS was added to NUDCD3.
Source Expert Review Green was added to NUDCD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 LCP2 Eleanor Williams Source NHS GMS was added to LCP2.
Source Expert Review Green was added to LCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 LACC1 Eleanor Williams Source NHS GMS was added to LACC1.
Source Expert Review Green was added to LACC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 HSPA1L Eleanor Williams Source NHS GMS was added to HSPA1L.
Source Expert Review Green was added to HSPA1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 ANKZF1 Eleanor Williams Source NHS GMS was added to ANKZF1.
Source Expert Review Green was added to ANKZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.41 SOX9 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: SOX9.
Tag Q2_24_NHS_review was removed from gene: SOX9.
Intellectual disability v7.41 GLI3 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: GLI3.
Tag Q2_24_NHS_review was removed from gene: GLI3.
Intellectual disability v7.41 WDR5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: WDR5.
Intellectual disability v7.41 TBC1D2B Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: TBC1D2B.
Tag Q2_24_NHS_review was removed from gene: TBC1D2B.
Intellectual disability v7.41 STX1A Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: STX1A.
Intellectual disability v7.41 SEPHS1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SEPHS1.
Intellectual disability v7.41 RNU4-2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RNU4-2.
Intellectual disability v7.41 PLXNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PLXNB2.
Intellectual disability v7.41 MAST3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MAST3.
Tag Q2_24_NHS_review was removed from gene: MAST3.
Intellectual disability v7.41 KCNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: KCNB2.
Intellectual disability v7.41 ITSN1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ITSN1.
Tag Q2_24_NHS_review was removed from gene: ITSN1.
Intellectual disability v7.41 GTF3C5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GTF3C5.
Intellectual disability v7.41 GAN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GAN.
Tag Q2_24_NHS_review was removed from gene: GAN.
Intellectual disability v7.41 FEM1B Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FEM1B.
Intellectual disability v7.41 FAM177A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FAM177A1.
Intellectual disability v7.41 EZH1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: EZH1.
Intellectual disability v7.41 DOCK4 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: DOCK4.
Intellectual disability v7.41 DENND5B Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: DENND5B.
Tag Q2_24_NHS_review was removed from gene: DENND5B.
Intellectual disability v7.41 CAMK2D Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CAMK2D.
Intellectual disability v7.41 ANO4 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ANO4.
Tag Q2_24_MOI was removed from gene: ANO4.
Intellectual disability v7.41 ADGRL1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ADGRL1.
Severe microcephaly v6.6 SMC5 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SMC5.
Severe microcephaly v6.6 SLF2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLF2.
Severe microcephaly v6.6 SASS6 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SASS6.
Severe microcephaly v6.6 RNU4-2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: RNU4-2.
Skeletal dysplasia v6.9 NEPRO Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 NEPRO Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 NEPRO Eleanor Williams Deleted their comment
Severe microcephaly v6.6 CAMSAP1 Sarah Leigh Tag Q1_24_promote_green was removed from gene: CAMSAP1.
Skeletal dysplasia v6.9 MGP Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 MGP Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 MGP Eleanor Williams Deleted their comment
Severe microcephaly v6.6 ACBD6 Sarah Leigh Tag Q1_24_promote_green was removed from gene: ACBD6.
Skeletal dysplasia v6.9 CBFB Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 CBFB Eleanor Williams Deleted their comment
Skeletal dysplasia v6.9 CBFB Eleanor Williams Deleted their comment
Severe microcephaly v6.6 ZNF335 Sarah Leigh Tag Q1_24_MOI was removed from gene: ZNF335.
Tag Q1_24_expert_review was removed from gene: ZNF335.
Severe microcephaly v6.6 ZNF335 Eleanor Williams reviewed gene: ZNF335: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 SMC5 Eleanor Williams reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 SLF2 Eleanor Williams reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 SASS6 Eleanor Williams edited their review of gene: SASS6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Severe microcephaly v6.6 RNU4-2 Eleanor Williams edited their review of gene: RNU4-2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v6.6 CAMSAP1 Eleanor Williams reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.6 ACBD6 Eleanor Williams reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.5 ZNF335 Sarah Leigh Mode of inheritance for gene ZNF335 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.5 SMC5 Sarah Leigh Source NHS GMS was added to SMC5.
Source Expert Review Green was added to SMC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 SLF2 Sarah Leigh Source NHS GMS was added to SLF2.
Source Expert Review Green was added to SLF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 SASS6 Sarah Leigh Source Expert Review Green was added to SASS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 RNU4-2 Sarah Leigh Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 CAMSAP1 Sarah Leigh Source NHS GMS was added to CAMSAP1.
Source Expert Review Green was added to CAMSAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v6.5 ACBD6 Sarah Leigh Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.9 CBFB Sarah Leigh Tag Q2_24_promote_green was removed from gene: CBFB.
Tag Q2_24_MOI was removed from gene: CBFB.
Tag Q2_24_NHS_review was removed from gene: CBFB.
Skeletal dysplasia v6.9 MGP Sarah Leigh Tag Q1_24_MOI was removed from gene: MGP.
Skeletal dysplasia v6.9 NEPRO Sarah Leigh Tag Q1_24_promote_green was removed from gene: NEPRO.
Intellectual disability v7.41 ZNFX1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZNFX1.
Tag Q1_24_NHS_review was removed from gene: ZNFX1.
Intellectual disability v7.41 ZFX Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZFX.
Tag Q1_24_NHS_review was removed from gene: ZFX.
Intellectual disability v7.41 ZFHX3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZFHX3.
Tag Q1_24_NHS_review was removed from gene: ZFHX3.
Intellectual disability v7.41 SNF8 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SNF8.
Intellectual disability v7.41 LGI3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: LGI3.
Intellectual disability v7.41 KIRREL3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KIRREL3.
Intellectual disability v7.41 KCNA3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA3.
Tag Q1_24_NHS_review was removed from gene: KCNA3.
Skeletal dysplasia v6.9 NEPRO Eleanor Williams commented on gene: NEPRO: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.9 MGP Eleanor Williams commented on gene: MGP: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.9 CBFB Eleanor Williams commented on gene: CBFB: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 HSD17B10 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: HSD17B10.
Intellectual disability v7.41 DHX37 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: DHX37.
Tag Q1_24_NHS_review was removed from gene: DHX37.
Paediatric or syndromic cardiomyopathy v5.12 PLD1 Eleanor Williams Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Tag Q2_24_NHS_review was removed from gene: PLD1.
Intellectual disability v7.41 CLEC16A Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CLEC16A.
Intellectual disability v7.41 CAMSAP1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CAMSAP1.
Intellectual disability v7.41 BAZ2B Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: BAZ2B.
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams Tag Q2_24_MOI was removed from gene: NEXN.
Tag Q2_24_NHS_review was removed from gene: NEXN.
Paediatric or syndromic cardiomyopathy v5.12 MT-TI Eleanor Williams Tag Q2_24_promote_green was removed from gene: MT-TI.
Paediatric or syndromic cardiomyopathy v5.12 CASZ1 Eleanor Williams Tag Q2_24_promote_green was removed from gene: CASZ1.
Paediatric or syndromic cardiomyopathy v5.12 CAMK2D Eleanor Williams Tag Q2_24_promote_green was removed from gene: CAMK2D.
Intellectual disability v7.41 ACBD6 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ACBD6.
Skeletal dysplasia v6.8 NEPRO Eleanor Williams commented on gene: NEPRO: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.8 MGP Eleanor Williams commented on gene: MGP: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.8 CBFB Eleanor Williams commented on gene: CBFB: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v5.12 PLD1 Eleanor Williams commented on gene: PLD1
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams reviewed gene: NEXN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.12 MT-TI Eleanor Williams reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v5.12 CASZ1 Eleanor Williams reviewed gene: CASZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v5.12 CAMK2D Eleanor Williams reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v6.7 NEPRO Eleanor Williams commented on gene: NEPRO: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.7 MGP Eleanor Williams commented on gene: MGP: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.7 CBFB Eleanor Williams commented on gene: CBFB: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v6.7 NEPRO Eleanor Williams reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v6.7 MGP Eleanor Williams edited their review of gene: MGP: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v6.7 CBFB Eleanor Williams reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.41 ABCC9 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: ABCC9.
Tag Q1_24_NHS_review was removed from gene: ABCC9.
Paediatric or syndromic cardiomyopathy v5.11 NEXN Eleanor Williams Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.11 MT-TI Eleanor Williams Source Expert Review Green was added to MT-TI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.11 CASZ1 Eleanor Williams Source NHS GMS was added to CASZ1.
Source Expert Review Green was added to CASZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.11 CAMK2D Eleanor Williams Source NHS GMS was added to CAMK2D.
Source Expert Review Green was added to CAMK2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.6 NEPRO Sarah Leigh Source NHS GMS was added to NEPRO.
Source Expert Review Green was added to NEPRO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v6.6 MGP Sarah Leigh Mode of inheritance for gene MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v6.6 CBFB Sarah Leigh Source NHS GMS was added to CBFB.
Source Expert Review Green was added to CBFB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.41 ZNFX1 Achchuthan Shanmugasundram reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 ZFX Achchuthan Shanmugasundram edited their review of gene: ZFX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; 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)
Intellectual disability v7.41 ZFHX3 Achchuthan Shanmugasundram reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 WDR5 Achchuthan Shanmugasundram commented on gene: WDR5: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 TBC1D2B Achchuthan Shanmugasundram reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 STX1A Achchuthan Shanmugasundram commented on gene: STX1A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 SOX9 Achchuthan Shanmugasundram reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v7.41 SNF8 Achchuthan Shanmugasundram commented on gene: SNF8: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 SEPHS1 Achchuthan Shanmugasundram reviewed gene: SEPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.41 PLXNB2 Achchuthan Shanmugasundram commented on gene: PLXNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 LGI3 Achchuthan Shanmugasundram commented on gene: LGI3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 KIRREL3 Achchuthan Shanmugasundram reviewed gene: KIRREL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.41 KCNB2 Achchuthan Shanmugasundram commented on gene: KCNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 KCNA3 Achchuthan Shanmugasundram commented on gene: KCNA3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 ITSN1 Achchuthan Shanmugasundram commented on gene: ITSN1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 HSD17B10 Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: ; 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)
Intellectual disability v7.41 GTF3C5 Achchuthan Shanmugasundram commented on gene: GTF3C5: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 GLI3 Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v7.41 GAN Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 FEM1B Achchuthan Shanmugasundram commented on gene: FEM1B: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 FAM177A1 Achchuthan Shanmugasundram commented on gene: FAM177A1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 EZH1 Achchuthan Shanmugasundram commented on gene: EZH1: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 DOCK4 Achchuthan Shanmugasundram commented on gene: DOCK4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 DHX37 Achchuthan Shanmugasundram reviewed gene: DHX37: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 DENND5B Achchuthan Shanmugasundram reviewed gene: DENND5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 CLEC16A Achchuthan Shanmugasundram reviewed gene: CLEC16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 CAMSAP1 Achchuthan Shanmugasundram commented on gene: CAMSAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 CAMK2D Achchuthan Shanmugasundram commented on gene: CAMK2D: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 BAZ2B Achchuthan Shanmugasundram commented on gene: BAZ2B: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 ANO4 Achchuthan Shanmugasundram reviewed gene: ANO4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v7.41 ADGRL1 Achchuthan Shanmugasundram commented on gene: ADGRL1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v7.41 ACBD6 Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.41 ABCC9 Achchuthan Shanmugasundram reviewed gene: ABCC9: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v5.3 HMBS Sarah Leigh Tag Q1_24_promote_green was removed from gene: HMBS.
White matter disorders and cerebral calcification - narrow panel v5.3 NAA60 Sarah Leigh Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
White matter disorders and cerebral calcification - narrow panel v5.3 NAA60 Eleanor Williams reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v5.3 HMBS Eleanor Williams reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
NICE approved PARP inhibitor treatment v0.5 BRCA2 Eleanor Williams reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NICE approved PARP inhibitor treatment v0.5 BRCA1 Eleanor Williams reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NICE approved PARP inhibitor treatment v0.4 BRCA2 Eleanor Williams Source Expert Review Green was added to BRCA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
NICE approved PARP inhibitor treatment v0.4 BRCA1 Eleanor Williams Source Expert Review Green was added to BRCA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v5.2 NAA60 Sarah Leigh Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v5.2 HMBS Sarah Leigh Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological segmental overgrowth v2.16 MAX Eleanor Williams Tag Q2_24_promote_green was removed from gene: MAX.
Tag Q2_24_NHS_review was removed from gene: MAX.
Neurological segmental overgrowth v2.16 MAX Eleanor Williams reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurological segmental overgrowth v2.15 MAX Eleanor Williams Source NHS GMS was added to MAX.
Source Expert Review Green was added to MAX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v4.8 EXOC3L2 Eleanor Williams Tag Q1_24_promote_green was removed from gene: EXOC3L2.
Neurological ciliopathies v4.8 EXOC3L2 Eleanor Williams reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v4.7 EXOC3L2 Eleanor Williams Source NHS GMS was added to EXOC3L2.
Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.29 EMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: EMD.
Congenital muscular dystrophy v4.29 EMD Sarah Leigh Tag Q2_23_promote_green was removed from gene: EMD.
Tag Q2_23_NHS_review was removed from gene: EMD.
Congenital muscular dystrophy v4.29 PYROXD1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PYROXD1.
Tag Q2_23_NHS_review was removed from gene: PYROXD1.
Congenital muscular dystrophy v4.29 POGLUT1 Sarah Leigh Tag Q4_22_promote_green was removed from gene: POGLUT1.
Tag Q4_22_NHS_review was removed from gene: POGLUT1.
Congenital muscular dystrophy v4.29 GOSR2 Sarah Leigh Tag Q4_22_promote_green was removed from gene: GOSR2.
Tag Q1_23_NHS_review was removed from gene: GOSR2.
Congenital muscular dystrophy v4.29 GOLGA2 Sarah Leigh Tag Q4_23_promote_green was removed from gene: GOLGA2.
Tag Q4_23_NHS_review was removed from gene: GOLGA2.
Congenital muscular dystrophy v4.29 EMD Sarah Leigh changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains X-LINKED: hemizygous mutation in males, biallelic mutations in females.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The mode of inheritance of this gene has not been changed and remains X-LINKED: hemizygous mutation in males, biallelic mutations in females. Skewed X inactivation can mimic XLR so it is safer from an analytical perspective to have MOI as hemizygous mutation in males, monoallelic mutations in females may cause disease.
Congenital muscular dystrophy v4.29 DTNA Sarah Leigh Tag Q1_23_promote_green was removed from gene: DTNA.
Tag Q1_23_NHS_review was removed from gene: DTNA.
Congenital muscular dystrophy v4.29 COL4A1 Sarah Leigh Tag Q3_23_promote_green was removed from gene: COL4A1.
Tag Q3_23_NHS_review was removed from gene: COL4A1.
Congenital muscular dystrophy v4.29 COL4A1 Sarah Leigh changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Insufficient evidence for CMD, however decision may be different for other panels as been implicated with muscle cramps.
Congenital muscular dystrophy v4.29 BET1 Sarah Leigh Tag Q4_22_promote_green was removed from gene: BET1.
Tag Q1_23_NHS_review was removed from gene: BET1.
Congenital muscular dystrophy v4.29 DPM3 Sarah Leigh Tag Q1_23_promote_green was removed from gene: DPM3.
Tag Q1_23_NHS_review was removed from gene: DPM3.
Congenital muscular dystrophy v4.28 COL4A1 Sarah Leigh edited their review of gene: COL4A1: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.28 PYROXD1 Sarah Leigh reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 POGLUT1 Sarah Leigh edited their review of gene: POGLUT1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 GOSR2 Sarah Leigh reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 GOLGA2 Sarah Leigh reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 EMD Sarah Leigh commented on gene: EMD
Congenital muscular dystrophy v4.28 DTNA Sarah Leigh reviewed gene: DTNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.28 DPM3 Sarah Leigh edited their review of gene: DPM3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.28 BET1 Sarah Leigh reviewed gene: BET1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.40 ZNFX1 Achchuthan Shanmugasundram Source NHS GMS was added to ZNFX1.
Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ZFX Achchuthan Shanmugasundram Source NHS GMS was added to ZFX.
Source Expert Review Green was added to ZFX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ZFHX3 Achchuthan Shanmugasundram Source NHS GMS was added to ZFHX3.
Source Expert Review Green was added to ZFHX3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 WDR5 Achchuthan Shanmugasundram Source NHS GMS was added to WDR5.
Source Expert Review Green was added to WDR5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 TBC1D2B Achchuthan Shanmugasundram Source NHS GMS was added to TBC1D2B.
Source Expert Review Green was added to TBC1D2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 STX1A Achchuthan Shanmugasundram Source NHS GMS was added to STX1A.
Source Expert Review Green was added to STX1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 SOX9 Achchuthan Shanmugasundram Source Expert Review Amber was added to SOX9.
Source NHS GMS was added to SOX9.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v7.40 SNF8 Achchuthan Shanmugasundram Source NHS GMS was added to SNF8.
Source Expert Review Green was added to SNF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 SEPHS1 Achchuthan Shanmugasundram Source NHS GMS was added to SEPHS1.
Source Expert Review Green was added to SEPHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 RNU4-2 Achchuthan Shanmugasundram Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 PLXNB2 Achchuthan Shanmugasundram Source NHS GMS was added to PLXNB2.
Source Expert Review Green was added to PLXNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 MAST3 Achchuthan Shanmugasundram Source NHS GMS was added to MAST3.
Source Expert Review Green was added to MAST3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 LGI3 Achchuthan Shanmugasundram Source NHS GMS was added to LGI3.
Source Expert Review Green was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 KIRREL3 Achchuthan Shanmugasundram Source NHS GMS was added to KIRREL3.
Source Expert Review Green was added to KIRREL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 KCNB2 Achchuthan Shanmugasundram Source NHS GMS was added to KCNB2.
Source Expert Review Green was added to KCNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 KCNA3 Achchuthan Shanmugasundram Source NHS GMS was added to KCNA3.
Source Expert Review Green was added to KCNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ITSN1 Achchuthan Shanmugasundram Source NHS GMS was added to ITSN1.
Source Expert Review Green was added to ITSN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 HSD17B10 Achchuthan Shanmugasundram Source NHS GMS was added to HSD17B10.
Mode of inheritance for gene HSD17B10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v7.40 GTF3C5 Achchuthan Shanmugasundram Source NHS GMS was added to GTF3C5.
Source Expert Review Green was added to GTF3C5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 GLI3 Achchuthan Shanmugasundram Source Expert Review Amber was added to GLI3.
Source NHS GMS was added to GLI3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v7.40 GAN Achchuthan Shanmugasundram Source NHS GMS was added to GAN.
Source Expert Review Green was added to GAN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 FEM1B Achchuthan Shanmugasundram Source NHS GMS was added to FEM1B.
Source Expert Review Green was added to FEM1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 FAM177A1 Achchuthan Shanmugasundram Source NHS GMS was added to FAM177A1.
Source Expert Review Green was added to FAM177A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 EZH1 Achchuthan Shanmugasundram Source NHS GMS was added to EZH1.
Source Expert Review Green was added to EZH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 DOCK4 Achchuthan Shanmugasundram Source NHS GMS was added to DOCK4.
Source Expert Review Green was added to DOCK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 DHX37 Achchuthan Shanmugasundram Source NHS GMS was added to DHX37.
Mode of inheritance for gene DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.40 DENND5B Achchuthan Shanmugasundram Source NHS GMS was added to DENND5B.
Source Expert Review Green was added to DENND5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 CLEC16A Achchuthan Shanmugasundram Source NHS GMS was added to CLEC16A.
Source Expert Review Green was added to CLEC16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 CAMSAP1 Achchuthan Shanmugasundram Source NHS GMS was added to CAMSAP1.
Source Expert Review Green was added to CAMSAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 CAMK2D Achchuthan Shanmugasundram Source NHS GMS was added to CAMK2D.
Source Expert Review Green was added to CAMK2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 BAZ2B Achchuthan Shanmugasundram Source NHS GMS was added to BAZ2B.
Source Expert Review Green was added to BAZ2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ANO4 Achchuthan Shanmugasundram Source NHS GMS was added to ANO4.
Source Expert Review Green was added to ANO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ADGRL1 Achchuthan Shanmugasundram Source NHS GMS was added to ADGRL1.
Source Expert Review Green was added to ADGRL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ACBD6 Achchuthan Shanmugasundram Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.40 ABCC9 Achchuthan Shanmugasundram Source NHS GMS was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.27 PYROXD1 Sarah Leigh Source NHS GMS was added to PYROXD1.
Source Expert Review Green was added to PYROXD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 POGLUT1 Sarah Leigh Source Expert Review Green was added to POGLUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 GOSR2 Sarah Leigh Source Expert Review Green was added to GOSR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 GOLGA2 Sarah Leigh Source Expert Review Green was added to GOLGA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 EMD Sarah Leigh Source NHS GMS was added to EMD.
Source Expert Review Green was added to EMD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 DTNA Sarah Leigh Source NHS GMS was added to DTNA.
Source Expert Review Green was added to DTNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 DPM3 Sarah Leigh Source Expert Review Green was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.27 BET1 Sarah Leigh Source Expert Review Green was added to BET1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.16 XK Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: XK.
Tag Q2_24_NHS_review was removed from gene: XK.
Hereditary neuropathy or pain disorder v5.16 TYMP Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: TYMP.
Tag Q2_24_NHS_review was removed from gene: TYMP.
Hereditary neuropathy or pain disorder v5.16 SURF1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SURF1.
Tag Q2_24_NHS_review was removed from gene: SURF1.
Hereditary neuropathy or pain disorder v5.16 SLC25A19 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLC25A19.
Tag Q2_24_NHS_review was removed from gene: SLC25A19.
Hereditary neuropathy or pain disorder v5.16 SCARB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SCARB2.
Tag Q2_24_NHS_review was removed from gene: SCARB2.
Hereditary neuropathy or pain disorder v5.16 SACS Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SACS.
Tag Q2_24_NHS_review was removed from gene: SACS.
Hereditary neuropathy or pain disorder v5.16 RTN2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RTN2.
Tag Q2_24_NHS_review was removed from gene: RTN2.
Hereditary neuropathy or pain disorder v5.16 POLR3A Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: POLR3A.
Tag Q2_24_NHS_review was removed from gene: POLR3A.
Hereditary neuropathy or pain disorder v5.16 PNPLA6 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PNPLA6.
Tag Q2_24_NHS_review was removed from gene: PNPLA6.
Hereditary neuropathy or pain disorder v5.16 PMM2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PMM2.
Tag Q2_24_NHS_review was removed from gene: PMM2.
Hereditary neuropathy or pain disorder v5.16 PLP1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PLP1.
Tag Q2_24_NHS_review was removed from gene: PLP1.
Hereditary neuropathy or pain disorder v5.16 PEX7 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PEX7.
Tag Q2_24_NHS_review was removed from gene: PEX7.
Hereditary neuropathy or pain disorder v5.16 PEX10 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PEX10.
Tag Q2_24_NHS_review was removed from gene: PEX10.
Hereditary neuropathy or pain disorder v5.16 PDYN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PDYN.
Tag Q2_24_NHS_review was removed from gene: PDYN.
Hereditary neuropathy or pain disorder v5.16 PDXK Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PDXK.
Hereditary neuropathy or pain disorder v5.16 NAGA Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: NAGA.
Tag Q2_24_NHS_review was removed from gene: NAGA.
Hereditary neuropathy or pain disorder v5.16 MTTP Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MTTP.
Tag Q2_24_NHS_review was removed from gene: MTTP.
Hereditary neuropathy or pain disorder v5.16 MMACHC Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MMACHC.
Tag Q2_24_NHS_review was removed from gene: MMACHC.
Hereditary neuropathy or pain disorder v5.16 LYST Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: LYST.
Tag Q2_24_NHS_review was removed from gene: LYST.
Hereditary neuropathy or pain disorder v5.16 IARS2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: IARS2.
Tag Q2_24_NHS_review was removed from gene: IARS2.
Hereditary neuropathy or pain disorder v5.16 GBA2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GBA2.
Tag Q2_24_NHS_review was removed from gene: GBA2.
Hereditary neuropathy or pain disorder v5.16 GAN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GAN.
Tag Q2_24_NHS_review was removed from gene: GAN.
Hereditary neuropathy or pain disorder v5.16 GALC Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GALC.
Tag Q2_24_NHS_review was removed from gene: GALC.
Hereditary neuropathy or pain disorder v5.16 FXN Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: FXN.
Tag Q2_24_NHS_review was removed from gene: FXN.
Hereditary neuropathy or pain disorder v5.16 CADM3 Achchuthan Shanmugasundram Tag watchlist was removed from gene: CADM3.
Tag Q2_24_promote_green was removed from gene: CADM3.
Tag Q2_24_NHS_review was removed from gene: CADM3.
Hereditary neuropathy or pain disorder v5.16 BCKDHB Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: BCKDHB.
Tag Q2_24_NHS_review was removed from gene: BCKDHB.
Hereditary neuropathy or pain disorder v5.16 B4GALNT1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: B4GALNT1.
Tag Q2_24_NHS_review was removed from gene: B4GALNT1.
Hereditary neuropathy or pain disorder v5.16 APOA1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: APOA1.
Tag Q2_24_NHS_review was removed from gene: APOA1.
Hereditary neuropathy or pain disorder v5.16 AGXT Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: AGXT.
Tag Q2_24_NHS_review was removed from gene: AGXT.
Hereditary neuropathy or pain disorder v5.16 ABHD12 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ABHD12.
Tag Q2_24_NHS_review was removed from gene: ABHD12.
Childhood onset dystonia, chorea or related movement disorder v5.3 HSD17B10 Sarah Leigh Tag Q1_24_promote_green was removed from gene: HSD17B10.
Hereditary neuropathy or pain disorder v5.16 SPG7 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SPG7.
Tag Q1_24_NHS_review was removed from gene: SPG7.
Childhood onset dystonia, chorea or related movement disorder v5.3 ACBD6 Sarah Leigh Tag Q1_24_promote_green was removed from gene: ACBD6.
Hereditary neuropathy or pain disorder v5.16 HMBS Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: HMBS.
Hereditary neuropathy or pain disorder v5.16 COQ7 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: COQ7.
Tag Q1_24_NHS_review was removed from gene: COQ7.
Childhood onset dystonia, chorea or related movement disorder v5.3 PRNP Sarah Leigh Tag Q1_24_demote_red was removed from gene: PRNP.
Tag Q1_24_expert_review was removed from gene: PRNP.
Hereditary neuropathy or pain disorder v5.16 XK Achchuthan Shanmugasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v5.16 TYMP Achchuthan Shanmugasundram reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SURF1 Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SPG7 Achchuthan Shanmugasundram reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SLC25A19 Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SCARB2 Achchuthan Shanmugasundram reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 SACS Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 RTN2 Achchuthan Shanmugasundram commented on gene: RTN2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 POLR3A Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PNPLA6 Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PMM2 Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PLP1 Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v5.16 PEX7 Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PEX10 Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 PDYN Achchuthan Shanmugasundram reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.16 PDXK Achchuthan Shanmugasundram commented on gene: PDXK: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 NAGA Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 MTTP Achchuthan Shanmugasundram reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 MMACHC Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 LYST Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 IARS2 Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 HMBS Achchuthan Shanmugasundram commented on gene: HMBS: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 GBA2 Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 GAN Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 GALC Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 FXN Achchuthan Shanmugasundram reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 COQ7 Achchuthan Shanmugasundram commented on gene: COQ7: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 CADM3 Achchuthan Shanmugasundram commented on gene: CADM3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.16 BCKDHB Achchuthan Shanmugasundram reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 B4GALNT1 Achchuthan Shanmugasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 APOA1 Achchuthan Shanmugasundram reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.16 AGXT Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.16 ABHD12 Achchuthan Shanmugasundram reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v5.3 MT-TT Sarah Leigh Tag Q2_24_promote_green was removed from gene: MT-TT.
Tag Q2_24_expert_review was removed from gene: MT-TT.
Hereditary neuropathy or pain disorder v5.15 XK Achchuthan Shanmugasundram Source Expert Review Green was added to XK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 TYMP Achchuthan Shanmugasundram Source Expert Review Green was added to TYMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SURF1 Achchuthan Shanmugasundram Source Expert Review Green was added to SURF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SPG7 Achchuthan Shanmugasundram Source Expert Review Green was added to SPG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SLC25A19 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SCARB2 Achchuthan Shanmugasundram Source Expert Review Green was added to SCARB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 SACS Achchuthan Shanmugasundram Source Expert Review Green was added to SACS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 RTN2 Achchuthan Shanmugasundram Source NHS GMS was added to RTN2.
Source Expert Review Green was added to RTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 POLR3A Achchuthan Shanmugasundram Source Expert Review Green was added to POLR3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PNPLA6 Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PMM2 Achchuthan Shanmugasundram Source Expert Review Green was added to PMM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PLP1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PEX7 Achchuthan Shanmugasundram Source Expert Review Green was added to PEX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PEX10 Achchuthan Shanmugasundram Source Expert Review Green was added to PEX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PDYN Achchuthan Shanmugasundram Source Expert Review Green was added to PDYN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 PDXK Achchuthan Shanmugasundram Source NHS GMS was added to PDXK.
Source Expert Review Green was added to PDXK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 NAGA Achchuthan Shanmugasundram Source Expert Review Green was added to NAGA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 MTTP Achchuthan Shanmugasundram Source Expert Review Green was added to MTTP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 MMACHC Achchuthan Shanmugasundram Source Expert Review Green was added to MMACHC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 LYST Achchuthan Shanmugasundram Source Expert Review Green was added to LYST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 IARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to IARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 HMBS Achchuthan Shanmugasundram Mode of inheritance for gene HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.15 GBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to GBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 GAN Achchuthan Shanmugasundram Source Expert Review Green was added to GAN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 GALC Achchuthan Shanmugasundram Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 FXN Achchuthan Shanmugasundram Source Expert Review Green was added to FXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 COQ7 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 CADM3 Achchuthan Shanmugasundram Source NHS GMS was added to CADM3.
Source Expert Review Green was added to CADM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 BCKDHB Achchuthan Shanmugasundram Source Expert Review Green was added to BCKDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 B4GALNT1 Achchuthan Shanmugasundram Source Expert Review Green was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 APOA1 Achchuthan Shanmugasundram Source Expert Review Green was added to APOA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 AGXT Achchuthan Shanmugasundram Source Expert Review Green was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v5.15 ABHD12 Achchuthan Shanmugasundram Source Expert Review Green was added to ABHD12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v5.3 MT-TT Sarah Leigh commented on gene: MT-TT: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains grey. Adding this gene to this panel is not consistent with the fact that there are no other similar presenting mitochondrial genes on this panel. Mitochondrial causes of childhood dystonia and movement disorders would be best tested off other more appropriate Clinical Indications.
Childhood onset dystonia, chorea or related movement disorder v5.3 PRNP Sarah Leigh reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v5.3 HSD17B10 Sarah Leigh reviewed gene: HSD17B10: 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)
Childhood onset dystonia, chorea or related movement disorder v5.3 ACBD6 Sarah Leigh edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v5.2 PRNP Sarah Leigh Source NHS GMS was added to PRNP.
Source Expert Review Red was added to PRNP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v5.2 HSD17B10 Sarah Leigh Source NHS GMS was added to HSD17B10.
Source Expert Review Green was added to HSD17B10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v5.2 ACBD6 Sarah Leigh Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v6.7 NAA60 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
Hereditary ataxia with onset in adulthood v6.7 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Hereditary ataxia with onset in adulthood v6.7 NAA60 Achchuthan Shanmugasundram reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v6.7 MSTO1 Achchuthan Shanmugasundram reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v6.6 NAA60 Achchuthan Shanmugasundram Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v6.6 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v6.3 RTN2 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: RTN2.
Tag Q2_24_NHS_review was removed from gene: RTN2.
Childhood onset hereditary spastic paraplegia v6.3 HMBS Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: HMBS.
Childhood onset hereditary spastic paraplegia v6.3 ACBD6 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ACBD6.
Bilateral congenital or childhood onset cataracts v5.4 LIM2 Sarah Leigh Tag Q2_24_MOI was removed from gene: LIM2.
Childhood onset hereditary spastic paraplegia v6.3 RTN2 Achchuthan Shanmugasundram commented on gene: RTN2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v6.3 HMBS Achchuthan Shanmugasundram commented on gene: HMBS: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v6.3 ACBD6 Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v6.2 RTN2 Achchuthan Shanmugasundram Mode of inheritance for gene RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v6.2 HMBS Achchuthan Shanmugasundram Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v6.2 ACBD6 Achchuthan Shanmugasundram Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: TLL1.
Tag Q2_24_NHS_review was removed from gene: TLL1.
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: CELSR1.
Tag Q2_24_NHS_review was removed from gene: CELSR1.
Bilateral congenital or childhood onset cataracts v5.4 LIM2 Sarah Leigh reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v5.3 LIM2 Sarah Leigh Source NHS GMS was added to LIM2.
Mode of inheritance for gene LIM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.3 TANGO2 Sarah Leigh Tag Q2_24_promote_green was removed from gene: TANGO2.
Tag Q2_24_NHS_review was removed from gene: TANGO2.
Ataxia and cerebellar anomalies - narrow panel v6.3 MSTO1 Sarah Leigh Tag Q1_24_MOI was removed from gene: MSTO1.
Ataxia and cerebellar anomalies - narrow panel v6.3 HMBS Sarah Leigh Tag Q1_24_promote_green was removed from gene: HMBS.
Ataxia and cerebellar anomalies - narrow panel v6.3 ATP2B3 Sarah Leigh Tag Q2_24_promote_green was removed from gene: ATP2B3.
Ataxia and cerebellar anomalies - narrow panel v6.3 ACBD6 Sarah Leigh Tag Q1_24_promote_green was removed from gene: ACBD6.
Ataxia and cerebellar anomalies - narrow panel v6.3 TANGO2 Sarah Leigh reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.3 MSTO1 Sarah Leigh commented on gene: MSTO1: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Ataxia and cerebellar anomalies - narrow panel v6.3 HMBS Sarah Leigh reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.3 ATP2B3 Sarah Leigh reviewed gene: ATP2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ataxia and cerebellar anomalies - narrow panel v6.3 ACBD6 Sarah Leigh edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.2 TANGO2 Sarah Leigh Source NHS GMS was added to TANGO2.
Source Expert Review Green was added to TANGO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v6.2 MSTO1 Sarah Leigh Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v6.2 HMBS Sarah Leigh Source NHS GMS was added to HMBS.
Source Expert Review Green was added to HMBS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v6.2 ATP2B3 Sarah Leigh Source NHS GMS was added to ATP2B3.
Source Expert Review Green was added to ATP2B3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v6.2 ACBD6 Sarah Leigh Source NHS GMS was added to ACBD6.
Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.4 SLC18A3 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SLC18A3.
Tag Q2_24_NHS_review was removed from gene: SLC18A3.
Arthrogryposis v7.4 PIP5K1C Sarah Leigh Tag Q2_24_promote_green was removed from gene: PIP5K1C.
Tag Q2_24_NHS_review was removed from gene: PIP5K1C.
Arthrogryposis v7.4 LGI3 Sarah Leigh Tag Q1_24_promote_green was removed from gene: LGI3.
Arthrogryposis v7.4 COASY Sarah Leigh Tag watchlist was removed from gene: COASY.
Tag Q2_24_promote_green was removed from gene: COASY.
Tag Q2_24_NHS_review was removed from gene: COASY.
Arthrogryposis v7.4 SLC35A3 Sarah Leigh reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 SLC18A3 Sarah Leigh reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 PIP5K1C Sarah Leigh reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 LGI3 Sarah Leigh reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.4 COASY Sarah Leigh reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v7.3 SLC35A3 Sarah Leigh Source NHS GMS was added to SLC35A3.
Source Expert Review Green was added to SLC35A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 SLC18A3 Sarah Leigh Source NHS GMS was added to SLC18A3.
Source Expert Review Green was added to SLC18A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 PIP5K1C Sarah Leigh Source NHS GMS was added to PIP5K1C.
Source Expert Review Green was added to PIP5K1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 LGI3 Sarah Leigh Source NHS GMS was added to LGI3.
Source Expert Review Green was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v7.3 COASY Sarah Leigh Source NHS GMS was added to COASY.
Source Expert Review Green was added to COASY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
APOL1 kidney donor testing v0.3 APOL1 Sarah Leigh reviewed gene: APOL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
APOL1 kidney donor testing v0.2 APOL1 Sarah Leigh Source Expert Review Green was added to APOL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF699.
Tag Q3_24_NHS_review was removed from gene: ZNF699.
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF526.
Tag Q3_24_NHS_review was removed from gene: ZNF526.
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF462.
Tag Q3_24_NHS_review was removed from gene: ZNF462.
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF335.
Tag Q3_24_NHS_review was removed from gene: ZNF335.
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ZMYM2.
Tag Q3_24_MOI was removed from gene: ZMYM2.
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZMIZ1.
Tag Q3_24_NHS_review was removed from gene: ZMIZ1.
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WWOX.
Tag Q3_24_NHS_review was removed from gene: WWOX.
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR4.
Tag Q3_24_NHS_review was removed from gene: WDR4.
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR37.
Tag Q3_24_NHS_review was removed from gene: WDR37.
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: VPS4A.
Tag Q3_24_NHS_review was removed from gene: VPS4A.
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: UBA2.
Tag Q3_24_NHS_review was removed from gene: UBA2.
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TSEN15.
Tag Q3_24_NHS_review was removed from gene: TSEN15.
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRRAP.
Tag Q3_24_NHS_review was removed from gene: TRRAP.
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRIM71.
Tag Q3_24_NHS_review was removed from gene: TRIM71.
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TP73.
Tag Q3_24_NHS_review was removed from gene: TP73.
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TOR1AIP1.
Tag Q3_24_NHS_review was removed from gene: TOR1AIP1.
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMTC3.
Tag Q3_24_NHS_review was removed from gene: TMTC3.
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMEM218.
Tag Q3_24_NHS_review was removed from gene: TMEM218.
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: THOC2.
Tag Q3_24_NHS_review was removed from gene: THOC2.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: STT3A.
Tag Q3_24_NHS_review was removed from gene: STT3A.
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPTB.
Tag Q3_24_NHS_review was removed from gene: SPTB.
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPINT2.
Tag Q3_24_NHS_review was removed from gene: SPINT2.
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPEN.
Tag Q3_24_NHS_review was removed from gene: SPEN.
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SOX11.
Tag Q3_24_NHS_review was removed from gene: SOX11.
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMARCD1.
Tag Q3_24_NHS_review was removed from gene: SMARCD1.
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMAD2.
Tag Q3_24_NHS_review was removed from gene: SMAD2.
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SKIV2L.
Tag Q3_24_NHS_review was removed from gene: SKIV2L.
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SIN3A.
Tag Q3_24_NHS_review was removed from gene: SIN3A.
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SHMT2.
Tag Q3_24_NHS_review was removed from gene: SHMT2.
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SEMA3A.
Tag Q3_24_NHS_review was removed from gene: SEMA3A.
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN5A.
Tag Q3_24_NHS_review was removed from gene: SCN5A.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN3A.
Tag Q3_24_NHS_review was removed from gene: SCN3A.
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCAF4.
Tag Q3_24_NHS_review was removed from gene: SCAF4.
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RPL15.
Tag Q3_24_NHS_review was removed from gene: RPL15.
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNU12.
Tag Q3_24_NHS_review was removed from gene: RNU12.
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF125.
Tag Q3_24_NHS_review was removed from gene: RNF125.
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF113A.
Tag Q3_24_NHS_review was removed from gene: RNF113A.
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RLIM.
Tag Q3_24_NHS_review was removed from gene: RLIM.
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RBP4.
Tag Q3_24_NHS_review was removed from gene: RBP4.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD51.
Tag Q3_24_NHS_review was removed from gene: RAD51.
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD50.
Tag Q3_24_NHS_review was removed from gene: RAD50.
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PXDN.
Tag Q3_24_NHS_review was removed from gene: PXDN.
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PTPN23.
Tag Q3_24_NHS_review was removed from gene: PTPN23.
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRR12.
Tag Q3_24_NHS_review was removed from gene: PRR12.
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRF1.
Tag Q3_24_NHS_review was removed from gene: PRF1.
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP3CA.
Tag Q3_24_NHS_review was removed from gene: PPP3CA.
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2R3C.
Tag Q3_24_NHS_review was removed from gene: PPP2R3C.
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2CA.
Tag Q3_24_NHS_review was removed from gene: PPP2CA.
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPIL1.
Tag Q3_24_NHS_review was removed from gene: PPIL1.
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLPBP.
Tag Q3_24_NHS_review was removed from gene: PLPBP.
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLEC.
Tag Q3_24_NHS_review was removed from gene: PLEC.
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIGH.
Tag Q3_24_NHS_review was removed from gene: PIGH.
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIDD1.
Tag Q3_24_NHS_review was removed from gene: PIDD1.
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PHF21A.
Tag Q3_24_NHS_review was removed from gene: PHF21A.
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PGAP1.
Tag Q3_24_NHS_review was removed from gene: PGAP1.
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PDE3A.
Tag Q3_24_NHS_review was removed from gene: PDE3A.
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PCDH12.
Tag Q3_24_NHS_review was removed from gene: PCDH12.
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PAX1.
Tag Q3_24_NHS_review was removed from gene: PAX1.
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS2.
Tag Q3_24_NHS_review was removed from gene: PACS2.
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS1.
Tag Q3_24_NHS_review was removed from gene: PACS1.
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: OTUD6B.
Tag Q3_24_NHS_review was removed from gene: OTUD6B.
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NUP188.
Tag Q3_24_NHS_review was removed from gene: NUP188.
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NSRP1.
Tag Q3_24_NHS_review was removed from gene: NSRP1.
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram Tag watchlist was removed from gene: NONO.
Tag Q3_24_promote_green was removed from gene: NONO.
Tag Q3_24_NHS_review was removed from gene: NONO.
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIB.
Tag Q3_24_NHS_review was removed from gene: NFIB.
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIA.
Tag Q3_24_NHS_review was removed from gene: NFIA.
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYOD1.
Tag Q3_24_promote_green was removed from gene: MYOD1.
Tag Q3_24_NHS_review was removed from gene: MYOD1.
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MPDZ.
Tag Q3_24_NHS_review was removed from gene: MPDZ.
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MINPP1.
Tag Q3_24_NHS_review was removed from gene: MINPP1.
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED27.
Tag Q3_24_NHS_review was removed from gene: MED27.
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED25.
Tag Q3_24_NHS_review was removed from gene: MED25.
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MCIDAS.
Tag Q3_24_NHS_review was removed from gene: MCIDAS.
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAPKAPK5.
Tag Q3_24_NHS_review was removed from gene: MAPKAPK5.
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2C1.
Tag Q3_24_NHS_review was removed from gene: MAN2C1.
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAB21L1.
Tag Q3_24_NHS_review was removed from gene: MAB21L1.
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: LTBP1.
Tag Q3_24_NHS_review was removed from gene: LTBP1.
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIF4A.
Tag Q3_24_NHS_review was removed from gene: KIF4A.
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIDINS220.
Tag Q3_24_NHS_review was removed from gene: KIDINS220.
Tag to_be_confirmed_NHSE was removed from gene: KIDINS220.
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: JAM3.
Tag Q3_24_NHS_review was removed from gene: JAM3.
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IRX5.
Tag Q3_24_NHS_review was removed from gene: IRX5.
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: INTS1.
Tag Q3_24_NHS_review was removed from gene: INTS1.
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IFT74.
Tag Q3_24_NHS_review was removed from gene: IFT74.
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HYAL2.
Tag Q3_24_NHS_review was removed from gene: HYAL2.
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HSPA9.
Tag Q3_24_NHS_review was removed from gene: HSPA9.
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HS2ST1.
Tag Q3_24_NHS_review was removed from gene: HS2ST1.
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HNRNPH2.
Tag Q3_24_NHS_review was removed from gene: HNRNPH2.
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HMX1.
Tag Q3_24_NHS_review was removed from gene: HMX1.
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HK1.
Tag Q3_24_NHS_review was removed from gene: HK1.
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HHAT.
Tag Q3_24_NHS_review was removed from gene: HHAT.
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: H3F3A.
Tag Q3_24_NHS_review was removed from gene: H3F3A.
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GTPBP2.
Tag Q3_24_NHS_review was removed from gene: GTPBP2.
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GRM7.
Tag Q3_24_NHS_review was removed from gene: GRM7.
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GPX4.
Tag Q3_24_NHS_review was removed from gene: GPX4.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GHR.
Tag Q3_24_NHS_review was removed from gene: GHR.
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GFRA1.
Tag Q3_24_NHS_review was removed from gene: GFRA1.
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GDF11.
Tag Q3_24_NHS_review was removed from gene: GDF11.
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GATA1.
Tag Q3_24_NHS_review was removed from gene: GATA1.
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FRA10AC1.
Tag Q3_24_NHS_review was removed from gene: FRA10AC1.
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FOXJ1.
Tag Q3_24_NHS_review was removed from gene: FOXJ1.
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FBRSL1.
Tag Q3_24_NHS_review was removed from gene: FBRSL1.
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAT1.
Tag Q3_24_NHS_review was removed from gene: FAT1.
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAM149B1.
Tag Q3_24_NHS_review was removed from gene: FAM149B1.
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EXOC7.
Tag Q3_24_NHS_review was removed from gene: EXOC7.
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERBB3.
Tag Q3_24_NHS_review was removed from gene: ERBB3.
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERGIC1.
Tag Q3_24_NHS_review was removed from gene: ERGIC1.
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EN1.
Tag Q3_24_promote_green was removed from gene: EN1.
Tag Q3_24_NHS_review was removed from gene: EN1.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EFEMP2.
Tag Q3_24_NHS_review was removed from gene: EFEMP2.
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EEF2.
Tag Q3_24_NHS_review was removed from gene: EEF2.
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I2.
Tag Q3_24_NHS_review was removed from gene: DYNC1I2.
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I1.
Tag Q3_24_NHS_review was removed from gene: DYNC1I1.
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DPF2.
Tag Q3_24_NHS_review was removed from gene: DPF2.
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DLL1.
Tag Q3_24_NHS_review was removed from gene: DLL1.
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DEPDC5.
Tag Q3_24_NHS_review was removed from gene: DEPDC5.
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCC.
Tag Q3_24_NHS_review was removed from gene: DCC.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CYBB.
Tag Q3_24_NHS_review was removed from gene: CYBB.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CTNNA2.
Tag Q3_24_NHS_review was removed from gene: CTNNA2.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COA7.
Tag Q3_24_NHS_review was removed from gene: COA7.
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CLTC.
Tag Q3_24_NHS_review was removed from gene: CLTC.
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP52.
Tag Q3_24_NHS_review was removed from gene: CFAP52.
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP45.
Tag Q3_24_NHS_review was removed from gene: CFAP45.
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CEP85L.
Tag Q3_23_NHS_review was removed from gene: CEP85L.
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC22.
Tag Q3_24_NHS_review was removed from gene: CCDC22.
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C2orf69.
Tag Q3_24_NHS_review was removed from gene: C2orf69.
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C12orf57.
Tag Q3_24_NHS_review was removed from gene: C12orf57.
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRD4.
Tag Q3_24_NHS_review was removed from gene: BRD4.
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRCA1.
Tag Q3_24_NHS_review was removed from gene: BRCA1.
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATN1.
Tag Q3_24_NHS_review was removed from gene: ATN1.
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATAD1.
Tag Q3_24_NHS_review was removed from gene: ATAD1.
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARL3.
Tag Q3_24_NHS_review was removed from gene: ARL3.
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARID2.
Tag Q3_24_NHS_review was removed from gene: ARID2.
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: APC2.
Tag Q3_24_NHS_review was removed from gene: APC2.
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4S1.
Tag Q3_24_NHS_review was removed from gene: AP4S1.
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4B1.
Tag Q3_24_NHS_review was removed from gene: AP4B1.
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ANGPT2.
Tag Q3_24_NHS_review was removed from gene: ANGPT2.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALPK3.
Tag Q3_24_NHS_review was removed from gene: ALPK3.
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALG14.
Tag Q3_24_NHS_review was removed from gene: ALG14.
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALDH1A2.
Tag Q3_24_NHS_review was removed from gene: ALDH1A2.
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AFF3.
Tag Q3_24_NHS_review was removed from gene: AFF3.
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ADCY6.
Tag Q3_24_NHS_review was removed from gene: ADCY6.
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ACVRL1.
Tag Q3_24_NHS_review was removed from gene: ACVRL1.
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram edited their review of gene: ZNF699: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram edited their review of gene: ZNF462: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram edited their review of gene: ZNF335: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram edited their review of gene: ZMYM2: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram edited their review of gene: ZMIZ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram edited their review of gene: WWOX: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram edited their review of gene: WDR4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram edited their review of gene: UBA2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram edited their review of gene: TRIM71: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram edited their review of gene: TP73: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram edited their review of gene: TOR1AIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram edited their review of gene: TMTC3: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram edited their review of gene: TMEM218: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram edited their review of gene: SPTB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram edited their review of gene: SPINT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram edited their review of gene: SPEN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram edited their review of gene: SMAD2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram edited their review of gene: SKIV2L: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram edited their review of gene: SIN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram edited their review of gene: SEMA3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram edited their review of gene: RPL15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; 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 v4.192 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram edited their review of gene: RAD51: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram edited their review of gene: RAD50: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram edited their review of gene: PXDN: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram edited their review of gene: PTPN23: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram edited their review of gene: PRR12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram edited their review of gene: PRF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram edited their review of gene: PPP2CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram edited their review of gene: PPIL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram edited their review of gene: PLPBP: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram edited their review of gene: PLEC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram edited their review of gene: PIGH: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram edited their review of gene: PIDD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram edited their review of gene: PHF21A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram edited their review of gene: PGAP1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram edited their review of gene: PDE3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram edited their review of gene: PCDH12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram edited their review of gene: PACS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram edited their review of gene: OTUD6B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram edited their review of gene: NUP188: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram edited their review of gene: NONO: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; 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 v4.192 NFIB Achchuthan Shanmugasundram edited their review of gene: NFIB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram edited their review of gene: NFIA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram edited their review of gene: MYOD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram edited their review of gene: MPDZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram edited their review of gene: MINPP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram edited their review of gene: MED27: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram edited their review of gene: MCIDAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram edited their review of gene: MAN2C1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram edited their review of gene: MAB21L1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram edited their review of gene: LTBP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram edited their review of gene: KIF4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram edited their review of gene: KIDINS220: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram edited their review of gene: JAM3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram edited their review of gene: INTS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram edited their review of gene: HYAL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram edited their review of gene: HS2ST1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; 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 v4.192 HMX1 Achchuthan Shanmugasundram edited their review of gene: HMX1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram edited their review of gene: HHAT: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram edited their review of gene: GTPBP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram edited their review of gene: GRM7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram edited their review of gene: GHR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram edited their review of gene: GFRA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram edited their review of gene: GDF11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram edited their review of gene: GATA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram edited their review of gene: FOXJ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram edited their review of gene: FBRSL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram edited their review of gene: FAT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram edited their review of gene: EXOC7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram edited their review of gene: ERGIC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram commented on gene: EN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram edited their review of gene: EFEMP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram edited their review of gene: EEF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram edited their review of gene: DYNC1I2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram edited their review of gene: DPF2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram edited their review of gene: DEPDC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram commented on gene: DCC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram edited their review of gene: COA7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram edited their review of gene: CLTC: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram edited their review of gene: CFAP52: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram edited their review of gene: CFAP45: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram edited their review of gene: CEP85L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram edited their review of gene: BRD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram edited their review of gene: ATAD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram edited their review of gene: ARID2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram edited their review of gene: APC2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram edited their review of gene: AP4S1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram edited their review of gene: AP4B1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram edited their review of gene: ALPK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram edited their review of gene: ALG14: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram edited their review of gene: ADCY6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram edited their review of gene: ACVRL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZNF699 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF699.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF526 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF462 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF335 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZMYM2 Achchuthan Shanmugasundram Mode of inheritance for gene ZMYM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZMIZ1 Achchuthan Shanmugasundram Source Expert Review Green was added to ZMIZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WWOX Achchuthan Shanmugasundram Source NHS GMS was added to WWOX.
Source Expert Review Green was added to WWOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR4 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR37 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 VPS4A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBR7 Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to UBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TSEN15 Achchuthan Shanmugasundram Source NHS GMS was added to TSEN15.
Source Expert Review Green was added to TSEN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRRAP Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRIM71 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TP73 Achchuthan Shanmugasundram Source Expert Review Green was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TOR1AIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMTC3 Achchuthan Shanmugasundram Source NHS GMS was added to TMTC3.
Source Expert Review Green was added to TMTC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMEM218 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TLL1 Achchuthan Shanmugasundram Source Expert Review Amber was added to TLL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 THOC2 Achchuthan Shanmugasundram Source NHS GMS was added to THOC2.
Source Expert Review Green was added to THOC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 STT3A Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPTB Achchuthan Shanmugasundram Source Expert Review Green was added to SPTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPINT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SPINT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPEN Achchuthan Shanmugasundram Source Expert Review Green was added to SPEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SOX11 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMAD2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMAD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SKIV2L Achchuthan Shanmugasundram Source Expert Review Green was added to SKIV2L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SIN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SHMT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SEMA3A Achchuthan Shanmugasundram Source Expert Review Green was added to SEMA3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN5A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCAF4 Achchuthan Shanmugasundram Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RPL15 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNU12 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF125 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF125.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF113A Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RLIM Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to RBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD51 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD50 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PXDN Achchuthan Shanmugasundram Source NHS GMS was added to PXDN.
Source Expert Review Green was added to PXDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PTPN23 Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRR12 Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP3CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2R3C Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2R3C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPIL1 Achchuthan Shanmugasundram Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLPBP Achchuthan Shanmugasundram Source NHS GMS was added to PLPBP.
Source Expert Review Green was added to PLPBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLEC Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIGH Achchuthan Shanmugasundram Source Expert Review Green was added to PIGH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIDD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PHF21A Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PGAP1 Achchuthan Shanmugasundram Source NHS GMS was added to PGAP1.
Source Expert Review Green was added to PGAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PDE3A Achchuthan Shanmugasundram Source Expert Review Green was added to PDE3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PCDH12 Achchuthan Shanmugasundram Source Expert Review Green was added to PCDH12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PAX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS2 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 OTUD6B Achchuthan Shanmugasundram Source NHS GMS was added to OTUD6B.
Source Expert Review Green was added to OTUD6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NUP188 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NSRP1 Achchuthan Shanmugasundram Source Expert Review Green was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NONO Achchuthan Shanmugasundram Source Expert Review Green was added to NONO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIB Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIA Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MYOD1 Achchuthan Shanmugasundram Source NHS GMS was added to MYOD1.
Source Expert Review Green was added to MYOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MPDZ Achchuthan Shanmugasundram Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MINPP1 Achchuthan Shanmugasundram Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED27 Achchuthan Shanmugasundram Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED25 Achchuthan Shanmugasundram Source Expert Review Green was added to MED25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MCIDAS Achchuthan Shanmugasundram Source Expert Review Green was added to MCIDAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAPKAPK5 Achchuthan Shanmugasundram Source Expert Review Green was added to MAPKAPK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAN2C1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAN2C1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAB21L1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 LTBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIF4A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIDINS220 Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 JAM3 Achchuthan Shanmugasundram Source NHS GMS was added to JAM3.
Source Expert Review Green was added to JAM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IRX5 Achchuthan Shanmugasundram Source NHS GMS was added to IRX5.
Source Expert Review Green was added to IRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 INTS1 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IFT74 Achchuthan Shanmugasundram Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HYAL2 Achchuthan Shanmugasundram Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HS2ST1 Achchuthan Shanmugasundram Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HNRNPH2 Achchuthan Shanmugasundram Source NHS GMS was added to HNRNPH2.
Source Expert Review Green was added to HNRNPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HMX1 Achchuthan Shanmugasundram Source NHS GMS was added to HMX1.
Source Expert Review Green was added to HMX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HK1 Achchuthan Shanmugasundram Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HHAT Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 H3F3A Achchuthan Shanmugasundram Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GTPBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTPBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GRM7 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GPX4 Achchuthan Shanmugasundram Source NHS GMS was added to GPX4.
Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GHR Achchuthan Shanmugasundram Source Expert Review Green was added to GHR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GFRA1 Achchuthan Shanmugasundram Source NHS GMS was added to GFRA1.
Source Expert Review Green was added to GFRA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GDF11 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GATA1 Achchuthan Shanmugasundram Source NHS GMS was added to GATA1.
Source Expert Review Green was added to GATA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FRA10AC1 Achchuthan Shanmugasundram Source Expert Review Green was added to FRA10AC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FOXJ1 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FBRSL1 Achchuthan Shanmugasundram Source Expert Review Green was added to FBRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EXOC7 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOC7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERGIC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EN1 Achchuthan Shanmugasundram Source NHS GMS was added to EN1.
Source Expert Review Green was added to EN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EFEMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to EFEMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I1 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DLL1 Achchuthan Shanmugasundram Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DEPDC5 Achchuthan Shanmugasundram Source NHS GMS was added to DEPDC5.
Source Expert Review Green was added to DEPDC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DCC Achchuthan Shanmugasundram Source NHS GMS was added to DCC.
Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CYBB Achchuthan Shanmugasundram Source Expert Review Green was added to CYBB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 COA7 Achchuthan Shanmugasundram Source Expert Review Green was added to COA7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP52 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP45 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CEP85L Achchuthan Shanmugasundram Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CELSR1 Achchuthan Shanmugasundram Source Expert Review Amber was added to CELSR1.
Source NHS GMS was added to CELSR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 CCDC22 Achchuthan Shanmugasundram Source NHS GMS was added to CCDC22.
Source Expert Review Green was added to CCDC22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C2orf69 Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C12orf57 Achchuthan Shanmugasundram Source NHS GMS was added to C12orf57.
Source Expert Review Green was added to C12orf57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRCA1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATAD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4S1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4S1.
Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4B1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4B1.
Source Expert Review Green was added to AP4B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ANGPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to ANGPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALPK3 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALG14 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALDH1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALDH1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ADCY6 Achchuthan Shanmugasundram Source Expert Review Green was added to ADCY6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ACVRL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVRL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.6 RNU4-2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RNU4-2.
Early onset or syndromic epilepsy v6.6 MAST3 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MAST3.
Tag Q2_24_MOI was removed from gene: MAST3.
Tag Q2_24_NHS_review was removed from gene: MAST3.
Early onset or syndromic epilepsy v6.6 ANO4 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ANO4.
Tag Q2_24_MOI was removed from gene: ANO4.
Early onset or syndromic epilepsy v6.6 PRICKLE1 Achchuthan Shanmugasundram Tag Q1_24_demote_amber was removed from gene: PRICKLE1.
Tag Q1_24_expert_review was removed from gene: PRICKLE1.
Early onset or syndromic epilepsy v6.6 ZNFX1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZNFX1.
Tag Q1_24_NHS_review was removed from gene: ZNFX1.
Early onset or syndromic epilepsy v6.6 KCNA3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA3.
Tag Q1_24_NHS_review was removed from gene: KCNA3.
Early onset or syndromic epilepsy v6.6 KCNA1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA1.
Tag Q1_24_NHS_review was removed from gene: KCNA1.
Early onset or syndromic epilepsy v6.6 HSD17B10 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: HSD17B10.
Early onset or syndromic epilepsy v6.6 COL4A3BP Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: COL4A3BP.
Early onset or syndromic epilepsy v6.6 CAMSAP1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CAMSAP1.
Early onset or syndromic epilepsy v6.6 ANK2 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ANK2.
Early onset or syndromic epilepsy v6.6 ZNFX1 Achchuthan Shanmugasundram reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v6.6 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.6 PRICKLE1 Achchuthan Shanmugasundram reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v6.6 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v6.6 KCNA3 Achchuthan Shanmugasundram commented on gene: KCNA3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.6 KCNA1 Achchuthan Shanmugasundram commented on gene: KCNA1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.6 HSD17B10 Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v6.6 COL4A3BP Achchuthan Shanmugasundram reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.6 CAMSAP1 Achchuthan Shanmugasundram commented on gene: CAMSAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.6 ANO4 Achchuthan Shanmugasundram reviewed gene: ANO4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v6.6 ANK2 Achchuthan Shanmugasundram commented on gene: ANK2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v6.5 ZNFX1 Achchuthan Shanmugasundram Source NHS GMS was added to ZNFX1.
Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 RNU4-2 Achchuthan Shanmugasundram Source NHS GMS was added to RNU4-2.
Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 PRICKLE1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PRICKLE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.5 MAST3 Achchuthan Shanmugasundram Source NHS GMS was added to MAST3.
Source Expert Review Green was added to MAST3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 KCNA3 Achchuthan Shanmugasundram Source NHS GMS was added to KCNA3.
Source Expert Review Green was added to KCNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 KCNA1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 HSD17B10 Achchuthan Shanmugasundram Source NHS GMS was added to HSD17B10.
Source Expert Review Green was added to HSD17B10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 COL4A3BP Achchuthan Shanmugasundram Source NHS GMS was added to COL4A3BP.
Source Expert Review Green was added to COL4A3BP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 CAMSAP1 Achchuthan Shanmugasundram Source NHS GMS was added to CAMSAP1.
Source Expert Review Green was added to CAMSAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 ANO4 Achchuthan Shanmugasundram Source NHS GMS was added to ANO4.
Source Expert Review Green was added to ANO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v6.5 ANK2 Achchuthan Shanmugasundram Source NHS GMS was added to ANK2.
Source Expert Review Green was added to ANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Classified STR: CNBP_CCTG as Green List (high evidence)
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Str: cnbp_cctg has been classified as Green List (High Evidence).
Cystic kidney disease v6.3 CLCN5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CLCN5.
Tag Q2_24_NHS_review was removed from gene: CLCN5.
Cystic kidney disease v6.3 CLCN5 Achchuthan Shanmugasundram reviewed gene: CLCN5: 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)
Cystic kidney disease v6.2 CLCN5 Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5.
Source Expert Review Green was added to CLCN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber was removed from gene: CCDC78.
Tag Q4_22_expert_review was removed from gene: CCDC78.
Congenital myopathy v4.42 UNC45B Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: UNC45B.
Tag Q4_22_expert_review was removed from gene: UNC45B.
Tag Q4_22_NHS_review was removed from gene: UNC45B.
Congenital myopathy v4.42 MLIP Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: MLIP.
Congenital myopathy v4.42 LETM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1.
Tag Q3_23_NHS_review was removed from gene: LETM1.
Tag Q3_23_MOI was removed from gene: LETM1.
Congenital myopathy v4.42 ZC4H2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ZC4H2.
Tag Q2_23_NHS_review was removed from gene: ZC4H2.
Congenital myopathy v4.42 TRDN Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TRDN.
Tag Q2_23_NHS_review was removed from gene: TRDN.
Congenital myopathy v4.42 TPM2 Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: TPM2.
Tag Q2_23_MOI was removed from gene: TPM2.
Tag Q2_23_NHS_review was removed from gene: TPM2.
Congenital myopathy v4.42 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: TNNT1.
Tag Q2_23_NHS_review was removed from gene: TNNT1.
Congenital myopathy v4.42 MYH7 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: MYH7.
Tag Q2_23_NHS_review was removed from gene: MYH7.
Congenital myopathy v4.42 MYH3 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: MYH3.
Tag Q2_23_NHS_review was removed from gene: MYH3.
Congenital myopathy v4.42 SPTBN4 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SPTBN4.
Congenital myopathy v4.42 KY Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: KY.
Tag Q1_23_NHS_review was removed from gene: KY.
Congenital myopathy v4.42 GBE1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: GBE1.
Tag Q1_23_NHS_review was removed from gene: GBE1.
Congenital myopathy v4.42 DNAJB4 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: DNAJB4.
Tag Q1_23_NHS_review was removed from gene: DNAJB4.
Congenital myopathy v4.42 COL25A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COL25A1.
Tag Q1_23_NHS_review was removed from gene: COL25A1.
Congenital myopathy v4.42 COL13A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COL13A1.
Tag Q1_23_NHS_review was removed from gene: COL13A1.
Congenital myopathy v4.42 ASCC1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ASCC1.
Tag Q1_23_NHS_review was removed from gene: ASCC1.
Congenital myopathy v4.42 GFER Achchuthan Shanmugasundram reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v4.42 ZC4H2 Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Congenital myopathy v4.42 UNC45B Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 TRDN Achchuthan Shanmugasundram commented on gene: TRDN: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 TPM2 Achchuthan Shanmugasundram commented on gene: TPM2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 TNNT1 Achchuthan Shanmugasundram commented on gene: TNNT1: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 SPTBN4 Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 MYH7 Achchuthan Shanmugasundram reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.42 MYH3 Achchuthan Shanmugasundram commented on gene: MYH3: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 MLIP Achchuthan Shanmugasundram commented on gene: MLIP: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 LETM1 Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 KY Achchuthan Shanmugasundram reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 GBE1 Achchuthan Shanmugasundram commented on gene: GBE1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 DNAJB4 Achchuthan Shanmugasundram edited their review of gene: DNAJB4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 COL25A1 Achchuthan Shanmugasundram edited their review of gene: COL25A1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.42 COL13A1 Achchuthan Shanmugasundram commented on gene: COL13A1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v4.42 ASCC1 Achchuthan Shanmugasundram commented on gene: ASCC1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital myopathy v4.41 ZC4H2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZC4H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 UNC45B Achchuthan Shanmugasundram Source Expert Review Green was added to UNC45B.
Source NHS GMS was added to UNC45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 TRDN Achchuthan Shanmugasundram Source Expert Review Green was added to TRDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 TPM2 Achchuthan Shanmugasundram Mode of inheritance for gene TPM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 TNNT1 Achchuthan Shanmugasundram Mode of inheritance for gene TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 SPTBN4 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTBN4.
Source NHS GMS was added to SPTBN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 MYH7 Achchuthan Shanmugasundram Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.41 MLIP Achchuthan Shanmugasundram Source Expert Review Green was added to MLIP.
Source NHS GMS was added to MLIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 LETM1 Achchuthan Shanmugasundram Source Expert Review Green was added to LETM1.
Source NHS GMS was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 KY Achchuthan Shanmugasundram Source Expert Review Green was added to KY.
Source NHS GMS was added to KY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 GBE1 Achchuthan Shanmugasundram Source Expert Review Green was added to GBE1.
Source NHS GMS was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 DNAJB4 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJB4.
Source NHS GMS was added to DNAJB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 COL25A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1.
Source NHS GMS was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 COL13A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1.
Source NHS GMS was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 CCDC78 Achchuthan Shanmugasundram Source Expert Review Amber was added to CCDC78.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Congenital myopathy v4.41 ASCC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ASCC1.
Source NHS GMS was added to ASCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease - additional genes v0.67 PRDM15 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PRDM15.
Unexplained young onset end-stage renal disease - additional genes v0.67 NOS1AP Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: NOS1AP.
Unexplained young onset end-stage renal disease - additional genes v0.67 PRDM15 Achchuthan Shanmugasundram commented on gene: PRDM15: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval for this change on R257 Unexplained young onset end-stage renal disease panel.
Unexplained young onset end-stage renal disease - additional genes v0.67 NOS1AP Achchuthan Shanmugasundram commented on gene: NOS1AP: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval for this change on R257 Unexplained young onset end-stage renal disease panel.
Unexplained young onset end-stage renal disease - additional genes v0.66 PRDM15 Achchuthan Shanmugasundram Source Expert Review Green was added to PRDM15.
Source NHS GMS was added to PRDM15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease - additional genes v0.66 NOS1AP Achchuthan Shanmugasundram Source Expert Review Green was added to NOS1AP.
Source NHS GMS was added to NOS1AP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease - additional genes v0.65 ISCA-37401-Loss Achchuthan Shanmugasundram reviewed Region: ISCA-37401-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Unexplained young onset end-stage renal disease - additional genes v0.65 UPK3A Achchuthan Shanmugasundram reviewed gene: UPK3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 UPK2 Achchuthan Shanmugasundram reviewed gene: UPK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Other
Unexplained young onset end-stage renal disease - additional genes v0.65 TSHZ3 Achchuthan Shanmugasundram reviewed gene: TSHZ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 TNXB Achchuthan Shanmugasundram reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SPRY1 Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SOX17 Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SMARCA4 Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SLIT2 Achchuthan Shanmugasundram reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SIX1 Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SHH Achchuthan Shanmugasundram reviewed gene: SHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 ROBO2 Achchuthan Shanmugasundram reviewed gene: ROBO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 MYH11 Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 KIT Achchuthan Shanmugasundram reviewed gene: KIT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 HCN3 Achchuthan Shanmugasundram reviewed gene: HCN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 GREM1 Achchuthan Shanmugasundram reviewed gene: GREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 GDNF Achchuthan Shanmugasundram reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 FOXC2 Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 FOXC1 Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 DLG3 Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 DACT1 Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 COX10 Achchuthan Shanmugasundram reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 CHD1L Achchuthan Shanmugasundram reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 BMP4 Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 BICC1 Achchuthan Shanmugasundram reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 ACTA2 Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 WDR72 Achchuthan Shanmugasundram commented on gene: WDR72: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Unexplained young onset end-stage renal disease - additional genes v0.65 TRAP1 Achchuthan Shanmugasundram reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes v0.65 TBX18 Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes v0.65 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease - additional genes v0.65 SALL1 Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted