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White matter disorders and cerebral calcification - narrow panel v3.31 | RARS | Arina Puzriakova Publications for gene: RARS were set to 24777941; 27564080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.30 | RARS | Arina Puzriakova Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9 616140 to Leukodystrophy, hypomyelinating, 9, OMIM:616140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.29 | HMBS | Achchuthan Shanmugasundram Classified gene: HMBS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.29 | HMBS | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported with white matter abnormalities. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.29 | HMBS | Achchuthan Shanmugasundram Gene: hmbs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.28 | HMBS | Achchuthan Shanmugasundram Phenotypes for gene: HMBS were changed from to Leukoencephalopathy, HP:0002352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.27 | HMBS | Achchuthan Shanmugasundram Publications for gene: HMBS were set to 27558376, 27271711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.26 | HMBS | Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: HMBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.26 | HMBS |
Achchuthan Shanmugasundram changed review comment from: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants. Monoallelic variants in HMBS gene has been associated with acute intermittent porphyria (MIM #176000) in OMIM, but biallelic variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants. Monoallelic variants in HMBS gene have been associated with acute intermittent porphyria (MIM #176000) in OMIM, but biallelic variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. |
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White matter disorders and cerebral calcification - narrow panel v3.26 | HMBS |
Achchuthan Shanmugasundram changed review comment from: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants. ; to: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants. Monoallelic variants in HMBS gene has been associated with acute intermittent porphyria (MIM #176000) in OMIM, but biallelic variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. |
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White matter disorders and cerebral calcification - narrow panel v3.26 | HMBS |
Achchuthan Shanmugasundram changed review comment from: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported three patients from two unrelated families with; to: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages. PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants. |
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White matter disorders and cerebral calcification - narrow panel v3.26 | HMBS | Achchuthan Shanmugasundram reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27558376, 34089223; Phenotypes: Leukoencephalopathy, HP:0002352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.26 | CLDN11 | Achchuthan Shanmugasundram Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Leukodystrophy, hypomyelinating, 22, OMIM:619328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.25 | NOTCH3 | Arina Puzriakova Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.24 | NOTCH3 | Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.21 | HPDL | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.21 | C2orf69 | Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.21 | C2orf69 | Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.21 | C2orf69 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.21 | C2orf69 | Achchuthan Shanmugasundram commented on gene: C2orf69 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.21 | SCAF4 | Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.20 | SCAF4 | Arina Puzriakova Tag gene-checked was removed from gene: SCAF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.20 | CLDN5 | Eleanor Williams Tag gene-checked tag was added to gene: CLDN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.20 | CLDN5 | Eleanor Williams commented on gene: CLDN5: This gene currently has no phenotype in OMIM but the paper PMID:36477332 mentions the same gene name so adding the gene-checked tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.20 | PPFIBP1 |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1. Tag Q4_23_promote_green tag was added to gene: PPFIBP1. |
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White matter disorders and cerebral calcification - narrow panel v3.20 | PPFIBP1 | Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.20 | PPFIBP1 |
Arina Puzriakova gene: PPFIBP1 was added gene: PPFIBP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: PPFIBP1. Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 35830857; 30214071 Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Penetrance for gene: PPFIBP1 were set to Complete |
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White matter disorders and cerebral calcification - narrow panel v3.19 | ENTPD1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ENTPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.19 | CLDN5 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: CLDN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.19 | C2orf69 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.19 | ENTPD1 | Eleanor Williams reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.19 | CLDN5 | Eleanor Williams reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.19 | C2orf69 | Eleanor Williams reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.18 | ENTPD1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ENTPD1. Source Expert Review Green was added to ENTPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v3.18 | CLDN5 |
Achchuthan Shanmugasundram Source NHS GMS was added to CLDN5. Source Expert Review Green was added to CLDN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v3.18 | C2orf69 |
Achchuthan Shanmugasundram Source NHS GMS was added to C2orf69. Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v3.17 | ESAM | Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.17 | ESAM | Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.17 | ESAM |
Achchuthan Shanmugasundram gene: ESAM was added gene: ESAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature,Expert Review Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM. 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 Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 |
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White matter disorders and cerebral calcification - narrow panel v3.16 | HPDL | Sarah Leigh Tag gene-checked was removed from gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.16 | HPDL | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.16 | HPDL |
Sarah Leigh edited their review of gene: HPDL: Added comment: Biallelic HPDL variants have been associated with Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (OMIM:619026) and Spastic paraplegia 83, autosomal recessive (OMIM:619027) in OMIM and as a Strong gene for HPDL Neurodegenerative Disease in Gen2Phen. PMIDs 32707086 and 33188300 report white matter changes in 16/28 individuals from 9/18 families where MRI assessments were available.; Changed rating: GREEN |
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White matter disorders and cerebral calcification - narrow panel v3.16 | HPDL | Sarah Leigh Classified gene: HPDL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.16 | HPDL | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be Green at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.16 | HPDL | Sarah Leigh Gene: hpdl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.15 | HPDL | Sarah Leigh Entity copied from Severe microcephaly v4.28 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.15 | HPDL |
Sarah Leigh gene: HPDL was added gene: HPDL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Green gene-checked tags were added to gene: HPDL. Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086; 33188300 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 |
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White matter disorders and cerebral calcification - narrow panel v3.14 | CLDN5 | Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.14 | CLDN5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.14 | CLDN5 | Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.13 | CLDN5 |
Achchuthan Shanmugasundram changed review comment from: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. Sources: Literature; to: PMID:36477332 reported the identification of de novo heterozygous missense variants in CLDN5 in 15 unrelated patients who presented with a number of clinical features including developmental delay including intellectual disability, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognisable pattern of pontine atrophy and brain calcifications. All patients except one (patient 2 who had a single MRI taken at 4 days of age) showed pontine atrophy and brain calcifications from neuroimaging. In addition, functional studies from zebrafish model also provided parallel evidence that CLDN5 variants cause a neurodevelopmental disorder involving disruption of the blood brain barrier and impaired neuronal function. This gene has been associated with relevant phenotypes in Gene2Phenotype (CLDN5-related neurodevelopmental disorder with 'limited' rating in the DD panel), but not in OMIM. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v3.13 | CLDN5 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: CLDN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.13 | CLDN5 | Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from Brain calcifications to Brain calcifications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.12 | CLDN5 | Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from Brain calcifications to Brain calcifications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.12 | CLDN5 | Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from epilepsy, MONDO:0005027 to Brain calcifications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.11 | CLDN5 | Achchuthan Shanmugasundram edited their review of gene: CLDN5: Changed phenotypes to: Brain calcifications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.11 | CLDN5 |
Achchuthan Shanmugasundram gene: CLDN5 was added gene: CLDN5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to 36477332 Phenotypes for gene: CLDN5 were set to epilepsy, MONDO:0005027 Review for gene: CLDN5 was set to GREEN Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v3.10 | ENTPD1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ENTPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.10 | ENTPD1 | Achchuthan Shanmugasundram Classified gene: ENTPD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.10 | ENTPD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN in the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.10 | ENTPD1 | Achchuthan Shanmugasundram Gene: entpd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.9 | ENTPD1 |
Achchuthan Shanmugasundram changed review comment from: PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. Sources: Literature; to: PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals (from 9 families) and epilepsy in 7 individuals. In addition, it was also reviewed here that two unrelated families were previously reported with white matter abnormalities. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v3.9 | ENTPD1 |
Achchuthan Shanmugasundram gene: ENTPD1 was added gene: ENTPD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 35471564 Phenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, OMIM:615683 Review for gene: ENTPD1 was set to GREEN Added comment: PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v3.8 | C2orf69 | Arina Puzriakova Entity copied from Mitochondrial disorders v4.27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.8 | C2orf69 |
Arina Puzriakova gene: C2orf69 was added gene: C2orf69 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: C2orf69. Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 34038740; 33945503 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423 |
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White matter disorders and cerebral calcification - narrow panel v3.7 | NDUFS1 | Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency; Mitochondrial complex I disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.6 | DARS2 | Arina Puzriakova Phenotypes for gene: DARS2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.5 | SUCLA2 | Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.4 | MTFMT | Arina Puzriakova Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; 22499348; 614947; 23499752 to Combined oxidative phosphorylation deficiency 15, OMIM:614947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.3 | SPG7 | Sarah Leigh Publications for gene: SPG7 were set to 22571692, 17646629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.2 | SPG7 | Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM#607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | TMEM63A | Eleanor Williams Tag gene-checked tag was added to gene: TMEM63A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | BLOC1S1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ZFYVE26 | Sarah Leigh Tag Q2_21_rating was removed from gene: ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | WARS2 | Sarah Leigh Tag Q2_21_rating was removed from gene: WARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | VPS11 | Sarah Leigh Tag Q2_21_rating was removed from gene: VPS11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | UFM1 | Sarah Leigh Tag Q2_21_rating was removed from gene: UFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | TUFM | Sarah Leigh Tag Q2_21_rating was removed from gene: TUFM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | TMEM63A | Sarah Leigh Tag Q2_21_rating was removed from gene: TMEM63A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SPG11 | Sarah Leigh Tag Q2_21_rating was removed from gene: SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SPART | Sarah Leigh Tag Q2_21_rating was removed from gene: SPART. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SNORD118 |
Sarah Leigh Tag Q2_21_rating was removed from gene: SNORD118. Tag Q2_22_rating was removed from gene: SNORD118. Tag Q2_22_NHS_review was removed from gene: SNORD118. |
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White matter disorders and cerebral calcification - narrow panel v2.9 | SDHA | Sarah Leigh Tag Q2_21_rating was removed from gene: SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | RPIA | Sarah Leigh Tag Q2_21_rating was removed from gene: RPIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | RNF220 | Sarah Leigh Tag Q4_21_rating was removed from gene: RNF220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | RAB11B | Sarah Leigh Tag Q2_21_rating was removed from gene: RAB11B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PTEN | Sarah Leigh Tag Q3_21_rating was removed from gene: PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | POLH | Sarah Leigh Tag Q2_21_rating was removed from gene: POLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | POLH | Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PNPT1 | Sarah Leigh Tag Q1_22_rating was removed from gene: PNPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PI4KA | Sarah Leigh Tag Q3_21_rating was removed from gene: PI4KA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PEX6 | Sarah Leigh Tag Q1_22_MOI was removed from gene: PEX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | NFU1 | Sarah Leigh Tag Q2_21_rating was removed from gene: NFU1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | NAXE | Sarah Leigh Tag Q2_21_rating was removed from gene: NAXE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | NAXD | Sarah Leigh Tag Q2_21_rating was removed from gene: NAXD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | LIG3 | Sarah Leigh Tag Q2_21_rating was removed from gene: LIG3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | KIF5A | Sarah Leigh Tag Q2_21_rating was removed from gene: KIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | KIAA1161 | Sarah Leigh Tag Q2_21_rating was removed from gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ISCA2 | Sarah Leigh Tag Q2_21_rating was removed from gene: ISCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ISCA1 | Sarah Leigh Tag Q2_21_rating was removed from gene: ISCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | HSPD1 | Sarah Leigh Tag Q2_21_rating was removed from gene: HSPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | HIKESHI | Sarah Leigh Tag Q2_21_rating was removed from gene: HIKESHI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | GLRX5 | Sarah Leigh Tag Q2_21_rating was removed from gene: GLRX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | GLB1 | Sarah Leigh Tag Q2_21_rating was removed from gene: GLB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | FARSA | Sarah Leigh Tag Q4_21_rating was removed from gene: FARSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | FA2H | Sarah Leigh Tag Q2_21_rating was removed from gene: FA2H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC5 | Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC4 | Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC3 | Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC2 | Sarah Leigh Tag Q2_21_rating was removed from gene: ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC1 | Sarah Leigh Tag Q3_21_rating was removed from gene: ERCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | EPRS | Sarah Leigh Tag Q2_21_rating was removed from gene: EPRS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ELOVL1 | Sarah Leigh Tag Q4_21_rating was removed from gene: ELOVL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | DEGS1 | Sarah Leigh Tag Q2_21_rating was removed from gene: DEGS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | DCAF17 | Sarah Leigh Tag Q2_21_rating was removed from gene: DCAF17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CSF1R | Sarah Leigh Tag Q4_21_MOI was removed from gene: CSF1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | COLGALT1 | Sarah Leigh Tag Q4_21_rating was removed from gene: COLGALT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | COA7 | Sarah Leigh Tag Q2_21_rating was removed from gene: COA7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CNTNAP1 | Sarah Leigh Tag Q2_21_rating was removed from gene: CNTNAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CLPP | Sarah Leigh Tag Q3_21_rating was removed from gene: CLPP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CLDN11 | Sarah Leigh Tag Q2_21_rating was removed from gene: CLDN11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | BOLA3 | Sarah Leigh Tag Q2_21_rating was removed from gene: BOLA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | AUH | Sarah Leigh Tag Q2_21_rating was removed from gene: AUH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | APOPT1 | Sarah Leigh Tag Q2_21_rating was removed from gene: APOPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | AIFM1 | Sarah Leigh Tag Q2_21_rating was removed from gene: AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ACOX1 | Sarah Leigh Tag Q3_21_MOI was removed from gene: ACOX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ACER3 | Sarah Leigh Tag Q1_22_rating was removed from gene: ACER3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ACBD5 | Sarah Leigh Tag Q2_21_rating was removed from gene: ACBD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ABHD16A | Sarah Leigh Tag Q4_21_rating was removed from gene: ABHD16A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | AARS | Sarah Leigh Tag Q2_21_rating was removed from gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | MPLKIP |
Sarah Leigh Tag Q2_21_rating was removed from gene: MPLKIP. Tag Q2_21_expert_review was removed from gene: MPLKIP. |
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White matter disorders and cerebral calcification - narrow panel v2.9 | GTF2H5 |
Sarah Leigh Tag Q2_21_rating was removed from gene: GTF2H5. Tag Q2_21_expert_review was removed from gene: GTF2H5. |
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White matter disorders and cerebral calcification - narrow panel v2.9 | CYP7B1 |
Sarah Leigh Tag Q3_22_rating was removed from gene: CYP7B1. Tag Q3_22_expert_review was removed from gene: CYP7B1. |
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White matter disorders and cerebral calcification - narrow panel v2.9 | BLOC1S1 | Sarah Leigh Tag Q3_22_rating was removed from gene: BLOC1S1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ZFYVE26 | Sarah Leigh reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | WARS2 | Sarah Leigh reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | VPS11 | Sarah Leigh reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | UFM1 | Sarah Leigh reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | TUFM | Sarah Leigh reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | TMEM63A | Sarah Leigh reviewed gene: TMEM63A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SPG11 | Sarah Leigh reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SPART | Sarah Leigh reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SNORD118 | Sarah Leigh edited their review of gene: SNORD118: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | SDHA | Sarah Leigh reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | RPIA | Sarah Leigh reviewed gene: RPIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | RNF220 | Sarah Leigh reviewed gene: RNF220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | RAB11B | Sarah Leigh reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PTEN | Sarah Leigh reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | POLH | Sarah Leigh reviewed gene: POLH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PNPT1 | Sarah Leigh reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PI4KA | Sarah Leigh reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PEX6 | Sarah Leigh commented on gene: PEX6: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | NFU1 | Sarah Leigh reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | NAXE | Sarah Leigh reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | NAXD | Sarah Leigh reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | LIG3 | Sarah Leigh reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | KIF5A | Sarah Leigh reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | KIAA1161 | Sarah Leigh reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ISCA2 | Sarah Leigh reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ISCA1 | Sarah Leigh reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | HSPD1 | Sarah Leigh reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | HIKESHI | Sarah Leigh reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | GLRX5 | Sarah Leigh reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | GLB1 | Sarah Leigh reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | FARSA | Sarah Leigh reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | FA2H | Sarah Leigh commented on gene: FA2H: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC5 | Sarah Leigh reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC4 | Sarah Leigh reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC3 | Sarah Leigh reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC2 | Sarah Leigh reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ERCC1 | Sarah Leigh reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | EPRS | Sarah Leigh reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ELOVL1 | Sarah Leigh reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | DEGS1 | Sarah Leigh reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | DCAF17 | Sarah Leigh reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CSF1R | Sarah Leigh reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | COLGALT1 | Sarah Leigh reviewed gene: COLGALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | COA7 | Sarah Leigh commented on gene: COA7: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CNTNAP1 | Sarah Leigh reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CLPP | Sarah Leigh reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CLDN11 | Sarah Leigh commented on gene: CLDN11: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | BOLA3 | Sarah Leigh reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | AUH | Sarah Leigh reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | APOPT1 | Sarah Leigh reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | AIFM1 | Sarah Leigh reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ACOX1 | Sarah Leigh reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ACER3 | Sarah Leigh reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ACBD5 | Sarah Leigh reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | ABHD16A | Sarah Leigh reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | AARS | Sarah Leigh reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | MPLKIP | Sarah Leigh reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | GTF2H5 | Sarah Leigh reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | CYP7B1 | Sarah Leigh reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | BLOC1S1 | Sarah Leigh reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.8 | ZFYVE26 |
Sarah Leigh Source NHS GMS was added to ZFYVE26. Source Expert Review Green was added to ZFYVE26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | WARS2 |
Sarah Leigh Source NHS GMS was added to WARS2. Source Expert Review Green was added to WARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | VPS11 |
Sarah Leigh Source NHS GMS was added to VPS11. Source Expert Review Green was added to VPS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | UFM1 |
Sarah Leigh Source NHS GMS was added to UFM1. Source Expert Review Green was added to UFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | TUFM |
Sarah Leigh Source NHS GMS was added to TUFM. Source Expert Review Green was added to TUFM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | TMEM63A |
Sarah Leigh Source NHS GMS was added to TMEM63A. Source Expert Review Green was added to TMEM63A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | SPG11 |
Sarah Leigh Source NHS GMS was added to SPG11. Source Expert Review Green was added to SPG11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | SPART |
Sarah Leigh Source NHS GMS was added to SPART. Source Expert Review Green was added to SPART. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | SNORD118 |
Sarah Leigh Source NHS GMS was added to SNORD118. Source Expert Review Green was added to SNORD118. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | SDHA |
Sarah Leigh Source NHS GMS was added to SDHA. Source Expert Review Green was added to SDHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | RPIA |
Sarah Leigh Source NHS GMS was added to RPIA. Source Expert Review Green was added to RPIA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | RNF220 |
Sarah Leigh Source NHS GMS was added to RNF220. Source Expert Review Green was added to RNF220. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | RAB11B |
Sarah Leigh Source NHS GMS was added to RAB11B. Source Expert Review Green was added to RAB11B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | PTEN |
Sarah Leigh Source NHS GMS was added to PTEN. Source Expert Review Green was added to PTEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | POLH |
Sarah Leigh Source NHS GMS was added to POLH. Source Expert Review Red was added to POLH. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | PNPT1 |
Sarah Leigh Source NHS GMS was added to PNPT1. Source Expert Review Green was added to PNPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | PI4KA |
Sarah Leigh Source NHS GMS was added to PI4KA. Source Expert Review Green was added to PI4KA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | PEX6 |
Sarah Leigh Source NHS GMS was added to PEX6. Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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White matter disorders and cerebral calcification - narrow panel v2.8 | NFU1 |
Sarah Leigh Source NHS GMS was added to NFU1. Source Expert Review Green was added to NFU1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | NAXE |
Sarah Leigh Source NHS GMS was added to NAXE. Source Expert Review Green was added to NAXE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | NAXD |
Sarah Leigh Source NHS GMS was added to NAXD. Source Expert Review Green was added to NAXD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | MPLKIP |
Sarah Leigh Source NHS GMS was added to MPLKIP. Source Expert Review Red was added to MPLKIP. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | LIG3 |
Sarah Leigh Source NHS GMS was added to LIG3. Source Expert Review Green was added to LIG3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | KIF5A |
Sarah Leigh Source NHS GMS was added to KIF5A. Source Expert Review Green was added to KIF5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | KIAA1161 |
Sarah Leigh Source NHS GMS was added to KIAA1161. Source Expert Review Green was added to KIAA1161. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ISCA2 |
Sarah Leigh Source NHS GMS was added to ISCA2. Source Expert Review Green was added to ISCA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ISCA1 |
Sarah Leigh Source NHS GMS was added to ISCA1. Source Expert Review Green was added to ISCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | HSPD1 |
Sarah Leigh Source NHS GMS was added to HSPD1. Source Expert Review Green was added to HSPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | HIKESHI |
Sarah Leigh Source NHS GMS was added to HIKESHI. Source Expert Review Green was added to HIKESHI. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | GTF2H5 |
Sarah Leigh Source Expert Review Amber was added to GTF2H5. Source NHS GMS was added to GTF2H5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | GLRX5 |
Sarah Leigh Source NHS GMS was added to GLRX5. Source Expert Review Green was added to GLRX5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | GLB1 |
Sarah Leigh Source NHS GMS was added to GLB1. Source Expert Review Green was added to GLB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | FARSA |
Sarah Leigh Source NHS GMS was added to FARSA. Source Expert Review Green was added to FARSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | FA2H |
Sarah Leigh Source NHS GMS was added to FA2H. Source Expert Review Green was added to FA2H. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ERCC5 |
Sarah Leigh Source Expert Review Amber was added to ERCC5. Source NHS GMS was added to ERCC5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ERCC4 |
Sarah Leigh Source Expert Review Amber was added to ERCC4. Source NHS GMS was added to ERCC4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ERCC3 |
Sarah Leigh Source NHS GMS was added to ERCC3. Source Expert Review Red was added to ERCC3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ERCC2 |
Sarah Leigh Source Expert Review Amber was added to ERCC2. Source NHS GMS was added to ERCC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ERCC1 |
Sarah Leigh Source Expert Review Amber was added to ERCC1. Source NHS GMS was added to ERCC1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | EPRS |
Sarah Leigh Source NHS GMS was added to EPRS. Source Expert Review Green was added to EPRS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ELOVL1 |
Sarah Leigh Source NHS GMS was added to ELOVL1. Source Expert Review Green was added to ELOVL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | DEGS1 |
Sarah Leigh Source NHS GMS was added to DEGS1. Source Expert Review Green was added to DEGS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | DCAF17 |
Sarah Leigh Source NHS GMS was added to DCAF17. Source Expert Review Green was added to DCAF17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | CYP7B1 |
Sarah Leigh Source NHS GMS was added to CYP7B1. Source Expert Review Green was added to CYP7B1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | CSF1R |
Sarah Leigh Source NHS GMS was added to CSF1R. Mode of inheritance for gene CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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White matter disorders and cerebral calcification - narrow panel v2.8 | COLGALT1 |
Sarah Leigh Source NHS GMS was added to COLGALT1. Source Expert Review Green was added to COLGALT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | COA7 |
Sarah Leigh Source NHS GMS was added to COA7. Source Expert Review Green was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | CNTNAP1 |
Sarah Leigh Source NHS GMS was added to CNTNAP1. Source Expert Review Green was added to CNTNAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | CLPP |
Sarah Leigh Source NHS GMS was added to CLPP. Source Expert Review Green was added to CLPP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | CLDN11 |
Sarah Leigh Source NHS GMS was added to CLDN11. Source Expert Review Green was added to CLDN11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | BOLA3 |
Sarah Leigh Source NHS GMS was added to BOLA3. Source Expert Review Green was added to BOLA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | BLOC1S1 |
Sarah Leigh Source NHS GMS was added to BLOC1S1. Source Expert Review Green was added to BLOC1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | AUH |
Sarah Leigh Source NHS GMS was added to AUH. Source Expert Review Green was added to AUH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | APOPT1 |
Sarah Leigh Source NHS GMS was added to APOPT1. Source Expert Review Green was added to APOPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | AIFM1 |
Sarah Leigh Source NHS GMS was added to AIFM1. Source Expert Review Green was added to AIFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ACOX1 |
Sarah Leigh Source NHS GMS was added to ACOX1. Mode of inheritance for gene ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ACER3 |
Sarah Leigh Source NHS GMS was added to ACER3. Source Expert Review Green was added to ACER3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ACBD5 |
Sarah Leigh Source NHS GMS was added to ACBD5. Source Expert Review Green was added to ACBD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | ABHD16A |
Sarah Leigh Source NHS GMS was added to ABHD16A. Source Expert Review Green was added to ABHD16A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.8 | AARS |
Sarah Leigh Source NHS GMS was added to AARS. Source Expert Review Green was added to AARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v2.7 | PAFAH1B1 | Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from Lissencephaly 1; Cerebral Malformation Disorders; Lissencephaly/Subcortical Band Heterotopia to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.6 | DCX | Arina Puzriakova Phenotypes for gene: DCX were changed from Lissencephaly, X-Linked, 1; Subcortical laminal heteropia, X-linked, 300067; Cerebral Malformation Disorders; Lissencephaly, X-linked, 300067; Classic Lissencephaly/Subcortical Band Heterotopia to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.5 | COX15 | Arina Puzriakova Phenotypes for gene: COX15 were changed from Mitochondrial complex IV disorders; Mitochondrial Leukoencephalopathy to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119; Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.4 | COX10 | Arina Puzriakova Phenotypes for gene: COX10 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; General Leukodystrophy & Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.3 | PDGFRB | Achchuthan Shanmugasundram edited their review of gene: PDGFRB: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.3 | PDGFRB | Achchuthan Shanmugasundram Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.2 | PDGFRB | Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34494111; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.246 | FAM126A | Eleanor Williams commented on gene: FAM126A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.246 | FAM126A | Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.246 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome; Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 6 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.245 | ACOX1 | Arina Puzriakova Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitchell syndrome, OMIM:618960 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; Mitchell syndrome, OMIM:618960; General Leukodystrophy & Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.244 | CYP7B1 | Eleanor Williams commented on gene: CYP7B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.244 | CYP7B1 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: CYP7B1. Tag Q3_22_rating tag was added to gene: CYP7B1. Tag Q3_22_expert_review tag was added to gene: CYP7B1. |
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White matter disorders and cerebral calcification - narrow panel v1.244 | PEX6 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for PEX6 has been set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230.; to: Comment on mode of inheritance: The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.244 | BLOC1S1 | Arina Puzriakova Classified gene: BLOC1S1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.244 | BLOC1S1 | Arina Puzriakova Added comment: Comment on list classification: After seeking consultation from the Helen Brittain (Genomics England Clinical Team) due to the limited details provided in the paper as well as lack of additional support albeit with a sufficient number of total cases with a consistent phenotype (PMID:33875846), it was decided that a Green rating on this panel is justified given the number of unrelated families presenting a relevant phenotype meets the criteria. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.244 | BLOC1S1 | Arina Puzriakova Gene: bloc1s1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.243 | BLOC1S1 |
Arina Puzriakova Tag watchlist was removed from gene: BLOC1S1. Tag Q3_22_rating tag was added to gene: BLOC1S1. |
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White matter disorders and cerebral calcification - narrow panel v1.243 | BLOC1S1 | Arina Puzriakova Entity copied from Intellectual disability v3.1700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.243 | BLOC1S1 |
Arina Puzriakova gene: BLOC1S1 was added gene: BLOC1S1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature watchlist tags were added to gene: BLOC1S1. Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to 33875846 Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy Penetrance for gene: BLOC1S1 were set to unknown |
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White matter disorders and cerebral calcification - narrow panel v1.242 | SDHB | Arina Puzriakova Phenotypes for gene: SDHB were changed from Succinate dehydrogenase-deficient leukoencephalopathy; complex II deficiency; Mitochondrial Leukoencephalopathy to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.241 | SLC35B2 | Sarah Leigh Entity copied from Intellectual disability v3.1672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.241 | SLC35B2 |
Sarah Leigh gene: SLC35B2 was added gene: SLC35B2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to Abnormality of the skeletal system; Short long bone; Short stature; Abnormality of epiphysis morphology; Scoliosis; Multiple joint dislocation; Global develpmental delay; Intellectual disability; CNS hypomyelination; Abnormality of the corpus callosum; Cerebral atrophy; Abnormality of the amniotic fluid Penetrance for gene: SLC35B2 were set to Complete |
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White matter disorders and cerebral calcification - narrow panel v1.240 | TWNK | Arina Puzriakova commented on gene: TWNK: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.240 | SLC25A4 | Arina Puzriakova commented on gene: SLC25A4: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.239 | MAL | Sarah Leigh Entity copied from Inherited white matter disorders v1.159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.239 | MAL |
Sarah Leigh gene: MAL was added gene: MAL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAL were set to 35217805 Phenotypes for gene: MAL were set to developmental delay; nystagmus; progressive motor deterioration; dysmyelination |
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White matter disorders and cerebral calcification - narrow panel v1.238 | PEX6 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230.; to: Comment on mode of inheritance: The mode of inheritance for PEX6 has been set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.238 | PEX6 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.; to: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.238 | SNORD118 | Sarah Leigh Classified gene: SNORD118 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.238 | SNORD118 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.238 | SNORD118 | Sarah Leigh Gene: snord118 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.237 | SNORD118 | Sarah Leigh Tag Q2_22_rating tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.237 | SNORD118 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.237 | SNORD118 | Sarah Leigh Publications for gene: SNORD118 were set to 28177126; 27571260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.236 | SNORD118 | Sarah Leigh Tag Q2_22_NHS_review tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.236 | SCAF4 | Eleanor Williams Tag gene-checked tag was added to gene: SCAF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.236 | RNU7-1 | Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.236 | KIAA1161 | Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.236 | HEPACAM | Arina Puzriakova Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation to Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.235 | NDUFV2 | Arina Puzriakova Classified gene: NDUFV2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.235 | NDUFV2 | Arina Puzriakova Gene: ndufv2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.234 | NDUFV2 |
Arina Puzriakova gene: NDUFV2 was added gene: NDUFV2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature watchlist tags were added to gene: NDUFV2. Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Progressive cavitating leukoencephalopathy, MONDO:0015349 Review for gene: NDUFV2 was set to AMBER Added comment: Liu et al., 2022 (PMID: 33811136) report on two sibling pairs of two unrelated Chinese families presenting with progressive cavitating leukoencephalopathy associated with distinct biallelic variants in this gene. Functional analyses demonstrated impaired structural stability and function of the NDUFV2 protein and complex I deficiency was confirmed in affected individuals' fibroblasts and a muscle biopsy. This is the first report linking NDUFV2 with a leukoencephalopathy phenotype and therefore rating as Amber for now until further cases emerge. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.233 | PEX6 | Sarah Leigh Penetrance for gene PEX6 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.232 | PEX6 | Sarah Leigh Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862 to Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.231 | PEX6 | Sarah Leigh Publications for gene: PEX6 were set to 25655951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.230 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.230 | PEX6 | Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.229 | PEX6 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.229 | PEX6 | Sarah Leigh reviewed gene: PEX6: Rating: ; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.229 | PNPT1 | Arina Puzriakova Classified gene: PNPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.229 | PNPT1 | Arina Puzriakova Gene: pnpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.228 | PNPT1 |
Arina Puzriakova gene: PNPT1 was added gene: PNPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Q1_22_rating tags were added to gene: PNPT1. Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 28594066; 30046113; 33199448 Phenotypes for gene: PNPT1 were set to Combined oxidative phosphorylation deficiency 13, OMIM:614932 Review for gene: PNPT1 was set to GREEN Added comment: White matter abnormalities can be observed in some patients with PNPT1-related mitochondrial disease caused by biallelic variants. Overall at 6 least unrelated cases reported in literature with diminished white matter and/or delayed myelination which is sufficient to justify a Green rating on this panel. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.227 | ACER3 | Arina Puzriakova Classified gene: ACER3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.227 | ACER3 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene Green on this panel at the next GMS review - now at least 5 unrelated families reported with homozygous variants (PMIDs: 26792856; 32816236; 34281620). Phenotypes that are consistent amongst all affected individuals comprise of developmental regression (motor and cognitive), dystonia, spasticity, and leukodystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.227 | ACER3 | Arina Puzriakova Gene: acer3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.226 | ACER3 | Arina Puzriakova Publications for gene: ACER3 were set to 32816236; 26792856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.225 | ACER3 |
Arina Puzriakova Tag watchlist was removed from gene: ACER3. Tag Q1_22_rating tag was added to gene: ACER3. |
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White matter disorders and cerebral calcification - narrow panel v1.225 | ACER3 | Arina Puzriakova reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34281620; Phenotypes: Leukodystrophy, progressive, early childhood-onset, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.225 | ACER3 | Arina Puzriakova Phenotypes for gene: ACER3 were changed from ?Leukodystrophy, progressive, early childhood-onset, OMIM:617762 to Leukodystrophy, progressive, early childhood-onset, OMIM:617762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.224 | FIG4 | Ivone Leong Tag Q2_21_rating was removed from gene: FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.224 | FIG4 | Sarah Leigh commented on gene: FIG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.224 | FIG4 |
Ivone Leong Source Expert Review Green was added to FIG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.223 | RNU7-1 | Ivone Leong Tag for-review was removed from gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | NUP188 | Ivone Leong Tag watchlist was removed from gene: NUP188. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | NUP188 |
Ivone Leong Tag for-review was removed from gene: NUP188. Tag watchlist tag was added to gene: NUP188. |
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White matter disorders and cerebral calcification - narrow panel v1.223 | SCAF4 | Ivone Leong Tag for-review was removed from gene: SCAF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | AP4B1 | Ivone Leong Tag for-review was removed from gene: AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | TMEM106B | Ivone Leong Tag for-review was removed from gene: TMEM106B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | STN1 | Ivone Leong Tag for-review was removed from gene: STN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | STN1 | Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | TMEM106B | Sarah Leigh commented on gene: TMEM106B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | AP4B1 | Sarah Leigh commented on gene: AP4B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | SCAF4 | Sarah Leigh commented on gene: SCAF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | NUP188 | Sarah Leigh commented on gene: NUP188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | RNU7-1 | Sarah Leigh commented on gene: RNU7-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.223 | STN1 |
Ivone Leong Source Expert Review Green was added to STN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.223 | TMEM106B |
Ivone Leong Source Expert Review Green was added to TMEM106B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.223 | AP4B1 |
Ivone Leong Source Expert Review Green was added to AP4B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.223 | SCAF4 |
Ivone Leong Source Expert Review Green was added to SCAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.223 | NUP188 |
Ivone Leong Source Expert Review Green was added to NUP188. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.223 | RNU7-1 |
Ivone Leong Source Expert Review Green was added to RNU7-1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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White matter disorders and cerebral calcification - narrow panel v1.222 | TWNK | Arina Puzriakova commented on gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.222 | SLC25A4 | Arina Puzriakova commented on gene: SLC25A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.221 | TWNK | Arina Puzriakova Mode of inheritance for gene TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.221 | SLC25A4 | Arina Puzriakova Mode of inheritance for gene SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.220 | SNORD118 | Jenny Simmonds reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33029936, 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.220 | PTEN | Ivone Leong Tag Q3_21_rating tag was added to gene: PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.220 | ERCC1 | Ivone Leong Tag Q3_21_rating tag was added to gene: ERCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.220 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2 to Aicardi-Goutieres syndrome 2, OMIM:610181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.219 | IFIH1 | Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 7, 615846; Aicardi-Goutieres syndrome 7; Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis to Aicardi-Goutieres syndrome 7, OMIM:615846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.218 | IBA57 | Arina Puzriakova Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.217 | ELOVL1 | Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v2.107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.217 | ELOVL1 |
Arina Puzriakova gene: ELOVL1 was added gene: ELOVL1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list,Expert Review Amber missense, Q4_21_rating tags were added to gene: ELOVL1. Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 23689133; 29496980; 30487246; 32123819 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 |
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White matter disorders and cerebral calcification - narrow panel v1.216 | COLGALT1 | Ivone Leong Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3 MIM#618360 to Brain small vessel disease 3, OMIM:618360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.215 | COLGALT1 | Ivone Leong Classified gene: COLGALT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.215 | COLGALT1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.215 | COLGALT1 | Ivone Leong Gene: colgalt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.214 | COLGALT1 | Ivone Leong Tag Q4_21_rating tag was added to gene: COLGALT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.214 | FARSA | Ivone Leong Tag Q4_21_rating tag was added to gene: FARSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.214 | FARSA | Ivone Leong Classified gene: FARSA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.214 | FARSA | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is now enough evidence to support a gene-disease association (>3 cases). This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.214 | FARSA | Ivone Leong Gene: farsa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.213 | FARSA | Ivone Leong Publications for gene: FARSA were set to 31355908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.212 | LMNB1 | Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Leukodystrophy,adult-onset, autosomal dominant,169500; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Adult onset autosomal dominant leukodystrophy (ADLD) to Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.211 | CSF1R | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CSF1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.211 | CSF1R | Arina Puzriakova Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.210 | CSF1R |
Arina Puzriakova Added comment: Comment on mode of inheritance: CSF1R is associated with two relevant disorders both including white matter abnormalities and calcifications. One is an adult-onset rapidly progressive neurodegenerative disorder, associated with monoallelic inheritance (Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820). Conversely, biallelic variants cause a condition with a variable onset but mostly childhood (Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476). Both phenotypes are relevant to this panel and therefore the MOI may be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS review. |
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White matter disorders and cerebral calcification - narrow panel v1.210 | CSF1R | Arina Puzriakova Mode of inheritance for gene: CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.209 | CSF1R | Arina Puzriakova Phenotypes for gene: CSF1R were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.208 | AP1S2 | Arina Puzriakova Publications for gene: AP1S2 were set to 17617514; 1842820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.207 | AP1S2 | Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340; Calcifications in basal ganglia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.206 | CLCN2 | Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema to Leukoencephalopathy with ataxia, OMIM:615651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.205 | ABHD16A | Ivone Leong Entity copied from Intellectual disability v3.1359 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.205 | ABHD16A |
Ivone Leong gene: ABHD16A was added gene: ABHD16A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Q4_21_rating tags were added to gene: ABHD16A. Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia; Intellectual disability |
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White matter disorders and cerebral calcification - narrow panel v1.204 | ATP11A | Ivone Leong Entity copied from Intellectual disability v3.1353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.204 | ATP11A |
Ivone Leong gene: ATP11A was added gene: ATP11A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber watchlist tags were added to gene: ATP11A. Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 34403372 Phenotypes for gene: ATP11A were set to Neurodevelopmental disorder |
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White matter disorders and cerebral calcification - narrow panel v1.203 | RNF220 | Ivone Leong Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, MONDO:0019046; Abnormal corpus callosum morphology, HP:0001273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.202 | RNF220 | Ivone Leong Tag Q4_21_rating tag was added to gene: RNF220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.202 | RNF220 |
Ivone Leong changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis. This gene is currently not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 cases for this gene; however, 3 of the cases described in PMID:33964137 are of Roma descent and haplotype analysis has shown that the variant found in these families are due to a founder effect (c.1094G>A, p.Arg365Gly). A separate Roma family also has the same variant (c.1094G>A, p.Arg365Gly). An Italian family with similar phenotypes has a different variant (c.1088G>A, p.Arg363Gly). The authors also report on in vitro and in vivo studies. There is enough evidence to support a gene-disease association; however, the ID severity in these patients do not meet the criteria (moderate to severe) for this panel (patients show mild (mostly) to moderate severity). Therefore, this gene has been given an Amber rating.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis. This gene is currently not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 cases for this gene; however, 3 of the cases described in PMID:33964137 are of Roma descent and haplotype analysis has shown that the variant found in these families are due to a founder effect (c.1094G>A, p.Arg365Gly). A separate Roma family also has the same variant (c.1094G>A, p.Arg365Gly). An Italian family with similar phenotypes has a different variant (c.1088G>A, p.Arg363Gly). The authors also report on in vitro and in vivo studies. There is enough evidence to support a gene-disease association. Therefore, this gene should be Green at the next review. |
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White matter disorders and cerebral calcification - narrow panel v1.202 | RNF220 | Ivone Leong Entity copied from Intellectual disability v3.1328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.202 | RNF220 |
Ivone Leong gene: RNF220 was added gene: RNF220 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Other,Expert Review Amber,Literature Mode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF220 were set to 33964137; 10881263 Phenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum Penetrance for gene: RNF220 were set to Complete |
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White matter disorders and cerebral calcification - narrow panel v1.201 | RNF113A | Arina Puzriakova Phenotypes for gene: RNF113A were changed from ?Trichothiodystrophy 5, nonphotosensitive to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.200 | GTF2E2 | Arina Puzriakova Classified gene: GTF2E2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.200 | GTF2E2 | Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single individual has been described to date with white matter alternations in the context of variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.200 | GTF2E2 | Arina Puzriakova Gene: gtf2e2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.199 | GTF2E2 | Arina Puzriakova reviewed gene: GTF2E2: Rating: ; Mode of pathogenicity: None; Publications: 26996949, 28973399; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.199 | GTF2E2 | Arina Puzriakova Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; 616943 to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.198 | COLGALT1 |
Zornitza Stark gene: COLGALT1 was added gene: COLGALT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360 Review for gene: COLGALT1 was set to GREEN Added comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.198 | PI4KA | Ivone Leong Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.198 | PI4KA |
Ivone Leong gene: PI4KA was added gene: PI4KA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Q3_21_rating tags were added to gene: PI4KA. Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 25855803; 34415322; 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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White matter disorders and cerebral calcification - narrow panel v1.197 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia, autosomal recessive 257850; Oculodentodigital dysplasia (AD) 164200 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.196 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD) to Polyglucosan body disease, adult form, OMIM:263570; General Leukodystrophy & Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.195 | GALC | Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, OMIM:245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.194 | ALDH3A2 | Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren Larsson syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Sjogren-Larsson syndrome, OMIM:270200; General Leukodystrophy & Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.193 | SLC16A2 | Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8); Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, OMIM:300523; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.192 | NKX6-2 | Arina Puzriakova Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.191 | AIMP1 | Arina Puzriakova Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.190 | COQ2 | Ivone Leong Phenotypes for gene: COQ2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1 to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1, OMIM:607426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.189 | CLPP | Ivone Leong Classified gene: CLPP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.189 | CLPP | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.189 | CLPP | Ivone Leong Gene: clpp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.188 | CLPP | Ivone Leong Tag Q3_21_rating tag was added to gene: CLPP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.188 | FARSA | Zornitza Stark edited their review of gene: FARSA: Added comment: PMID 33598926: three additional families reported. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction.; Changed rating: GREEN; Changed publications to: 31355908, 33598926; Changed phenotypes to: Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.188 | ACOX1 |
Ivone Leong changed review comment from: PMID: 32169171. 3 unrelated patients with the same de novo variant (N237S) with a progressive disease. Age of onset is between 3-12 years old (cf to AR patients 0-3 years old), disease course is progressive (AR patients, early onset and severe) white matter demyelination is progressive, sensorineural hearing loss and ataxia. Authors found that the variant increased levels of ACOX1 protein and function which increased levels of ROS in glia of Drosphila and mouse Schwann cells leading to glial degeneration. The authors suggested that the variant caused a GOF effect. Therefore, MOI should be changed from Biallelic to Both monoallelic and biallelic (but biallelic mutations cuase a more severe disease form).; to: Comment on mode of inheritance: PMID: 32169171. 3 unrelated patients with the same de novo variant (N237S) with a progressive disease. Age of onset is between 3-12 years old (cf to AR patients 0-3 years old), disease course is progressive (AR patients, early onset and severe) white matter demyelination is progressive, sensorineural hearing loss and ataxia. Authors found that the variant increased levels of ACOX1 protein and function which increased levels of ROS in glia of Drosphila and mouse Schwann cells leading to glial degeneration. The authors suggested that the variant caused a GOF effect. AD causes Mitchell syndrome (OMIM:618960) and AR causes Peroxisomal acyl-CoA oxidase deficiency (OMIM:264470). Therefore, MOI should be changed from Biallelic to Both monoallelic and biallelic (but biallelic mutations cuase a more severe disease form). |
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White matter disorders and cerebral calcification - narrow panel v1.188 | ACOX1 | Ivone Leong Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitchell syndrome, OMIM:618960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.187 | ACOX1 | Ivone Leong Tag Q3_21_MOI tag was added to gene: ACOX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.187 | ACOX1 | Ivone Leong reviewed gene: ACOX1: Rating: ; Mode of pathogenicity: None; Publications: 32169171; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.187 | ACOX1 | Ivone Leong Publications for gene: ACOX1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648; 17458872; 25655951; 11815777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.186 | KIAA1161 | Ivone Leong Classified gene: KIAA1161 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.186 | KIAA1161 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.186 | KIAA1161 | Ivone Leong Gene: kiaa1161 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.185 | KIAA1161 | Ivone Leong Tag Q2_21_rating tag was added to gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.185 | KIAA1161 | Ivone Leong Added comment: Comment on mode of inheritance: MOI has been changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Biallelic, autosomal or pseudoautosomal" after consulting the Genomics England Clinical Team. As not all carriers exhibit the phenotype and the age of for the carriers that do exhibit the phenotype is not appropriate for this panel. Therefore the Biallelic MOI was assigned. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.185 | KIAA1161 | Ivone Leong Mode of inheritance for gene: KIAA1161 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.184 | KIAA1161 |
Ivone Leong Added comment: Comment on publications: PMID: 31951047 - "89.5% (34 of 38) of individuals with heterozygous mutations remained asymptomatic at the time of examination and 4 of them exhibited symptoms with uncertain clinical significance (nonspecific depression, epilepsy, and late‐onset parkinsonism)". Age at CT scans range from 28-84. "brain calcifications of varying severity, from mild calcifications limited to the basal ganglia that were hard to differentiate from physiological calcifications to diffuse and moderate calcium deposits". PMID: 30656188 - 2 families, carriers were all asymptomatic. Family 1 had no calcifications/no information. Family 2, 3/4 carriers had symmetrical punctuate calcification limited to the globus pallidus. The carriers were scanned <40yo. PMID: 30895394 - proband's father (carrier) had diffuse bilateral cerebral calcifications with no symptoms other than very mild postural tremor. Scan age 68. PMID: 31009047 - 3 families. Fathers of all probands were carriers. 2 had lenticulo-cerebellar calcifications - one of these 2 carriers had depression and cognitive impairment (age unknown), the other carrier was asymptomatic and was 65 yo when scan was done. 3rd father had calcifications restricted to the lenticular nuclei and was asymptomatic (age unknown). |
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White matter disorders and cerebral calcification - narrow panel v1.184 | KIAA1161 | Ivone Leong Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047; 33958240; 31440850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.183 | EPRS | Ivone Leong Publications for gene: EPRS were set to 29576217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.182 | AUH | Ivone Leong Entity copied from White matter disorders - adult onset v1.21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.182 | AUH |
Ivone Leong gene: AUH was added gene: AUH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list,Expert Review Amber Q2_21_rating tags were added to gene: AUH. Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 20855850; 17130438 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, OMIM:250950 |
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White matter disorders and cerebral calcification - narrow panel v1.181 | POLR3B | Arina Puzriakova Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Pol III-Related Leukodystrophy; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.180 | PTEN | Ivone Leong Classified gene: PTEN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.180 | PTEN | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.180 | PTEN | Ivone Leong Gene: pten has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.179 | PTEN | Ivone Leong Publications for gene: PTEN were set to 29720545; 29152901; 30664625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.178 | SDHA | Ivone Leong Classified gene: SDHA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.178 | SDHA | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.178 | SDHA | Ivone Leong Gene: sdha has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.177 | SDHA | Ivone Leong Tag Q2_21_rating tag was added to gene: SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.177 | SDHA |
Ivone Leong Added comment: Comment on publications: PMID: 24781757. 4 unrelated patients. 1/4 had leukodystrophy, 1/4 had cerebral atrophy and 1/4 had both leukodystrophy and cerebral atrophy. PMID: 22972948. 2 unrelated patients both had leukodystrophy. |
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White matter disorders and cerebral calcification - narrow panel v1.177 | SDHA | Ivone Leong Publications for gene: SDHA were set to 22972948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.176 | SDHA | Ivone Leong Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, OMIM:252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.176 | SDHA | Ivone Leong Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, MIM#252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.175 | SNORD118 | Ivone Leong Classified gene: SNORD118 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.175 | SNORD118 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene is also Green on the Inherited white matter disorders (Version 1.121) and White matter disorders - adult onset (Version 1.15) panels. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.175 | SNORD118 | Ivone Leong Gene: snord118 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.174 | SNORD118 | Ivone Leong Tag Q2_21_rating tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.174 | SNORD118 | Ivone Leong Phenotypes for gene: SNORD118 were changed from 614561 to Leukoencephalopathy, brain calcifications, and cysts, OMIM:614561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.173 | SPART | Ivone Leong Classified gene: SPART as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.173 | SPART | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant disorder in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.173 | SPART | Ivone Leong Gene: spart has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.172 | SPART | Ivone Leong Tag Q2_21_rating tag was added to gene: SPART. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.172 | SPART | Ivone Leong Phenotypes for gene: SPART were changed from Troyer syndrome, MIM#275900 to Troyer syndrome, OMIM:275900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.171 | SPART | Ivone Leong Publications for gene: SPART were set to 27112432; 18413476; 26003402; 12134148; 28875386; 15372254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.170 | SPART | Ivone Leong Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.169 | SPG11 | Ivone Leong Tag Q2_21_rating tag was added to gene: SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.169 | SPG11 | Ivone Leong Classified gene: SPG11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.169 | SPG11 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green in the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.169 | SPG11 | Ivone Leong Gene: spg11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.168 | SPG11 | Ivone Leong Added comment: Comment on publications: PMID: 33581793. A total of 339 patients were analysed, their mean age at onset was 13.10 +/- 3.65 years. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.168 | SPG11 | Ivone Leong Publications for gene: SPG11 were set to 14745065; 18067136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.167 | SPG11 | Ivone Leong Phenotypes for gene: SPG11 were changed from Spastic paralplegia 11, autosomal recessive, MIM#604360 to Spastic paralplegia 11, autosomal recessive, OMIM:604360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.166 | SPG11 | Ivone Leong Publications for gene: SPG11 were set to 14745065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong commented on gene: NAXD: Affected individuals show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures triggered by acute fever. The affected infants usually die in the first few years of life. Brain imaging shows multiple abnormalities, including brain edema and white matter abnormalities. The infants also present with skin lesions/rash. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Tag Q2_21_rating tag was added to gene: NAXD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Classified gene: NAXD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Gene: naxd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.164 | NAXD | Ivone Leong Added comment: Comment on publications: PMID: 31755961 and 33224489 are 2 additional cases. PMID: 31755961 did not mention anything about the patient's brain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.164 | NAXD | Ivone Leong Publications for gene: NAXD were set to 30576410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.163 | NAXD | Ivone Leong Phenotypes for gene: NAXD were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.162 | MPLKIP | Ivone Leong Phenotypes for gene: MPLKIP were changed from Non-photosensitive trichothiodystrophy 4; Trichothiodystrophy, nonphotosensitive to Trichothiodystrophy 4, nonphotosensitive, OMIM:234050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong commented on gene: MPLKIP: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is no reported cases of this gene associated with white matter changes, therefore, it is recommended that this gene be demoted to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP |
Ivone Leong Tag Q2_21_rating tag was added to gene: MPLKIP. Tag Q2_21_expert_review tag was added to gene: MPLKIP. |
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White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong Publications for gene: MPLKIP were set to 25655951; 25290684; 26518168; 25606444; 26880286; 2942160; 30580289; 30598092; 16977596; 33043633; 33729667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.160 | MPLKIP | Ivone Leong Publications for gene: MPLKIP were set to 25655951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.159 | CYP7B1 | Arina Puzriakova changed review comment from: Comment on list classification: CYP7B1 will be flagged for GMS review to assess whether there is enough evidence and potential clinical value to rate as Green on this panel.; to: Comment on list classification: CYP7B1 will be flagged for GMS review to assess whether the phenotype is appropriate and there is enough potential clinical value to rate as Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.159 | CYP7B1 | Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: CYP7B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.159 | CYP7B1 | Arina Puzriakova Publications for gene: CYP7B1 were set to MIM#270800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.158 | CYP7B1 | Arina Puzriakova Classified gene: CYP7B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.158 | CYP7B1 | Arina Puzriakova Added comment: Comment on list classification: CYP7B1 will be flagged for GMS review to assess whether there is enough evidence and potential clinical value to rate as Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.158 | CYP7B1 | Arina Puzriakova Gene: cyp7b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.157 | CYP7B1 | Arina Puzriakova reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19187859, 19439420, 24117163; Phenotypes: Spastic paraplegia 5A, autosomal recessive , OMIM:270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Tag Q2_21_rating tag was added to gene: KIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Classified gene: KIF5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.157 | KIF5A | Ivone Leong Gene: kif5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.156 | CYP7B1 | Arina Puzriakova Phenotypes for gene: CYP7B1 were changed from to Spastic paraplegia 5A, autosomal recessive , OMIM:270800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.155 | KIF5A | Ivone Leong Phenotypes for gene: KIF5A were changed from Myoclonus, intractable, neonatal, MIM# 617235 to Myoclonus, intractable, neonatal, OMIM:617235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.154 | ISCA2 | Ivone Leong Classified gene: ISCA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.154 | ISCA2 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene is also Green on the Inherited white matter disorders (Version 1.113) panel. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.154 | ISCA2 | Ivone Leong Gene: isca2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.153 | ISCA2 |
Ivone Leong Tag founder-effect tag was added to gene: ISCA2. Tag Q2_21_rating tag was added to gene: ISCA2. |
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White matter disorders and cerebral calcification - narrow panel v1.153 | CNTNAP1 | Arina Puzriakova changed review comment from: Comment on list classification: There are sufficient cases of white matter defects from unrelated families to warrant a Green rating at the next GMS panel update.; to: Comment on list classification: There are sufficient cases of white matter disease from unrelated families to warrant a Green rating at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.153 | CNTNAP1 | Arina Puzriakova Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.152 | CNTNAP1 | Arina Puzriakova Publications for gene: CNTNAP1 were set to 29882456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.151 | CNTNAP1 | Arina Puzriakova Classified gene: CNTNAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.151 | CNTNAP1 | Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases of white matter defects from unrelated families to warrant a Green rating at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.151 | CNTNAP1 | Arina Puzriakova Gene: cntnap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.150 | CNTNAP1 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: CNTNAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.150 | CNTNAP1 | Arina Puzriakova reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 29882456; Phenotypes: Hypomyelinating neuropathy, congenital, 3, OMIM:618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.150 | ISCA2 | Ivone Leong Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.149 | CLPP |
Ivone Leong changed review comment from: Comment on publications: PMID: 23541340, describes 3 consanguineous Pakistani families (PDF1, PKDF291 and DEM4395), all affected individuals had sensorineural hearing loss. Family PDF1: 3 affected sisters, 1/3 had delayed puberty, streak ovaries and hormone levels consistant with hypogonadotropic hypogonadism, 2/3 had incipient POF and 1/3 had white matter phenotype. All three had epilepsy, short stature, microcephaly (< 3 percentile), moderate learning difficulties and ataxia. Family PKDF291: 4 affected females with primary amenorrhea and hypogonadotropic hypogonadism. 3/4 had rudimentary uterus and small ovaries, 1/4 had small uterus and normal sized ovaries. No learning disabilities, microcephaly, short stature, epilepsy or neurological deficiet in all affected females. Family DEM4395: 1 affected male and 2 affected females. All females had normal periods but their hormone profiles were not investigated. Aside from hearing loss there were no other self reported medical problems. PMID: 25956234. Consanguineous Saudi family with 1 affected male and 1 affected female. Both patients have hearing loss, growth retardation and mental retardation, spastic diplegia and mild-severe white matter loss. No seizures were described in the patients. There is a third sibling (8 months) with the same variant; however, he did not show any of the phenotypes seen in his siblings but he is under regular checkups from a clinical team. PMID:26970254. Consanguineous family of Arabic descent. Proband with 4 unaffected siblings and parents. Proband has hearing loss, azoospermia, no neurological symptoms other than the foot drop (neurophysiology revealed a sensory-motor demyelinative axonal peripheral neuropathy of the lower limbs). Father has cerebellar ataxia (cause unknown). PMID: 27087618. Non-consanguineous Turkish family; however, parents are from the same village. 2 affected siblings (1 male, 1 female). Sister has secondary amenorrhea, hearing loss, no ovaries detected, hypogonadotropic hypogonadism, no neurological problems. Brother has hearing loss but no other problems. PMID: 27650058. Consanguineous Algerian family with 2 affected females. Both have hearing loss and secondary amenorrhea, but no other neurological symptoms. PMID: 27899912. 3 affected families (1 - 3), with 5 affected individuals (all males). All had congenital deafness, psychomotor retardation, white matter phenotype and short stature. Patients were not tested for infertility.; to: Comment on publications: PMID: 23541340, describes 3 consanguineous Pakistani families (PDF1, PKDF291 and DEM4395), all affected individuals had sensorineural hearing loss. Family PDF1: 3 affected sisters, 1/3 had delayed puberty, streak ovaries and hormone levels consistant with hypogonadotropic hypogonadism, 2/3 had incipient POF and 1/3 had white matter phenotype. All three had epilepsy, short stature, microcephaly (< 3 percentile), moderate learning difficulties and ataxia. Family PKDF291: 4 affected females with primary amenorrhea and hypogonadotropic hypogonadism. 3/4 had rudimentary uterus and small ovaries, 1/4 had small uterus and normal sized ovaries. No learning disabilities, microcephaly, short stature, epilepsy or neurological deficiet in all affected females. Family DEM4395: 1 affected male and 2 affected females. All females had normal periods but their hormone profiles were not investigated. Aside from hearing loss there were no other self reported medical problems. PMID: 25956234. Consanguineous Saudi family with 1 affected male and 1 affected female. Both patients have hearing loss, growth retardation and mental retardation, spastic diplegia and mild-severe white matter loss. No seizures were described in the patients. There is a third sibling (8 months) with the same variant; however, he did not show any of the phenotypes seen in his siblings but he is under regular checkups from a clinical team. PMID:26970254. Consanguineous family of Arabic descent. Proband with 4 unaffected siblings and parents. Proband has hearing loss, azoospermia, no neurological symptoms other than the foot drop (neurophysiology revealed a sensory-motor demyelinative axonal peripheral neuropathy of the lower limbs). Father has cerebellar ataxia (cause unknown). PMID: 27087618. Non-consanguineous Turkish family; however, parents are from the same village. 2 affected siblings (1 male, 1 female). Sister has secondary amenorrhea, hearing loss, no ovaries detected, hypogonadotropic hypogonadism, no neurological problems. Brother has hearing loss but no other problems. PMID: 27650058. Consanguineous Algerian family with 2 affected females. Both have hearing loss and secondary amenorrhea, but no other neurological symptoms. PMID: 27899912. 3 affected families, with 5 affected individuals (all males). All had congenital deafness, psychomotor retardation, white matter phenotype and short stature. Patients were not tested for infertility. |
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White matter disorders and cerebral calcification - narrow panel v1.149 | CLPP |
Ivone Leong Added comment: Comment on publications: PMID: 23541340, describes 3 consanguineous Pakistani families (PDF1, PKDF291 and DEM4395), all affected individuals had sensorineural hearing loss. Family PDF1: 3 affected sisters, 1/3 had delayed puberty, streak ovaries and hormone levels consistant with hypogonadotropic hypogonadism, 2/3 had incipient POF and 1/3 had white matter phenotype. All three had epilepsy, short stature, microcephaly (< 3 percentile), moderate learning difficulties and ataxia. Family PKDF291: 4 affected females with primary amenorrhea and hypogonadotropic hypogonadism. 3/4 had rudimentary uterus and small ovaries, 1/4 had small uterus and normal sized ovaries. No learning disabilities, microcephaly, short stature, epilepsy or neurological deficiet in all affected females. Family DEM4395: 1 affected male and 2 affected females. All females had normal periods but their hormone profiles were not investigated. Aside from hearing loss there were no other self reported medical problems. PMID: 25956234. Consanguineous Saudi family with 1 affected male and 1 affected female. Both patients have hearing loss, growth retardation and mental retardation, spastic diplegia and mild-severe white matter loss. No seizures were described in the patients. There is a third sibling (8 months) with the same variant; however, he did not show any of the phenotypes seen in his siblings but he is under regular checkups from a clinical team. PMID:26970254. Consanguineous family of Arabic descent. Proband with 4 unaffected siblings and parents. Proband has hearing loss, azoospermia, no neurological symptoms other than the foot drop (neurophysiology revealed a sensory-motor demyelinative axonal peripheral neuropathy of the lower limbs). Father has cerebellar ataxia (cause unknown). PMID: 27087618. Non-consanguineous Turkish family; however, parents are from the same village. 2 affected siblings (1 male, 1 female). Sister has secondary amenorrhea, hearing loss, no ovaries detected, hypogonadotropic hypogonadism, no neurological problems. Brother has hearing loss but no other problems. PMID: 27650058. Consanguineous Algerian family with 2 affected females. Both have hearing loss and secondary amenorrhea, but no other neurological symptoms. PMID: 27899912. 3 affected families (1 - 3), with 5 affected individuals (all males). All had congenital deafness, psychomotor retardation, white matter phenotype and short stature. Patients were not tested for infertility. |
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White matter disorders and cerebral calcification - narrow panel v1.149 | CLPP | Ivone Leong Publications for gene: CLPP were set to 27899912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.148 | APOPT1 | Arina Puzriakova commented on gene: APOPT1: Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.148 | APOPT1 | Arina Puzriakova Tag new-gene-name tag was added to gene: APOPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.148 | APOPT1 | Arina Puzriakova Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.147 | APOPT1 | Arina Puzriakova Classified gene: APOPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.147 | APOPT1 | Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases of white matter disease from unrelated families to warrant a Green rating at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.147 | APOPT1 | Arina Puzriakova Gene: apopt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.146 | APOPT1 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: APOPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.146 | APOPT1 | Arina Puzriakova reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.146 | LAMB1 | Arina Puzriakova Publications for gene: LAMB1 were set to 25925986; 17525174; 23472759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.145 | LAMB1 | Arina Puzriakova reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.145 | LAMB1 | Arina Puzriakova Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, 615191 to Lissencephaly 5, OMIM:615191; Cystic leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.144 | CLPP | Ivone Leong Phenotypes for gene: CLPP were changed from Perrault syndrome 3, MIM# 614129 to Perrault syndrome 3, OMIM:614129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.143 | RPIA | Arina Puzriakova Publications for gene: RPIA were set to 31247379; 14988808; 31056085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.142 | RPIA | Arina Puzriakova Tag Q2_21_rating tag was added to gene: RPIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.142 | RPIA | Arina Puzriakova Classified gene: RPIA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.142 | RPIA | Arina Puzriakova Added comment: Comment on list classification: Cerebral white matter abnormalities identified in all cases to date (at least 4 unrelated families) - sufficient for RPIA to be rated Green on this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.142 | RPIA | Arina Puzriakova Gene: rpia has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.141 | BOLA3 | Ivone Leong Tag Q2_21_rating tag was added to gene: BOLA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.141 | BOLA3 | Ivone Leong Publications for gene: BOLA3 were set to 29654549; 29501406; 24334290; 21944046; 30302924; 29654549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.140 | BOLA3 | Ivone Leong Classified gene: BOLA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.140 | BOLA3 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.140 | BOLA3 | Ivone Leong Gene: bola3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.139 | BOLA3 | Ivone Leong Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.138 | BOLA3 | Ivone Leong Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.137 | AIFM1 | Ivone Leong Tag Q2_21_rating tag was added to gene: AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.137 | AIFM1 | Ivone Leong Classified gene: AIFM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.137 | AIFM1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.137 | AIFM1 | Ivone Leong Gene: aifm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.136 | AIFM1 | Ivone Leong Added comment: Comment on publications: PMID: 33439541 - 2 additional cases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.136 | AIFM1 | Ivone Leong Publications for gene: AIFM1 were set to 28842795; 27102849 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.135 | AIFM1 | Ivone Leong Phenotypes for gene: AIFM1 were changed from Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.134 | CNP | Ivone Leong Tag watchlist tag was added to gene: CNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.134 | CNP | Ivone Leong Classified gene: CNP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.134 | CNP | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.134 | CNP | Ivone Leong Gene: cnp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.133 | CNP | Ivone Leong Phenotypes for gene: CNP were changed from Hypomyelinating leukodystrophy to ?Leukodystrophy, hypomyelinating, 20, OMIM:619071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong edited their review of gene: GTF2H5: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Based on the available evidence there is not enough evidence to support a gene-disease association. This gene should be demoted to Amber/Red at the next review.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: GTF2H5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Tag Q2_21_rating tag was added to gene: GTF2H5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Added comment: Comment on publications: 5 unrelated cases of patients with variants in this gene. There was no mention of any white matter changes in patients described in PMID: 24986372 and 15220921. PMID: 30359777, the affected patient had delayed myelination. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.132 | GTF2H5 | Ivone Leong Publications for gene: GTF2H5 were set to 24986372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.131 | GTF2H5 | Ivone Leong Phenotypes for gene: GTF2H5 were changed from Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive to delayed myelination | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.130 | GTF2H5 | Ivone Leong Publications for gene: GTF2H5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.129 | ISCA1 | Ivone Leong Tag Q2_21_rating tag was added to gene: ISCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.129 | ISCA1 | Ivone Leong Classified gene: ISCA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.129 | ISCA1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.129 | ISCA1 | Ivone Leong Gene: isca1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.128 | ISCA1 | Ivone Leong Phenotypes for gene: ISCA1 were changed from Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 to Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.127 | HSPD1 | Ivone Leong Classified gene: HSPD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.127 | HSPD1 |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. The missense p.Leu47Val variant has a dominant negative effect. |
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White matter disorders and cerebral calcification - narrow panel v1.127 | HSPD1 | Ivone Leong Gene: hspd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.126 | HIKESHI | Ivone Leong Tag Q2_21_rating tag was added to gene: HIKESHI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.126 | HSPD1 | Ivone Leong Tag Q2_21_rating tag was added to gene: HSPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.126 | HSPD1 | Ivone Leong Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.125 | HSPD1 | Ivone Leong Publications for gene: HSPD1 were set to 18571143; 27405012; 32532876; 28377887; 27405012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.124 | HSPD1 | Ivone Leong Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, OMIM:612233; Spastic paraplegia 13, autosomal dominant, OMIM:605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.123 | POLH | Arina Puzriakova changed review comment from: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update. Literature search did not revealed any evidence of involvement in white matter disease or intracranial calcification.; to: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update. Literature search did not reveal any evidence of involvement in white matter disease or intracranial calcification. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.123 | POLH | Arina Puzriakova Tag Q2_21_rating tag was added to gene: POLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.123 | POLH | Arina Puzriakova Classified gene: POLH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.123 | POLH | Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update. Literature search did not revealed any evidence of involvement in white matter disease or intracranial calcification. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.123 | POLH | Arina Puzriakova Gene: polh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.122 | RAB11B | Arina Puzriakova Classified gene: RAB11B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.122 | RAB11B | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.122 | RAB11B | Arina Puzriakova Gene: rab11b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.121 | RAB11B | Arina Puzriakova Tag Q2_21_rating tag was added to gene: RAB11B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.121 | RAB11B | Arina Puzriakova reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.121 | HSPD1 | Ivone Leong Publications for gene: HSPD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.120 | HSPD1 | Ivone Leong Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233; Spastic paraplegia 13, autosomal dominant, OMIM:605280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.119 | HIKESHI | Ivone Leong Classified gene: HIKESHI as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.119 | HIKESHI | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.119 | HIKESHI | Ivone Leong Gene: hikeshi has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.118 | HIKESHI | Ivone Leong Tag watchlist was removed from gene: HIKESHI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.118 | HIKESHI | Ivone Leong Tag watchlist tag was added to gene: HIKESHI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.118 | HIKESHI |
Ivone Leong Added comment: Comment on publications: PMID: 26545878. 3 unrelated cases (6 individuals), Ashkenazi Jewish families. p.Val54Leu. 4/4 (2 MRI was not reported) delayed myelination and periventricular white matter abnormalities on brain imaging, 5/6 feeding difficulties, 5/6 developmental delay, 5/5 progressively decreasing head circumference percentile (up to -2 SD), 6/6 spasticity, 5/6 increased muscle tone, 1/6 ataxia, 2/6 (same family) optic atrophy, 4/6 nystagmus, 1/6 heart failure, 1/6 perimyocarditis. PMID: 28000699. Finnish case. Difference variant than what was described in PMID:26545878 (p.Cys4Ser). Diffuse hypomyelination, cystic changes of periventricular white matter, has increased muscle tone, spasticity, ataxia, mild optic atrophy, myopia nystagmus and epilepsy. No feeding difficulties or microcephaly. |
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White matter disorders and cerebral calcification - narrow panel v1.118 | HIKESHI | Ivone Leong Publications for gene: HIKESHI were set to 26545878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.117 | NFU1 | Arina Puzriakova edited their review of gene: NFU1: Changed publications to: 22077971, 25918518, 28470589, 29441221, 31516295, 32747156, 32669393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.117 | NFU1 | Arina Puzriakova Publications for gene: NFU1 were set to 22077971; 28470589; 29441221; 31516295; 32747156; 32669393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.116 | NFU1 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: NFU1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.116 | NFU1 | Arina Puzriakova Publications for gene: NFU1 were set to 21944046; 22077971; 32747156; 29441221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.115 | NFU1 | Arina Puzriakova Classified gene: NFU1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.115 | NFU1 | Arina Puzriakova Added comment: Comment on list classification: Overall there are sufficient unrelated cases (>3) with white matter abnormalities to rate this gene as Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.115 | NFU1 | Arina Puzriakova Gene: nfu1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.114 | NFU1 | Arina Puzriakova reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22077971, 28470589, 29441221, 31516295, 32747156, 32669393; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711, Leukoencephalopathy, HP:0002352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.114 | HIKESHI | Ivone Leong Phenotypes for gene: HIKESHI were changed from Leukodystrophy, hypomyelinating, 13, MIM# 616881 to Leukodystrophy, hypomyelinating, 13, OMIM:616881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.113 | RPIA | Arina Puzriakova Phenotypes for gene: RPIA were changed from Ribose 5-phosphate isomerase deficiency, MIM# 608611 to Ribose 5-phosphate isomerase deficiency, OMIM:608611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.112 | RAB11B | Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.111 | PTEN | Arina Puzriakova Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350 to Cowden syndrome 1, OMIM:158350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.110 | POLH | Arina Puzriakova Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.109 | NFU1 | Arina Puzriakova Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.108 | NAXE | Arina Puzriakova Publications for gene: NAXE were set to 27616477, 27122014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.107 | NAXE | Arina Puzriakova edited their review of gene: NAXE: Changed publications to: 27616477, 27122014, 27290639, 30022751, 31758406, 31745726; Changed phenotypes to: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, OMIM:617186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.107 | NAXE | Arina Puzriakova Classified gene: NAXE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.107 | NAXE | Arina Puzriakova Gene: naxe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.106 | NAXE | Arina Puzriakova Classified gene: NAXE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.106 | NAXE | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.106 | NAXE | Arina Puzriakova Gene: naxe has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.105 | NAXE | Arina Puzriakova Tag Q2_21_rating tag was added to gene: NAXE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.105 | NAXE | Arina Puzriakova reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, OMIM:617186; Phenotypes: 27616477, 27122014, 27290639, 30022751, 31758406, 31745726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.105 | NAXE | Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Tag Q2_21_rating tag was added to gene: GLRX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Classified gene: GLRX5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Gene: glrx5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.103 | GLRX5 | Ivone Leong Phenotypes for gene: GLRX5 were changed from Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859 to Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.102 | GLB1 | Ivone Leong Classified gene: GLB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.102 | GLB1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene is also Green on the White matter disorders - adult onset (Version 1.11). There is enough evidence to support a gene-disease assocation. GM1-gangliosidosis affect those in their infancy and juvenile stages as well. Therefore this gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.102 | GLB1 | Ivone Leong Gene: glb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.101 | GLB1 | Ivone Leong Tag Q2_21_rating tag was added to gene: GLB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.101 | GLB1 | Ivone Leong Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 to GM1-gangliosidosis, type I, OMIM:230500; GM1-gangliosidosis, type II, OMIM:230600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.100 | LIG3 | Ivone Leong Tag Q2_21_rating tag was added to gene: LIG3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.100 | LIG3 | Ivone Leong Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.99 | LIG3 | Ivone Leong Classified gene: LIG3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.99 | LIG3 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID:33855352. 3 unrelated families with 7 affected individuals. Clinical features of affected individuals resemble mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). All had severe dysmotility of the gut, leukoencephalopathy and/or progressive cortical atrophy. Cerebella atrophy was only seen in patients in family 3. Other neurological features were epilepsy, stroke-like episodes, migraine and developmental delay. 4 members from families 1 and 2 had macular degeneration, 1 member from family 3 had cataracts and hearing loss. Age of onset and disease severity differed, ranging from paediatric severe disease with premature death to adult cases. All affected members from the 3 families were compound heterozygous for different LIG3 variants. LIG3 variants cause impared ligase activity, mtDNA depletion and mitochondrial dysfunction. The authors also created a zebrafish model, which recapitulated the cerebellar phenotype (seen in mice) and eye defects and gut propulsion impairment (seen in patients). Knockdown of lig3 in zf also led to decrease in expression of mitochondrial markers. Knocking out Lig3 in mice led to early embryonic lethality with mitochondrial dysfunction due to reduced mtDNA in the nervous system (PMID: 21390131); however, gut motility was not investigated in these mice. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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White matter disorders and cerebral calcification - narrow panel v1.99 | LIG3 | Ivone Leong Gene: lig3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.98 | POLR3K |
Ivone Leong Tag watchlist tag was added to gene: POLR3K. Tag founder-effect tag was added to gene: POLR3K. |
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White matter disorders and cerebral calcification - narrow panel v1.98 | POLR3K | Ivone Leong Classified gene: POLR3K as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.98 | POLR3K |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 30584594. 2 affected individuals from 2 consanguineous families from same area in Algeria. Affected indviduals had global developmental delay with loss of motor, speech and cognitive milestones. Individuals also showed signs of nystagmus, ataxia, dystonia and spasticity. Both individuals had feeding difficulties and were tube fed, growth failure and microcephaly (-3 SD), and cryptorchidism. 1 patient had optic atrophy and hypodontia and the other patient had hypogonadotropic hypogonadism. Both individuals have the same variant (may be founder effect). As other members of the same gene family are linked to similar phenotypes this gene has been given an Amber rating. |
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White matter disorders and cerebral calcification - narrow panel v1.98 | POLR3K | Ivone Leong Gene: polr3k has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.97 | POLR3K | Ivone Leong Phenotypes for gene: POLR3K were changed from Hypomyelinating leukodystrophy-21, MIM#619310 to Leukodystrophy, hypomyelinating, 21, OMIM:619310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.96 | LSM7 | Ivone Leong Classified gene: LSM7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.96 | LSM7 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Currently there is not enough evidence to support a gene-disease association. Until there are more cases this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.96 | LSM7 | Ivone Leong Gene: lsm7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.95 | LSM7 | Ivone Leong Phenotypes for gene: LSM7 were changed from Leukodystrophy; fetal death to Leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.94 | ACER3 | Ivone Leong Classified gene: ACER3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.94 | ACER3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.94 | ACER3 | Ivone Leong Gene: acer3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.93 | ACER3 | Ivone Leong Tag watchlist tag was added to gene: ACER3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.93 | ACER3 | Ivone Leong Phenotypes for gene: ACER3 were changed from Leukodystrophy to ?Leukodystrophy, progressive, early childhood-onset, OMIM:617762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.92 | KIAA1161 | Ivone Leong Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047; 33958240, 30649222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.91 | KIAA1161 | Ivone Leong Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.90 | ZFYVE26 | Ivone Leong Classified gene: ZFYVE26 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.90 | ZFYVE26 | Ivone Leong Added comment: Comment on list classification: Promoted Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene is Green on the White matter disorders - adult onset (Version 1.10) panel. The age of onset can be in childhood. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.90 | ZFYVE26 | Ivone Leong Gene: zfyve26 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.89 | ZFYVE26 | Ivone Leong Tag Q2_21_rating tag was added to gene: ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.89 | KIAA1161 | Ivone Leong Phenotypes for gene: KIAA1161 were changed from to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.88 | KIAA1161 | Ivone Leong commented on gene: KIAA1161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.88 | KIAA1161 | Ivone Leong Tag new-gene-name tag was added to gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.88 | ERCC5 | Eleanor Williams Tag Q2_21_rating tag was added to gene: ERCC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.88 | ERCC5 | Eleanor Williams Classified gene: ERCC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.88 | ERCC5 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green but with a recommendation for amber or red rating following GMS review. As Expert reviewer reports there is no specific white matter abnormalities/leukodystrphy reported in the cases to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.88 | ERCC5 | Eleanor Williams Gene: ercc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.87 | ERCC5 | Eleanor Williams Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 to Cerebrooculofacioskeletal syndrome 3 OMIM:616570; Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.86 | ERCC5 | Eleanor Williams Publications for gene: ERCC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.85 | ERCC5 | Eleanor Williams reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 8818951, 9096355, 24700531, 11228268, 8317483; Phenotypes: Cerebrooculofacioskeletal syndrome 3 OMIM:616570, Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.85 | ERCC4 | Eleanor Williams Tag Q2_21_rating tag was added to gene: ERCC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.85 | ERCC4 | Eleanor Williams Phenotypes for gene: ERCC4 were changed from Xeroderma pigmentosum, type F/Cockayne syndrome, 278760; Xeroderma pigmentosum, group F, 278760 to Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760; XFE progeroid syndrome, OMIM:610965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.84 | ERCC4 | Eleanor Williams Publications for gene: ERCC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.83 | ERCC4 | Eleanor Williams Classified gene: ERCC4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.83 | ERCC4 | Eleanor Williams Added comment: Comment on list classification: Leaving as green for now, but with a recommendation for an amber rating following GMS review. One case where white matter lesions are reported as part of a broader phenotype and 2 cases with milder phenotypes related to white matter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.83 | ERCC4 | Eleanor Williams Gene: ercc4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.82 | ERCC4 | Eleanor Williams reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23623389, 29105242; Phenotypes: Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760, XFE progeroid syndrome, OMIM:610965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.82 | ERCC3 | Eleanor Williams Phenotypes for gene: ERCC3 were changed from Xeroderma pigmentosum, group B, 610651; Trichothiodystrophy, 601675 to Trichothiodystrophy 2, photosensitive, OMIM:616390; Xeroderma pigmentosum, group B, OMIM:610651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.81 | ERCC3 | Eleanor Williams Publications for gene: ERCC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.80 | ERCC3 | Eleanor Williams Classified gene: ERCC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.80 | ERCC3 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green, but with recommendation for red rating following GMS review. No evidence that variants in this gene is associated with white matter disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.80 | ERCC3 | Eleanor Williams Gene: ercc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.79 | ERCC3 | Eleanor Williams Tag Q2_21_rating tag was added to gene: ERCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.79 | ERCC3 | Eleanor Williams reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: 9012405, 2167179, 16947863, 8408834, 8304337; Phenotypes: Trichothiodystrophy 2, photosensitive, OMIM:616390, Xeroderma pigmentosum, group B, OMIM:610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.79 | FARSA | Ivone Leong Classified gene: FARSA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.79 | FARSA | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.79 | FARSA | Ivone Leong Gene: farsa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.78 | FARSA | Ivone Leong Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 to ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.77 | FARSA | Ivone Leong Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 to Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.76 | ZFYVE26 | Ivone Leong Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, MIM#270700 to Spastic paraplegia 15, autosomal recessive, OMIM:270700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.75 | ZFYVE26 | Ivone Leong Publications for gene: ZFYVE26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.74 | WARS2 | Ivone Leong Tag Q2_21_rating tag was added to gene: WARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.74 | WARS2 | Ivone Leong Classified gene: WARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.74 | WARS2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.74 | WARS2 | Ivone Leong Gene: wars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.73 | WARS2 | Ivone Leong Phenotypes for gene: WARS2 were changed from Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.72 | LSM7 |
Zornitza Stark gene: LSM7 was added gene: LSM7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034 Phenotypes for gene: LSM7 were set to Leukodystrophy; fetal death Review for gene: LSM7 was set to RED Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.72 | POLR3K |
Zornitza Stark gene: POLR3K was added gene: POLR3K was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310 Review for gene: POLR3K was set to AMBER Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.72 | LIG3 |
Zornitza Stark gene: LIG3 was added gene: LIG3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG3 were set to 33855352 Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy Review for gene: LIG3 was set to GREEN Added comment: Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.72 | ERCC2 | Eleanor Williams Classified gene: ERCC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.72 | ERCC2 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green, but with a recommendation of an amber rating following GMS review. Only one case reported with a white matter abnormality. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.72 | ERCC2 | Eleanor Williams Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.71 | ERCC2 | Eleanor Williams Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675 to Trichothiodystrophy 1, photosensitive, OMIM:601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.70 | ERCC2 | Eleanor Williams Publications for gene: ERCC2 were set to MIM#601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.69 | ERCC2 | Eleanor Williams Tag Q2_21_rating tag was added to gene: ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.69 | ERCC2 | Eleanor Williams commented on gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.69 | VPS11 | Ivone Leong Tag Q2_21_rating tag was added to gene: VPS11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.69 | VPS11 | Ivone Leong Classified gene: VPS11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.69 | VPS11 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.69 | VPS11 | Ivone Leong Gene: vps11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.68 | VPS11 | Ivone Leong Phenotypes for gene: VPS11 were changed from Leukodystrophy, hypomyelinating, 12, MIM#616683 to Leukodystrophy, hypomyelinating, 12, OMIM:616683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.67 | VPS11 | Ivone Leong Publications for gene: VPS11 were set to 26307567, 27120463 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.66 | UFM1 | Ivone Leong Tag Q2_21_rating tag was added to gene: UFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.66 | UFM1 | Ivone Leong Classified gene: UFM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.66 | UFM1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.66 | UFM1 | Ivone Leong Gene: ufm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.65 | UFM1 | Ivone Leong Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, OMIM:617899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.64 | TUFM | Ivone Leong commented on gene: TUFM: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.64 | TUFM | Ivone Leong Tag Q2_21_rating tag was added to gene: TUFM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.64 | TUFM | Ivone Leong Phenotypes for gene: TUFM were changed from Mitochondrial Leukoencephalopathy to Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 4, OMIM:610678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.63 | TUFM | Ivone Leong Added comment: Comment on publications: 25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.;25655951;17160893 (case report) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.63 | TUFM | Ivone Leong Publications for gene: TUFM were set to 25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.; 25655951; 17160893 (case report) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.62 | TMEM63A | Ivone Leong Tag Q2_21_rating tag was added to gene: TMEM63A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.62 | TMEM63A | Ivone Leong Publications for gene: TMEM63A were set to 31587869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Classified gene: TMEM63A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 33597727. 2 additional cases. PMID: 33785861. 1 additional case. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Gene: tmem63a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Classified gene: TMEM63A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 33597727. 2 additional cases. PMID: 33785861. 1 additional case. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Gene: tmem63a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.60 | TMEM63A | Ivone Leong Phenotypes for gene: TMEM63A were changed from Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 to Leukodystrophy, hypomyelinating, 19, transient infantile, OMIM:618688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.59 | AARS | Ivone Leong commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.59 | AARS | Ivone Leong Tag new-gene-name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.59 | AARS | Ivone Leong Classified gene: AARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.59 | AARS | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.59 | AARS | Ivone Leong Gene: aars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.58 | AARS | Ivone Leong Tag Q2_21_rating tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.58 | FIG4 | Eleanor Williams Classified gene: FIG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.58 | FIG4 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating at the next GMS review as there are 4 cases with variants in this gene and a leukoencephalopathy phenotype, plus a supportive mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.58 | FIG4 | Eleanor Williams Gene: fig4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.57 | FIG4 | Eleanor Williams Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Yunis-Varon syndrome, OMIM:216340; leukoencephalopathy, HP:0002352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.56 | FIG4 | Eleanor Williams Tag Q2_21_rating tag was added to gene: FIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.56 | FIG4 | Eleanor Williams commented on gene: FIG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.56 | ERCC1 |
Eleanor Williams changed review comment from: 4 patients reported with biallelic variants in ERCC1. In two cases there were developmental symptoms from birth. In the third neurodegenerative symptoms became apparent at age 15. And in the 4th family liver dysfunction was reported from a young age. No specific mention of white matter abnormalities. PMID: 17273966 - Jaspers et al 2007 - report a child (165TOR) with cerebro-oculo-facio-skeletal syndrome showing relatively mild impairment of Nucleotide excision repair (NER) but very severe developmental symptoms and death in early infancy. Compound heterozygous variants in ERCC1 were found (one nonsense and and one missense) each inherited from one parent. NMR showed simplified gyral pattern and cerebellar hypoplasia. NO specific white matter abnormalites are reported. PMID: 23623389 - Kashiyama et al 2013 - through targeted sequencing of ERCC1 and ERCC4 they report 1 patient with a homozygous missense variant. The child was diagnosed with Cockayne syndrome type II. Brain MRI at birth indicated a possible polymicrogyria; a NMR scan at 4 months of age showed large bilateral subdurals but no major visible malformations; at 9 months an abnormal electroencephalogram was recorded. Imoto K, Boyle J, Oh K, Khan S, Ueda T, Nadem C, Slor H, Orgal S, Gadoth N, Busch D, Jaspers NG, Tamura D, JJ DiGiovanna, Kraemer KH. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J Invest Dermatol. 2007;127 Supp. 92 - conference abstract - can't access. Review by Gregg et al 2011 (PMID: 21612988) report that this abstract describes a patient with compound het variants in ERCC1 (nonsense mutation and a splicing mutation). The patient showed progressive neurodegeneration from age 15 resulting in dementia and cortical atrophy. PMID: 33315086 - Apelt et al 2020 - describe 2 siblings with bi-allelic ERCC1 mutations (a missense and a deletion of exon 4) and a unique phenotype of short stature, photosensitivity, progressive cholestatic liver disease, and renal tubulopathy. Mild intellectual disability is reported. Brain magnetic resonance imaging (MRI) at 10 and 12 years for the respective siblings showed mild cerebral atrophy with moderate cerebellar atrophy, and mild brainstem atrophy in one sibling. ; to: 4 patients reported with biallelic variants in ERCC1. In two cases there were developmental symptoms from birth. In the third neurodegenerative symptoms became apparent at age 15. And in the 4th family liver dysfunction was reported from a young age. No specific mention of white matter abnormalities. PMID: 17273966 - Jaspers et al 2007 - report a child (165TOR) with cerebro-oculo-facio-skeletal syndrome showing relatively mild impairment of Nucleotide excision repair (NER) but very severe developmental symptoms and death in early infancy. Compound heterozygous variants in ERCC1 were found (one nonsense and and one missense) each inherited from one parent. NMR showed simplified gyral pattern and cerebellar hypoplasia. NO specific white matter abnormalites are reported. PMID: 23623389 - Kashiyama et al 2013 - through targeted sequencing of ERCC1 and ERCC4 they report 1 patient with a homozygous missense variant. The child (CS20LO) was diagnosed with Cockayne syndrome type II. Brain MRI at birth indicated a possible polymicrogyria; a NMR scan at 4 months of age showed large bilateral subdurals but no major visible malformations; at 9 months an abnormal electroencephalogram was recorded. Imoto K, Boyle J, Oh K, Khan S, Ueda T, Nadem C, Slor H, Orgal S, Gadoth N, Busch D, Jaspers NG, Tamura D, JJ DiGiovanna, Kraemer KH. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J Invest Dermatol. 2007;127 Supp. 92 - conference abstract - can't access. Review by Gregg et al 2011 (PMID: 21612988) report that this abstract describes a patient with compound het variants in ERCC1 (nonsense mutation and a splicing mutation). The patient showed progressive neurodegeneration from age 15 resulting in dementia and cortical atrophy. PMID: 33315086 - Apelt et al 2020 - describe 2 siblings with bi-allelic ERCC1 mutations (a missense and a deletion of exon 4) and a unique phenotype of short stature, photosensitivity, progressive cholestatic liver disease, and renal tubulopathy. Mild intellectual disability is reported. Brain magnetic resonance imaging (MRI) at 10 and 12 years for the respective siblings showed mild cerebral atrophy with moderate cerebellar atrophy, and mild brainstem atrophy in one sibling. |
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White matter disorders and cerebral calcification - narrow panel v1.56 | ERCC1 | Eleanor Williams Publications for gene: ERCC1 were set to 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure; 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 21612988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.55 | ERCC1 | Eleanor Williams edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 21612988, 33315086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.55 | ERCC1 |
Eleanor Williams changed review comment from: 3 patients reported with biallelic variants in ERCC1. In two cases there were developmental symptoms from birth. In the third neurodegenerative symptoms became apparent at age 15. No specific mention of white matter abnormalities. PMID: 17273966 - Jaspers et al 2007 - report a child (165TOR) with cerebro-oculo-facio-skeletal syndrome showing relatively mild impairment of Nucleotide excision repair (NER) but very severe developmental symptoms and death in early infancy. Compound heterozygous variants in ERCC1 were found (one nonsense and and one missense) each inherited from one parent. NMR showed simplified gyral pattern and cerebellar hypoplasia. NO specific white matter abnormalites are reported. PMID: 23623389 - Kashiyama et al 2013 - through targeted sequencing of ERCC1 and ERCC4 they report 1 patient with a homozygous missense variant. The child was diagnosed with Cockayne syndrome type II. Brain MRI at birth indicated a possible polymicrogyria; a NMR scan at 4 months of age showed large bilateral subdurals but no major visible malformations; at 9 months an abnormal electroencephalogram was recorded. Imoto K, Boyle J, Oh K, Khan S, Ueda T, Nadem C, Slor H, Orgal S, Gadoth N, Busch D, Jaspers NG, Tamura D, JJ DiGiovanna, Kraemer KH. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J Invest Dermatol. 2007;127 Supp. 92 - can't access paper. Not in PubMed but review by Gregg et al 2011 (PMID: 21612988) report that it describes a patient with compound het variants in ERCC1 (nonsense mutation and a splicing mutation). The patient showed progressive neurodegeneration from age 15 resulting in dementia and cortical atrophy.; to: 4 patients reported with biallelic variants in ERCC1. In two cases there were developmental symptoms from birth. In the third neurodegenerative symptoms became apparent at age 15. And in the 4th family liver dysfunction was reported from a young age. No specific mention of white matter abnormalities. PMID: 17273966 - Jaspers et al 2007 - report a child (165TOR) with cerebro-oculo-facio-skeletal syndrome showing relatively mild impairment of Nucleotide excision repair (NER) but very severe developmental symptoms and death in early infancy. Compound heterozygous variants in ERCC1 were found (one nonsense and and one missense) each inherited from one parent. NMR showed simplified gyral pattern and cerebellar hypoplasia. NO specific white matter abnormalites are reported. PMID: 23623389 - Kashiyama et al 2013 - through targeted sequencing of ERCC1 and ERCC4 they report 1 patient with a homozygous missense variant. The child was diagnosed with Cockayne syndrome type II. Brain MRI at birth indicated a possible polymicrogyria; a NMR scan at 4 months of age showed large bilateral subdurals but no major visible malformations; at 9 months an abnormal electroencephalogram was recorded. Imoto K, Boyle J, Oh K, Khan S, Ueda T, Nadem C, Slor H, Orgal S, Gadoth N, Busch D, Jaspers NG, Tamura D, JJ DiGiovanna, Kraemer KH. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J Invest Dermatol. 2007;127 Supp. 92 - conference abstract - can't access. Review by Gregg et al 2011 (PMID: 21612988) report that this abstract describes a patient with compound het variants in ERCC1 (nonsense mutation and a splicing mutation). The patient showed progressive neurodegeneration from age 15 resulting in dementia and cortical atrophy. PMID: 33315086 - Apelt et al 2020 - describe 2 siblings with bi-allelic ERCC1 mutations (a missense and a deletion of exon 4) and a unique phenotype of short stature, photosensitivity, progressive cholestatic liver disease, and renal tubulopathy. Mild intellectual disability is reported. Brain magnetic resonance imaging (MRI) at 10 and 12 years for the respective siblings showed mild cerebral atrophy with moderate cerebellar atrophy, and mild brainstem atrophy in one sibling. |
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White matter disorders and cerebral calcification - narrow panel v1.55 | ERCC1 | Eleanor Williams Classified gene: ERCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.55 | ERCC1 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green for now, but with recommendation for amber or red rating at the next GMS review. There does not appear to be evidence that this is a white matter disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.55 | ERCC1 | Eleanor Williams Gene: ercc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.54 | ERCC1 | Eleanor Williams Publications for gene: ERCC1 were set to 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure; 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.53 | ERCC1 |
Eleanor Williams edited their review of gene: ERCC1: Added comment: 3 patients reported with biallelic variants in ERCC1. In two cases there were developmental symptoms from birth. In the third neurodegenerative symptoms became apparent at age 15. No specific mention of white matter abnormalities. PMID: 17273966 - Jaspers et al 2007 - report a child (165TOR) with cerebro-oculo-facio-skeletal syndrome showing relatively mild impairment of Nucleotide excision repair (NER) but very severe developmental symptoms and death in early infancy. Compound heterozygous variants in ERCC1 were found (one nonsense and and one missense) each inherited from one parent. NMR showed simplified gyral pattern and cerebellar hypoplasia. NO specific white matter abnormalites are reported. PMID: 23623389 - Kashiyama et al 2013 - through targeted sequencing of ERCC1 and ERCC4 they report 1 patient with a homozygous missense variant. The child was diagnosed with Cockayne syndrome type II. Brain MRI at birth indicated a possible polymicrogyria; a NMR scan at 4 months of age showed large bilateral subdurals but no major visible malformations; at 9 months an abnormal electroencephalogram was recorded. Imoto K, Boyle J, Oh K, Khan S, Ueda T, Nadem C, Slor H, Orgal S, Gadoth N, Busch D, Jaspers NG, Tamura D, JJ DiGiovanna, Kraemer KH. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J Invest Dermatol. 2007;127 Supp. 92 - can't access paper. Not in PubMed but review by Gregg et al 2011 (PMID: 21612988) report that it describes a patient with compound het variants in ERCC1 (nonsense mutation and a splicing mutation). The patient showed progressive neurodegeneration from age 15 resulting in dementia and cortical atrophy.; Changed rating: AMBER; Changed publications: 17273966, 23623389, 21612988; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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White matter disorders and cerebral calcification - narrow panel v1.53 | ERCC1 | Eleanor Williams Added comment: Comment on phenotypes: Only associated with Cerebrooculofacioskeletal syndrome 4 in OMIM and Gene2Phenotype so removing Xeroderma pigmentosum as a phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.53 | ERCC1 | Eleanor Williams Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosum to Cerebrooculofacioskeletal syndrome 4, OMIM:610758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.52 | EPRS | Eleanor Williams Classified gene: EPRS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.52 | EPRS | Eleanor Williams Gene: eprs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.51 | EPRS | Eleanor Williams Tag Q2_21_rating tag was added to gene: EPRS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.51 | EPRS | Eleanor Williams Classified gene: EPRS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.51 | EPRS | Eleanor Williams Added comment: Comment on list classification: promoting from grey to amber but with recommendation for green rating following GMS review. 4 unrelated cases, presentation before age of 18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.51 | EPRS | Eleanor Williams Gene: eprs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.50 | EPRS |
Eleanor Williams edited their review of gene: EPRS: Added comment: As reported by the expert reviewer PMID: 29576217 (Mendes et al 2018) reports 4 unrelated affected individuals with hypomyelination and biallelic (homozygous or compound het) pathogenic variants in EPRS. 5 variants in total identified (1 nonsense, 1 frameshift, 3 missense). Variants segregated with the disease in all 4 families. All 4 presented initially before the age of 18 and in all brain MRI showed a hypomyelinating leukodystrophy with thinning of the corpus callosum. In 3 cases the variant was identified by WES, in one by direct sequencing of EPRS1. PMID: 33805425 - Sawaguchi et al 2021 - using a mouse model they show that EPRS1 variant Arg339-to-Ter (R339X) (found in one of the patients in Mendes et al in heterozgyous state with another variant) localizes EPRS1 proteins as polymeric aggregates into Rab7-positive vesicle structures in mouse oligodendroglial FBD-102b cells. Wild-type proteins are distributed throughout the cell bodies. This seems to inhibit cell morphological differentiation.; Changed rating: GREEN; Changed publications: 29576217, 33805425; Changed phenotypes: Leukodystrophy, hypomyelinating, 15, OMIM:617951; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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White matter disorders and cerebral calcification - narrow panel v1.50 | EPRS | Eleanor Williams commented on gene: EPRS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.50 | EPRS | Eleanor Williams Tag new-gene-name tag was added to gene: EPRS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.50 | DEGS1 | Eleanor Williams Classified gene: DEGS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.50 | DEGS1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating at the next GMS review. >3 cases reported with a plausible disease causing variant in DEGS1. Presentation is in young children. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.50 | DEGS1 | Eleanor Williams Gene: degs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.49 | DEGS1 | Eleanor Williams Tag Q2_21_rating tag was added to gene: DEGS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.49 | DEGS1 | Eleanor Williams Phenotypes for gene: DEGS1 were changed from Leukodystrophy, hypomyelinating, 18, MIM#618404 to Leukodystrophy, hypomyelinating, 18, OMIM:618404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.48 | DEGS1 | Eleanor Williams Publications for gene: DEGS1 were set to 30620338; 30620337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.47 | DEGS1 | Eleanor Williams reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30620338, 30620337, 31186544; Phenotypes: Leukodystrophy, hypomyelinating, 18, OMIM:618404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.47 | DCAF17 | Eleanor Williams Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, MIM# 241080 to Woodhouse-Sakati syndrome, OMIM:241080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.46 | DCAF17 | Eleanor Williams Publications for gene: DCAF17 were set to 19026396; 20507343 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.45 | DCAF17 |
Eleanor Williams changed review comment from: Associated with Woodhouse-Sakati syndrome in OMIM (#241080 (AR)) DCAF17 is also known as C2ORF37 PMID: 19026396 - Alazami et al 2008 - report single bp deletion in C2orf37 in 8 families of Saudi origin (identified as a founder mutation). Patients phenotypes included hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (Woodhouse-Sakati syndrome). 3 other variants were then found in patients of different ethnicities (another 1 bp deletion leading to a frameshift and 2 variants affecting splice donor sites). The variants segregated with the disease in all families. The two 1 bp changes are predicted to affect the beta isoform only. PMID: 20507343 - Alazami et al 2010 - report 7 new patients from 4 families (3 ethnic backgrounds, Italian, French Gypsy and Turkish) who present with Woodhouse-Sakati syndrome. Each family had a different variant in C2orf37 - 3 nonsense mutations and a splice site ablation. PMID: 30409855 - Abusrair et al 2018 - reviewed brain MR images of 26 patients with a clinical and genetic diagnosis of Woodhouse-Sakati syndrome. All participants had confirmed homozygous pathogenic variants in DCAF17. White matter lesions were observed in 18 patients (69.2%).; to: Associated with Woodhouse-Sakati syndrome in OMIM (#241080 (AR)) DCAF17 is also known as C2ORF37 PMID: 19026396 - Alazami et al 2008 - report single bp deletion in C2orf37 in 8 families of Saudi origin (identified as a founder mutation). Patients phenotypes included hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (Woodhouse-Sakati syndrome). 3 other variants were then found in patients of different ethnicities (another 1 bp deletion leading to a frameshift and 2 variants affecting splice donor sites). The variants segregated with the disease in all families. The two 1 bp changes are predicted to affect the beta isoform only. PMID: 20507343 - Alazami et al 2010 - report 7 new patients from 4 families (3 ethnic backgrounds, Italian, French Gypsy and Turkish) who present with Woodhouse-Sakati syndrome. Each family had a different variant in C2orf37 - 3 nonsense mutations and a splice site ablation. PMID: 30409855 - Abusrair et al 2018 - reviewed brain MR images of 26 patients with a clinical and genetic diagnosis of Woodhouse-Sakati syndrome. All participants had confirmed homozygous pathogenic variants in DCAF17. White matter lesions were observed in 18 patients (69.2%). PMID: 31726291 - Bohlega et al 2019 - report on 38 individuals from 17 families were identified as having a clinically and genetically confirmed diagnosis of WSS. All patients shared the same founder DCAF17: NM_001164821:exon4: c.436delC:p.L146fs frameshift deletion. Two groups identified based on phenotype. The age of onset of neurological symptoms for the group with the more severe phenotype was 12.6 ± 4.5 years (range, 9–17 years). |
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White matter disorders and cerebral calcification - narrow panel v1.45 | DCAF17 | Eleanor Williams Classified gene: DCAF17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.45 | DCAF17 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but with a recommendation for green rating following GMS review. >3 cases of variants in DCAF17 in patients with Woodhouse-Sakati syndrome and white matter lesions observed in approx 70% of patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.45 | DCAF17 | Eleanor Williams Gene: dcaf17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.44 | DCAF17 | Eleanor Williams Tag Q2_21_rating tag was added to gene: DCAF17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.44 | DCAF17 | Eleanor Williams reviewed gene: DCAF17: Rating: ; Mode of pathogenicity: None; Publications: 19026396, 20507343, 30409855; Phenotypes: Woodhouse-Sakati syndrome OMIM:241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.44 | ACBD5 | Arina Puzriakova Phenotypes for gene: ACBD5 were changed from Retinal dystrophy with leukodystrophy, OMIM:618863 to Retinal dystrophy with leukodystrophy, OMIM:618863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.43 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to 23105016; 27899449; 27799409; 33427402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.42 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.41 | ACBD5 | Arina Puzriakova Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy, OMIM:618863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.40 | ACBD5 | Arina Puzriakova Classified gene: ACBD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.40 | ACBD5 | Arina Puzriakova Added comment: Comment on list classification: There is are sufficient unrelated cases (3) to support a diagnostic-grade classification (Green) at the next GMS panel update | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.40 | ACBD5 | Arina Puzriakova Gene: acbd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | ACBD5 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACBD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | ACBD5 | Arina Puzriakova reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 27799409, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | CLDN11 | Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM (entry last edited on 01/14/2013) or Gen2Phen. Two stop loss variants reported in three unrelated cases. Both variants resulted in an 39aa extension - c.622T>C, p.(208Glnext*39) in two individuals and c.622T>G, p.(*208Gluext*39) in one individual, all occurring de novo. At the RNA level, the variant c.622T>C did not lead to a loss of expression in fibroblasts, indicating this transcript is not subject to nonsense-mediated decay (PMID 33313762). The reporting authors predict that the extended claudin-11 forms an alpha helix which is not incorporated into the cytoplasmic membrane, possibly perturbing its interaction with intracellular proteins.; to: Not associated with relevant phenotype in OMIM (entry last edited on 01/14/2013) or Gen2Phen. Two stop loss variants reported in three unrelated cases. Both variants resulted in an 39aa extension - c.622T>C, p.(208Glnext*39) in two individuals and c.622T>G, p.(208Gluext*39) in one individual, all occurring de novo. At the RNA level, the variant c.622T>C did not lead to a loss of expression in fibroblasts, indicating this transcript is not subject to nonsense-mediated decay (PMID 33313762). The reporting authors predict that the extended claudin-11 forms an alpha helix which is not incorporated into the cytoplasmic membrane, possibly perturbing its interaction with intracellular proteins. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | CLDN11 | Sarah Leigh edited their review of gene: CLDN11: Added comment: Not associated with relevant phenotype in OMIM (entry last edited on 01/14/2013) or Gen2Phen. Two stop loss variants reported in three unrelated cases. Both variants resulted in an 39aa extension - c.622T>C, p.(208Glnext*39) in two individuals and c.622T>G, p.(*208Gluext*39) in one individual, all occurring de novo. At the RNA level, the variant c.622T>C did not lead to a loss of expression in fibroblasts, indicating this transcript is not subject to nonsense-mediated decay (PMID 33313762). The reporting authors predict that the extended claudin-11 forms an alpha helix which is not incorporated into the cytoplasmic membrane, possibly perturbing its interaction with intracellular proteins.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | CLDN11 | Sarah Leigh Tag Q2_21_rating tag was added to gene: CLDN11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | CLDN11 | Sarah Leigh Classified gene: CLDN11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | CLDN11 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.39 | CLDN11 | Sarah Leigh Gene: cldn11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.38 | CLDN11 |
Zornitza Stark gene: CLDN11 was added gene: CLDN11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy Review for gene: CLDN11 was set to GREEN gene: CLDN11 was marked as current diagnostic Added comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.38 | FA2H | Sarah Leigh edited their review of gene: FA2H: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least eight variants reported in seven unrelated cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.38 | FA2H | Sarah Leigh Tag Q2_21_rating tag was added to gene: FA2H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.38 | FA2H | Sarah Leigh Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive OMIM:612319; hereditary spastic paraplegia 35 MONDO:0012866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.37 | FA2H | Sarah Leigh Publications for gene: FA2H were set to MIM#612319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.36 | FA2H | Sarah Leigh Classified gene: FA2H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.36 | FA2H | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.36 | FA2H | Sarah Leigh Gene: fa2h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.35 | COA7 | Sarah Leigh edited their review of gene: COA7: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in at least five unrelated cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.35 | COA7 | Sarah Leigh Tag Q2_21_rating tag was added to gene: COA7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.35 | COA7 | Sarah Leigh Classified gene: COA7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.35 | COA7 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.35 | COA7 | Sarah Leigh Gene: coa7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.34 | COA7 | Sarah Leigh Publications for gene: COA7 were set to 27683825; 29718187 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.33 | COA7 | Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.32 | RNU7-1 | Arina Puzriakova Classified gene: RNU7-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.32 | RNU7-1 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - extensive intracranial calcification and white matter abnormalities were a commonly reported feature in patients with biallelic variants in this gene (PMID:33230297) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.32 | RNU7-1 | Arina Puzriakova Gene: rnu7-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.31 | RNU7-1 |
Arina Puzriakova gene: RNU7-1 was added gene: RNU7-1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature for-review tags were added to gene: RNU7-1. Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like; Type I interferonopathy Review for gene: RNU7-1 was set to GREEN Added comment: Not associated with any phenotype in OMIM or Gene2Phenotype. - PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.30 | AP4B1 | Arina Puzriakova Tag for-review tag was added to gene: AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.30 | AP4B1 | Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive MIM#614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.29 | AP4B1 | Arina Puzriakova Publications for gene: AP4B1 were set to 29193663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.28 | AP4B1 | Arina Puzriakova Classified gene: AP4B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.28 | AP4B1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag). Literature search revealed at least 24 unrelated published families with biallelic variants in this gene. Disorder mainly characterised by HSP but white matter loss is reported in over half of patients (see Publications list) |
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White matter disorders and cerebral calcification - narrow panel v1.28 | AP4B1 | Arina Puzriakova Gene: ap4b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.27 | AARS | Arina Puzriakova Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339 to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.26 | STN1 | Sarah Leigh edited their review of gene: STN1: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in three unrelated cases, together with a supportive zebrafish model and other functional studies.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.26 | STN1 | Sarah Leigh Tag for-review tag was added to gene: STN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.26 | STN1 | Sarah Leigh Classified gene: STN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.26 | STN1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.26 | STN1 | Sarah Leigh Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.25 | STN1 | Sarah Leigh Phenotypes for gene: STN1 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.24 | SCO1 | Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.23 | TMEM106B | Arina Puzriakova Phenotypes for gene: TMEM106B were changed from Leukodystrophy, hypomyelinating 16, MIM#617964 to Leukodystrophy, hypomyelinating, 16, OMIM:617964; Leukodystrophy, hypomyelinating, 16, MONDO:0054791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.22 | TMEM106B | Arina Puzriakova Tag missense tag was added to gene: TMEM106B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.22 | TMEM106B | Arina Puzriakova Publications for gene: TMEM106B were set to 29186371, 29444210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.21 | TMEM106B | Arina Puzriakova Classified gene: TMEM106B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.21 | TMEM106B | Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (6) to promote the rating to Green at the next GMS panel update - hypomyelinating leukodystrophy is the predominant feature of the disease presentation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.21 | TMEM106B | Arina Puzriakova Gene: tmem106b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.20 | TMEM106B | Arina Puzriakova Tag for-review tag was added to gene: TMEM106B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.20 | TMEM106B | Arina Puzriakova reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29186371, 29444210, 30643851, 32595021; Phenotypes: Leukodystrophy, hypomyelinating, 16 OMIM:617964; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.20 | STN1 |
Zornitza Stark gene: STN1 was added gene: STN1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940; 32627942 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Review for gene: STN1 was set to GREEN Added comment: Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.20 | ACER3 |
Zornitza Stark gene: ACER3 was added gene: ACER3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 32816236; 26792856 Phenotypes for gene: ACER3 were set to Leukodystrophy Review for gene: ACER3 was set to AMBER Added comment: Two families reported with bi-allelic variants, and paediatric onset progressive leukodystorphy. Functional data demonstrating ACER3 deficiency. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.20 | SCAF4 | Arina Puzriakova Classified gene: SCAF4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.20 | SCAF4 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene Green at the next GMS panel update - sufficient number of unrelated cases presenting white matter anomalies associated with distinct variants in SCAF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.20 | SCAF4 | Arina Puzriakova Gene: scaf4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.19 | SCAF4 |
Arina Puzriakova gene: SCAF4 was added gene: SCAF4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature for-review tags were added to gene: SCAF4. Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities Review for gene: SCAF4 was set to GREEN Added comment: Currently not associated with any phenotype in OMIM (last edited on 23/09/2014), but is a probable gene SCAF4-related Neurodevelopmental Disorder in Gen2Phen. PMID: 32730804 (2020) - At least 8 unrelated patients with likely pathogenic variants in SCAF4 and mild DD/ID, seizures behavioural abnormalities, and various skeletal, renal and cardiac anomalies. 7 de novo and 1 inherited variant. Brain MRIs were performed in five individuals showing nonspecific white matter anomalies in three of them. One other individual was diagnosed with pontocerebellar hypoplasia and a thin corpus callosum. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.18 | USP18 | Arina Puzriakova commented on gene: USP18: Added 'treatable' tag as clinical remission was achieved in a patient following rapid genetic diagnosis and subsequent treatment with the JAK inhibitor ruxolitinib | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.18 | USP18 | Arina Puzriakova reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: 12833411, 27325888, 31940699; Phenotypes: Pseudo-TORCH syndrome 2, 617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.18 | USP18 | Arina Puzriakova Publications for gene: USP18 were set to PMID: 27325888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.17 | USP18 | Arina Puzriakova Phenotypes for gene: USP18 were changed from pseudo-TORCH syndrome to Pseudo-TORCH syndrome 2, 617397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.16 | USP18 | Arina Puzriakova Tag treatable tag was added to gene: USP18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.16 | KIAA1161 |
Zornitza Stark gene: KIAA1161 was added gene: KIAA1161 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31951047 Review for gene: KIAA1161 was set to GREEN Added comment: PMID 31951047: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16). HGNC approved name is MYORG. Note additional publications supporting association with bi-allelic variants. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.16 | FARSA |
Zornitza Stark gene: FARSA was added gene: FARSA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSA were set to 31355908 Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 Review for gene: FARSA was set to RED Added comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.16 | NUP188 | Arina Puzriakova Classified gene: NUP188 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.16 | NUP188 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next major review - abnormalities on brain MRI are reported in all affected individuals to date, including loss of white matter (4/8) and delayed myelination (5/8) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.16 | NUP188 | Arina Puzriakova Gene: nup188 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.15 | NUP188 |
Arina Puzriakova gene: NUP188 was added gene: NUP188 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature for-review tags were added to gene: NUP188. Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 32275884 Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, 618804 Review for gene: NUP188 was set to GREEN Added comment: Associated with Sandestig-Stefanova syndrome in OMIM, but not yet in G2P. - PMID: 32021605 (2020) - Two unrelated patients with different homozygous nonsense variants of NUP188, c.287dupA, p.Tyr96* and c.337C>T, p.Gln113*, respectively. Authors note strikingly comparable phenotypes including pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, ventricular septal defect, and brain MRI anomalies (ventriculomegaly, loss of periventricular white matter, thin corpus callosum, and delayed myelination). Both ultimately died as a result of central respiratory failure at the age of 67 and 140 days, respectively. - PMID: 32275884 (2020) - Six individuals from four unrelated families with bi-allelic truncating variants in NUP188 and similar phenotypes characterised by prenatal-onset ventriculomegaly or suspected brain malformation (4/6), congenital cataracts (4/6), congenital heart defects (5/5), hypotonia (5/6), brain MRI abnormalities (6/6) including ventriculomegaly loss of white-matter, hypoplastic corpus callosum, and delayed myelination. Progressive microcephaly consistent with a neurodegenerative process was noted in at least 3 cases. All six patients died of respiratory failure or respiratory-related illness: five within the first seven months of life; and the sixth at 2 years and 7 months, who also has severe ID and was non-ambulatory. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.14 | VPS11 | Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | WARS2 |
Zornitza Stark gene: WARS2 was added gene: WARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WARS2 were set to 31282308; 28650581; 30920170 Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Review for gene: WARS2 was set to GREEN gene: WARS2 was marked as current diagnostic Added comment: At least three affected individuals where white matter changes were a prominent feature of the phenotype. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | ZFYVE26 | Zornitza Stark reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 19084844; Phenotypes: Spastic paraplegia 15, autosomal recessive, MIM# 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | UFM1 |
Zornitza Stark gene: UFM1 was added gene: UFM1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 28931644; 29868776 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, MIM# 617899 Review for gene: UFM1 was set to GREEN gene: UFM1 was marked as current diagnostic Added comment: 16 children from Roma descent reported initially, all had homozygous 3bp deletion in the promoter of UFM1 (founder). Another 4 individuals from 2 Sudanese families reported subsequently, with missense variant in gene. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | TUFM | Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM# 610678, Mitochondrial Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | TMEM63A |
Zornitza Stark gene: TMEM63A was added gene: TMEM63A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 Review for gene: TMEM63A was set to GREEN Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants, three of which were de novo. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | TMEM106B | Zornitza Stark edited their review of gene: TMEM106B: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | TMEM106B | Zornitza Stark reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29186371, 29444210, 28728022, 30643851; Phenotypes: Leukodystrophy, hypomyelinating, 16 617964; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | SPG11 | Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 18067136; Phenotypes: Spastic paraplegia 11, autosomal recessive, MIM# 604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | SPART | Zornitza Stark reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 28875386, 15372254; Phenotypes: Troyer syndrome 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | SNORD118 | Zornitza Stark reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | SDHA | Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22972948; Phenotypes: Mitochondrial respiratory chain complex II deficiency, MIM#252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | RPIA |
Zornitza Stark gene: RPIA was added gene: RPIA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 31247379; 14988808; 31056085 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611 Review for gene: RPIA was set to GREEN Added comment: Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | RAB11B | Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 29720545; 29152901; 30664625 Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic Added comment: White matter changes described in many individuals. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | POLH | Zornitza Stark reviewed gene: POLH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | NFU1 |
Zornitza Stark gene: NFU1 was added gene: NFU1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 21944046; 22077971; 32747156; 29441221 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Review for gene: NFU1 was set to GREEN gene: NFU1 was marked as current diagnostic Added comment: Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | NAXE | Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | NAXD |
Zornitza Stark gene: NAXD was added gene: NAXD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 30576410 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Review for gene: NAXD was set to GREEN gene: NAXD was marked as current diagnostic Added comment: Six unrelated families reported. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | MPLKIP | Zornitza Stark reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 4, nonphotosensitive 234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | KIF5A |
Zornitza Stark gene: KIF5A was added gene: KIF5A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 27463701; 27414745 Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal, MIM# 617235 Review for gene: KIF5A was set to GREEN gene: KIF5A was marked as current diagnostic Added comment: Variants in KIF5A cause a range of phenotypes with variable range of onset including spastic paraplegia and neuropathy. Three unrelated families reported with de novo frame-shifts in the C-terminal domain of KIF5A and neonatal intractable myoclonus, a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants had intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging showed a progressive leukoencephalopathy. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | ISCA2 | Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | ISCA1 |
Zornitza Stark gene: ISCA1 was added gene: ISCA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Review for gene: ISCA1 was set to GREEN gene: ISCA1 was marked as current diagnostic Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | HSPD1 | Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | HIKESHI |
Zornitza Stark gene: HIKESHI was added gene: HIKESHI was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 26545878 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881 Review for gene: HIKESHI was set to GREEN gene: HIKESHI was marked as current diagnostic Added comment: Six children from three unrelated Ashkenazi Jewish families reported, segregating same homozygous variant. Neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. Other features: visual impairment; cardiac failure during acute illness. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | GTF2H5 | Zornitza Stark reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | GLRX5 |
Zornitza Stark gene: GLRX5 was added gene: GLRX5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRX5 were set to 24334290; 30770271 Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859 Review for gene: GLRX5 was set to GREEN gene: GLRX5 was marked as current diagnostic Added comment: PMID: 24334290 - 3 patients (3 families) with non-ketotic hyperglycinemia, supported by functional studies. Patients had normal development with childhood-onset spastic paraplegia (3/3), spinal lesion (1/3), optic atrophy (1/3) and brain signal abnormalities involving the frontal and parietal white matter (2/3) PMID: 30770271 - 1 patient with childhood onset cavitating leukoencephalopathy. p.Lys51del is a recurring variant. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 25691190 Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 Review for gene: GLB1 was set to GREEN gene: GLB1 was marked as current diagnostic Added comment: Well established gene-disease association, white matter changes are a feature. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | FIG4 |
Zornitza Stark gene: FIG4 was added gene: FIG4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 30740813; 29688489 Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy Review for gene: FIG4 was set to GREEN gene: FIG4 was marked as current diagnostic Added comment: Four unrelated families reported with bi-allelic variants in this gene and a leukoencephalopathy phenotype. Mouse model recapitulates the phenotype. Please note gene is associated with multiple other phenotypes including Yunis-Varon syndrome, CMT, ALS Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | FA2H | Zornitza Stark reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31837835, 30446360, 22965561, 21592092; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | ERCC5 | Zornitza Stark reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3 616570, Xeroderma pigmentosum, group G 278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | ERCC4 | Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM# 278760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | ERCC3 | Zornitza Stark reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 2, photosensitive 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | ERCC2 | Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29451896; Phenotypes: Trichothiodystrophy 1, photosensitive 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | ERCC1 | Zornitza Stark reviewed gene: ERCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 4 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | EPRS |
Zornitza Stark gene: EPRS was added gene: EPRS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 29576217 Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM# 617951 Review for gene: EPRS was set to GREEN gene: EPRS was marked as current diagnostic Added comment: Four unrelated families reported with this neurodegenerative disorder. Onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, dysphagia, severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | DEGS1 |
Zornitza Stark gene: DEGS1 was added gene: DEGS1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 30620338; 30620337 Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18, MIM#618404 Review for gene: DEGS1 was set to GREEN gene: DEGS1 was marked as current diagnostic Added comment: 20 individuals from 14 unrelated families. Hypomyelinating leukodystorphy is the prominent feature of this condition. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | DCAF17 |
Zornitza Stark gene: DCAF17 was added gene: DCAF17 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF17 were set to 19026396; 20507343 Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080 Review for gene: DCAF17 was set to GREEN gene: DCAF17 was marked as current diagnostic Added comment: White matter changes are part of the phenotype. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | CYP7B1 | Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24117163, 19439420, 19187859; Phenotypes: Spastic paraplegia 5A, autosomal recessive, MIM# 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | COA7 |
Zornitza Stark gene: COA7 was added gene: COA7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Review for gene: COA7 was set to GREEN gene: COA7 was marked as current diagnostic Added comment: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Paediatric age of onset. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | CNTNAP1 | Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29882456; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM# 618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 27899912 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129 Review for gene: CLPP was set to GREEN gene: CLPP was marked as current diagnostic Added comment: Prominent white matter changes identified in at least three unrelated individuals. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | BOLA3 | Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOPT1 were set to 25175347 Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110 Review for gene: APOPT1 was set to GREEN gene: APOPT1 was marked as current diagnostic Added comment: Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 29193663 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive MIM#614066 Review for gene: AP4B1 was set to GREEN gene: AP4B1 was marked as current diagnostic Added comment: White matter changes have been reported as a feature of the condition in at least ten unrelated cases with biallelic variants. The onset of the condition is in childhood. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 28842795; 27102849 Phenotypes for gene: AIFM1 were set to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Review for gene: AIFM1 was set to GREEN Added comment: Seven unrelated families reported with X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL), an X-linked recessive developmental disorder characterised by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 28493438; 25817015 Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM# 616339 Review for gene: AARS was set to GREEN gene: AARS was marked as current diagnostic Added comment: Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families. Sources: Expert list |
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White matter disorders and cerebral calcification - narrow panel v1.14 | LAMB1 | Zornitza Stark reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29888467, 25925986; Phenotypes: Cystic leukoencephalopathy; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | CNP |
Zornitza Stark gene: CNP was added gene: CNP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNP were set to 32128616; 12590258 Phenotypes for gene: CNP were set to Hypomyelinating leukodystrophy Review for gene: CNP was set to AMBER Added comment: Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling). Loss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts. Deficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family. Sources: Literature |
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White matter disorders and cerebral calcification - narrow panel v1.14 | RNF113A | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.13 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.12 | Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.11 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.10 | Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.9 | RARS | Louise Daugherty Tag new-gene-name tag was added to gene: RARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.9 | RARS | Louise Daugherty commented on gene: RARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.9 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.9 | DARS | Louise Daugherty commented on gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.9 | POLG2 | Sarah Leigh Publications for gene: POLG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.8 | POLG2 | Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.8 | POLG2 | Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.5 | L2HGDH | Louise Daugherty Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.4 | COQ8A | Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.3 | CYP27A1 | Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.2 | DARS2 | Louise Daugherty Phenotypes for gene: DARS2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.1 | FOLR1 | Louise Daugherty Phenotypes for gene: FOLR1 were changed from Neurodegeneration due to cerebral folate transport deficiency to Neurodegeneration due to cerebral folate transport deficiency, 613068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.18 | ARSA | Louise Daugherty Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy (Arylsulfatase A Deficiency) to Metachromatic leukodystrophy, 250100; Arylsulfatase A Deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.17 | AP1S2 | Louise Daugherty Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia to Calcifications in basal ganglia; Mental retardation, X-linked syndromic 5, 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.16 | ASPA | Louise Daugherty Phenotypes for gene: ASPA were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951 to General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.14 | Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | GJB1 |
Ellen McDonagh gene: GJB1 was added gene: GJB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLG2 |
Ellen McDonagh gene: POLG2 was added gene: POLG2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TREX1 | Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive 225750; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Vasculopathy, retinal, with cerebral leukodystrophy 192315 for gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | SLC25A12 |
Ellen McDonagh gene: SLC25A12 was added gene: SLC25A12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SDHD |
Ellen McDonagh gene: SDHD was added gene: SDHD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SCO2 |
Ellen McDonagh gene: SCO2 was added gene: SCO2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SCO1 |
Ellen McDonagh gene: SCO1 was added gene: SCO1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASET2 |
Ellen McDonagh gene: RNASET2 was added gene: RNASET2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PSAP |
Ellen McDonagh gene: PSAP was added gene: PSAP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 249900 Phenotypes for gene: PSAP were set to Combined SAP deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLR3A |
Ellen McDonagh gene: POLR3A was added gene: POLR3A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLR1C |
Ellen McDonagh gene: POLR1C was added gene: POLR1C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLG |
Ellen McDonagh gene: POLG was added gene: POLG was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX19 |
Ellen McDonagh gene: PEX19 was added gene: PEX19 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NKX6-2 |
Ellen McDonagh gene: NKX6-2 was added gene: NKX6-2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFAF3 |
Ellen McDonagh gene: NDUFAF3 was added gene: NDUFAF3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MCOLN1 |
Ellen McDonagh gene: MCOLN1 was added gene: MCOLN1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GALC |
Ellen McDonagh gene: GALC was added gene: GALC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe disease |
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White matter disorders and cerebral calcification - narrow panel v0.11 | FOLR1 |
Ellen McDonagh gene: FOLR1 was added gene: FOLR1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DPYD |
Ellen McDonagh gene: DPYD was added gene: DPYD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity 274270 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DARS |
Ellen McDonagh gene: DARS was added gene: DARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ARSA |
Ellen McDonagh gene: ARSA was added gene: ARSA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (Arylsulfatase A Deficiency) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | AIMP1 |
Ellen McDonagh gene: AIMP1 was added gene: AIMP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TUBB2B |
Ellen McDonagh gene: TUBB2B was added gene: TUBB2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TUBB2B was set to Unknown Phenotypes for gene: TUBB2B were set to Cerebral Malformation Disorders |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TUBA8 |
Ellen McDonagh gene: TUBA8 was added gene: TUBA8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TUBA8 was set to Unknown Phenotypes for gene: TUBA8 were set to Cerebral Malformation Disorders |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PMP22 |
Ellen McDonagh gene: PMP22 was added gene: PMP22 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PMP22 was set to Unknown Phenotypes for gene: PMP22 were set to Neuropathy,inflammatory demyelinating,139393 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NOTCH3 |
Ellen McDonagh gene: NOTCH3 was added gene: NOTCH3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: NOTCH3 was set to Unknown Phenotypes for gene: NOTCH3 were set to CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MAT1A |
Ellen McDonagh gene: MAT1A was added gene: MAT1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Unknown Publications for gene: MAT1A were set to 8770875 Phenotypes for gene: MAT1A were set to Calcifications in basal ganglia; Methionine adenosyltransferase deficiency, autosomal recessive |
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White matter disorders and cerebral calcification - narrow panel v0.11 | HTRA1 |
Ellen McDonagh gene: HTRA1 was added gene: HTRA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: HTRA1 was set to Unknown Phenotypes for gene: HTRA1 were set to CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |
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White matter disorders and cerebral calcification - narrow panel v0.11 | HSPD1 |
Ellen McDonagh gene: HSPD1 was added gene: HSPD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: HSPD1 was set to Unknown Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EGR2 |
Ellen McDonagh gene: EGR2 was added gene: EGR2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: EGR2 was set to Unknown Phenotypes for gene: EGR2 were set to Neuropathy, congenital hypomyelinating, 1, 605253; Charcot-Marie-Tooth disease,type 1D,607678; Dejerine-Sottas disease,145900 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DDB1 |
Ellen McDonagh gene: DDB1 was added gene: DDB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: DDB1 was set to Unknown |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SLC16A2 |
Ellen McDonagh gene: SLC16A2 was added gene: SLC16A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC16A2 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: SLC16A2 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524 Phenotypes for gene: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8); Allan-Herndon-Dudley syndrome |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNF113A |
Ellen McDonagh gene: RNF113A was added gene: RNF113A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RNF113A 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: RNF113A were set to 25612912 Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DCX |
Ellen McDonagh gene: DCX was added gene: DCX was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DCX were set to Lissencephaly, X-Linked, 1; Subcortical laminal heteropia, X-linked, 300067; Cerebral Malformation Disorders; Lissencephaly, X-linked, 300067; Classic Lissencephaly/Subcortical Band Heterotopia |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ARX |
Ellen McDonagh gene: ARX was added gene: ARX was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ARX were set to 300215; Cerebral Malformation Disorders; Lissencephaly, X-linked 2 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | AP1S2 |
Ellen McDonagh gene: AP1S2 was added gene: AP1S2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AP1S2 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: AP1S2 were set to 17617514; 1842820 Phenotypes for gene: AP1S2 were set to Calcifications in basal ganglia |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PLP1 |
Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 25655951 Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked 312920 Edit; Pelizaeus-Merzbacher disease 312080 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | OCRL |
Ellen McDonagh gene: OCRL was added gene: OCRL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, MIM#309000 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | BCAP31 |
Ellen McDonagh gene: BCAP31 was added gene: BCAP31 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ATP7A |
Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 28495946; 28495940 Phenotypes for gene: ATP7A were set to Menkes disease, MIM#309400 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ABCD1 |
Ellen McDonagh gene: ABCD1 was added gene: ABCD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ABCD1 were set to 8040304; 11810273; 25655951 Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, X-linked; Adrenoleukodystrophy; Adrenoleukodystrophy, 300100; X-Linked Adrenoleukodystrophy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ADGRG1 |
Ellen McDonagh gene: ADGRG1 was added gene: ADGRG1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ADGRG1 was set to Unknown Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders |
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White matter disorders and cerebral calcification - narrow panel v0.11 | XPR1 |
Ellen McDonagh gene: XPR1 was added gene: XPR1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: XPR1 were set to 27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction; 25938945 Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, 616413; Basal ganglia calcification (Fahr syndrome) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TMEM106B |
Ellen McDonagh gene: TMEM106B was added gene: TMEM106B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM106B were set to 29186371, 29444210 Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SCN2A |
Ellen McDonagh gene: SCN2A was added gene: SCN2A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to PMID:24579881 Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RAB11B |
Ellen McDonagh gene: RAB11B was added gene: RAB11B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB11B were set to 29106825 Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | IFIH1 |
Ellen McDonagh Added phenotypes Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 7, 615846 for gene: IFIH1 Publications for gene IFIH1 were changed from to 24995871; 24686847; 25604658 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | IFIH1 |
Ellen McDonagh gene: IFIH1 was added gene: IFIH1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 7 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | COL4A1 | Ellen McDonagh Publications for gene COL4A1 were changed from 22134833 to MIM#607595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | COL4A1 |
Ellen McDonagh gene: COL4A1 was added gene: COL4A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 22134833 Phenotypes for gene: COL4A1 were set to Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification; Porencephaly 1 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TUBB4A |
Ellen McDonagh gene: TUBB4A was added gene: TUBB4A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 25655951 Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukodystrophy, hypomyelinating 6; Dystonia 4, torsion, autosomal dominant, 128101 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TUBA1A |
Ellen McDonagh gene: TUBA1A was added gene: TUBA1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBA1A were set to Lissencephaly 3; Lissencephaly, Dominant; Cerebral Malformation Disorders; Lissencephaly 3, 611603 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SOX10 |
Ellen McDonagh gene: SOX10 was added gene: SOX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 25655951 Phenotypes for gene: SOX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SLC20A2 |
Ellen McDonagh gene: SLC20A2 was added gene: SLC20A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC20A2 were set to 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification; 26129893; 27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes Phenotypes for gene: SLC20A2 were set to Fahr syndrome; Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PDGFRB |
Ellen McDonagh gene: PDGFRB was added gene: PDGFRB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893 Phenotypes for gene: PDGFRB were set to Fahr syndrome; Calcifications in basal ganglia; Basal ganglia calcification idiopathic 4, 615007 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PDGFB |
Ellen McDonagh gene: PDGFB was added gene: PDGFB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFB were set to 26129893; 25211641; 27227165 - c.3G>C variant identified in 5 affected members of a family Phenotypes for gene: PDGFB were set to Fahr syndrome; Basal ganglia calcification, idiopathic, 5, 615483 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PAFAH1B1 |
Ellen McDonagh gene: PAFAH1B1 was added gene: PAFAH1B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAFAH1B1 were set to Lissencephaly 1; Cerebral Malformation Disorders; Lissencephaly/Subcortical Band Heterotopia |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MEF2C |
Ellen McDonagh gene: MEF2C was added gene: MEF2C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEF2C were set to Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations |
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White matter disorders and cerebral calcification - narrow panel v0.11 | LMNB1 |
Ellen McDonagh gene: LMNB1 was added gene: LMNB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB1 were set to 21225301; 25655951; 21909802 Phenotypes for gene: LMNB1 were set to Leukodystrophy,adult-onset, autosomal dominant,169500; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Adult onset autosomal dominant leukodystrophy (ADLD) Mode of pathogenicity for gene: LMNB1 was set to Other - please provide details in the comments |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GFAP |
Ellen McDonagh gene: GFAP was added gene: GFAP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 25655951 Phenotypes for gene: GFAP were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CSF1R |
Ellen McDonagh gene: CSF1R was added gene: CSF1R was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605 Phenotypes for gene: CSF1R were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CIC |
Ellen McDonagh gene: CIC was added gene: CIC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CIC were set to 28288114; 24896178; 21076407 Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TREX1 |
Ellen McDonagh gene: TREX1 was added gene: TREX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 25604658 Phenotypes for gene: TREX1 were set to Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome 1, dominant and recessive |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SPG7 |
Ellen McDonagh gene: SPG7 was added gene: SPG7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 22571692, 17646629 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM#607259 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MPZ |
Ellen McDonagh gene: MPZ was added gene: MPZ was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MPZ were set to Neuropathy,congenital hypomyelinating,605253; Congenital Hypomyelination |
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White matter disorders and cerebral calcification - narrow panel v0.11 | HEPACAM |
Ellen McDonagh gene: HEPACAM was added gene: HEPACAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HEPACAM were set to 25655951 Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GJA1 |
Ellen McDonagh gene: GJA1 was added gene: GJA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, autosomal recessive 257850; Oculodentodigital dysplasia (AD) 164200 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ADAR |
Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy for gene: ADAR Publications for gene ADAR were changed from 23001123; 25604658 to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_584 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 23001123; 25604658 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 6 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ZFYVE26 |
Ellen McDonagh gene: ZFYVE26 was added gene: ZFYVE26 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM#270700 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | XPC |
Ellen McDonagh gene: XPC was added gene: XPC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPC were set to 27413738 Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | XPA |
Ellen McDonagh gene: XPA was added gene: XPA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 27603812; 27413738; 26302748; 26743599 Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | VPS11 |
Ellen McDonagh gene: VPS11 was added gene: VPS11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to 26307567, 27120463 Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | USP18 |
Ellen McDonagh gene: USP18 was added gene: USP18 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to PMID: 27325888 Phenotypes for gene: USP18 were set to pseudo-TORCH syndrome |
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White matter disorders and cerebral calcification - narrow panel v0.11 | UNC13D |
Ellen McDonagh gene: UNC13D was added gene: UNC13D was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to 29312353 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TYROBP |
Ellen McDonagh gene: TYROBP was added gene: TYROBP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYROBP were set to Nasu-Hakola disease, MIM#221770 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TYMP |
Ellen McDonagh gene: TYMP was added gene: TYMP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 25655951 Phenotypes for gene: TYMP were set to Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TWNK |
Ellen McDonagh gene: TWNK was added gene: TWNK was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TWNK were set to 25655951 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TUFM |
Ellen McDonagh gene: TUFM was added gene: TUFM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFM were set to 25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.; 25655951; 17160893 (case report) Phenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TREM2 | Ellen McDonagh Added phenotypes POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY for gene: TREM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | TREM2 |
Ellen McDonagh gene: TREM2 was added gene: TREM2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TREM2 were set to 12080485; 15883308 Phenotypes for gene: TREM2 were set to Calcifications in basal ganglia; Nasu-Hakola disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | TACO1 |
Ellen McDonagh gene: TACO1 was added gene: TACO1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency; 25655951; 20727754 and 19503089 (same patients) Phenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SURF1 |
Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SURF1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_560 Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SUMF1 |
Ellen McDonagh gene: SUMF1 was added gene: SUMF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_628 Phenotypes for gene: SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Multiple sulfatase deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SUCLA2 |
Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_575 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SPG11 |
Ellen McDonagh gene: SPG11 was added gene: SPG11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 14745065 Phenotypes for gene: SPG11 were set to Spastic paralplegia 11, autosomal recessive, MIM#604360 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SPART |
Ellen McDonagh gene: SPART was added gene: SPART was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148 Phenotypes for gene: SPART were set to Troyer syndrome, MIM#275900 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SNORD118 | Ellen McDonagh Added phenotypes 614561 for gene: SNORD118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | SNORD118 |
Ellen McDonagh gene: SNORD118 was added gene: SNORD118 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 28177126; 27571260 Phenotypes for gene: SNORD118 were set to 614561 Mode of pathogenicity for gene: SNORD118 was set to Other - please provide details in the comments |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SLC25A4 |
Ellen McDonagh gene: SLC25A4 was added gene: SLC25A4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233 Phenotypes for gene: SLC25A4 were set to Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SLC25A1 |
Ellen McDonagh gene: SLC25A1 was added gene: SLC25A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Global Cerebral Hypomyelination |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SLC17A5 |
Ellen McDonagh gene: SLC17A5 was added gene: SLC17A5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_634 Phenotypes for gene: SLC17A5 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SLC13A5 |
Ellen McDonagh gene: SLC13A5 was added gene: SLC13A5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 27913086 Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SDHB |
Ellen McDonagh gene: SDHB was added gene: SDHB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHB were set to 26642834 - multiple cases reported; 25655951; 26925370 - suggests incomplete penetrance; 22972948 Phenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; complex II deficiency; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SDHAF1 |
Ellen McDonagh gene: SDHAF1 was added gene: SDHAF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 25655951; 22995659; 19465911 Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SDHA |
Ellen McDonagh gene: SDHA was added gene: SDHA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 22972948 Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SAMHD1 |
Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome for gene: SAMHD1 Publications for gene SAMHD1 were changed from 25655951 to 25604658 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | SAMHD1 |
Ellen McDonagh gene: SAMHD1 was added gene: SAMHD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 25655951 Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2C |
Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 3 for gene: RNASEH2C Publications for gene RNASEH2C were changed from 27411419; 25655951 to 25604658 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2C |
Ellen McDonagh gene: RNASEH2C was added gene: RNASEH2C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 27411419; 25655951 Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres Syndrome 3; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2B |
Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 2 for gene: RNASEH2B Publications for gene RNASEH2B were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 to 25604658 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2A |
Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome 4; Aicardi-Goutieres Syndrome for gene: RNASEH2A Publications for gene RNASEH2A were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585 to 25604658 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2A |
Ellen McDonagh gene: RNASEH2A was added gene: RNASEH2A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585 Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RELN |
Ellen McDonagh gene: RELN was added gene: RELN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to Lissencephaly, Recessive; Lissencephaly 2; Lissencephaly 2 (Norman-Roberts type), 257320 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RARS |
Ellen McDonagh gene: RARS was added gene: RARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 24777941; 27564080 Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PYCR2 |
Ellen McDonagh gene: PYCR2 was added gene: PYCR2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PRF1 |
Ellen McDonagh gene: PRF1 was added gene: PRF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 23443029 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PPT1 |
Ellen McDonagh gene: PPT1 was added gene: PPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, MIM#256730 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLR3B |
Ellen McDonagh gene: POLR3B was added gene: POLR3B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3B were set to 25655951 Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Pol III-Related Leukodystrophy; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLR1A |
Ellen McDonagh gene: POLR1A was added gene: POLR1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1A were set to 28051070 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | POLH |
Ellen McDonagh gene: POLH was added gene: POLH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 23755135; 23651273; 24260050; 27004399; 25256075; 27664908; 24877075; 24130121; 25128761 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PHGDH |
Ellen McDonagh gene: PHGDH was added gene: PHGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM#601815 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX6 |
Ellen McDonagh gene: PEX6 was added gene: PEX6 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 25655951 Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX3 |
Ellen McDonagh gene: PEX3 was added gene: PEX3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX3 were set to 23245813; 10968777; 25655951 Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX26 |
Ellen McDonagh gene: PEX26 was added gene: PEX26 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX26 were set to 25655951 Phenotypes for gene: PEX26 were set to Peroxisome-Associated Disorders & Zellweger Syndrome |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX16 |
Ellen McDonagh gene: PEX16 was added gene: PEX16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 15146459 Phenotypes for gene: PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX13 |
Ellen McDonagh gene: PEX13 was added gene: PEX13 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 25655951 Phenotypes for gene: PEX13 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX12 |
Ellen McDonagh gene: PEX12 was added gene: PEX12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 25655951 Phenotypes for gene: PEX12 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 3A (Zellweger); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 3B; Peroxisome biogenesis disorder 3A,B |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 25655951 Phenotypes for gene: PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX1 |
Ellen McDonagh gene: PEX1 was added gene: PEX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 25655951 Phenotypes for gene: PEX1 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 1A,B; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A (Zellweger) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PCDH12 |
Ellen McDonagh gene: PCDH12 was added gene: PCDH12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities |
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White matter disorders and cerebral calcification - narrow panel v0.11 | OCLN |
Ellen McDonagh gene: OCLN was added gene: OCLN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 24668585; 26689621; 23793442; 20727516 Phenotypes for gene: OCLN were set to Severe developmental delay with microcephaly; Band-like calcification with simplified gyration and polymicrogyria; Band-like calcification with simplified gyration and polymicrogyria, 251290 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NUBPL |
Ellen McDonagh gene: NUBPL was added gene: NUBPL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFV1 |
Ellen McDonagh gene: NDUFV1 was added gene: NDUFV1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV1 were set to 26345448; 26758110; 27344648; 25655951 Phenotypes for gene: NDUFV1 were set to Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFS8 |
Ellen McDonagh gene: NDUFS8 was added gene: NDUFS8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS8 were set to 25655951 Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I disorders; Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFS7 |
Ellen McDonagh gene: NDUFS7 was added gene: NDUFS7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS7 were set to 25655951 Phenotypes for gene: NDUFS7 were set to Genetic leukoencephalopathies: mitochondrial disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leigh syndrome; Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFS4 |
Ellen McDonagh gene: NDUFS4 was added gene: NDUFS4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS4 were set to 25655951 Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFS2 |
Ellen McDonagh gene: NDUFS2 was added gene: NDUFS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS2 were set to 20819849; 11220739; 25655951; 22036843; 23266820 Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome associated with mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy; Leigh syndrome |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFS1 |
Ellen McDonagh gene: NDUFS1 was added gene: NDUFS1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS1 were set to 25655951 Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFAF1 |
Ellen McDonagh gene: NDUFAF1 was added gene: NDUFAF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 21931170; 16218961; 17557076; 25655951; 24963768 Phenotypes for gene: NDUFAF1 were set to Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDUFA2 |
Ellen McDonagh gene: NDUFA2 was added gene: NDUFA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA2 were set to 28857146 Phenotypes for gene: NDUFA2 were set to Mitochondrial leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NDE1 |
Ellen McDonagh gene: NDE1 was added gene: NDE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019; Lissencephaly, Recessive; Cerebral Malformation Disorders |
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White matter disorders and cerebral calcification - narrow panel v0.11 | NAXE |
Ellen McDonagh gene: NAXE was added gene: NAXE was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27616477, 27122014 Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MTFMT |
Ellen McDonagh gene: MTFMT was added gene: MTFMT was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 21907147; 24461907; 27564080 Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 614947; 23499752 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MRPS16 |
Ellen McDonagh gene: MRPS16 was added gene: MRPS16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 18539099; 15505824; 25655951 Phenotypes for gene: MRPS16 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 2; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MRE11 |
Ellen McDonagh gene: MRE11 was added gene: MRE11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRE11 were set to 21227757 Phenotypes for gene: MRE11 were set to Nijmegen breakage syndrome-like severe microcephaly |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MPLKIP |
Ellen McDonagh Added phenotypes Trichothiodystrophy, nonphotosensitive for gene: MPLKIP Publications for gene MPLKIP were changed from to 25655951 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MPLKIP |
Ellen McDonagh gene: MPLKIP was added gene: MPLKIP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Non-photosensitive trichothiodystrophy 4 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MLC1 |
Ellen McDonagh gene: MLC1 was added gene: MLC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 25655951 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | MFF |
Ellen McDonagh gene: MFF was added gene: MFF was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | LYRM7 |
Ellen McDonagh gene: LYRM7 was added gene: LYRM7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYRM7 were set to 27151179; 27564080 Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; 615838; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle |
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White matter disorders and cerebral calcification - narrow panel v0.11 | LAMB1 |
Ellen McDonagh gene: LAMB1 was added gene: LAMB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB1 were set to 25925986; 17525174; 23472759 Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | L2HGDH |
Ellen McDonagh gene: L2HGDH was added gene: L2HGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 25655951 Phenotypes for gene: L2HGDH were set to L2-Hydroxyglutaric aciduria |
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White matter disorders and cerebral calcification - narrow panel v0.11 | JAM3 | Ellen McDonagh Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | JAM3 |
Ellen McDonagh gene: JAM3 was added gene: JAM3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ISCA2 |
Ellen McDonagh gene: ISCA2 was added gene: ISCA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 25558065; 22323289; 25539947; 27564080 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | IBA57 |
Ellen McDonagh gene: IBA57 was added gene: IBA57 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 28913435; 23462291; 25971455; 27785568; 28671726 Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | HSD17B4 |
Ellen McDonagh gene: HSD17B4 was added gene: HSD17B4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 25655951 Phenotypes for gene: HSD17B4 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; D-bifunctional protein deficiency |
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White matter disorders and cerebral calcification - narrow panel v0.11 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMBS were set to 27558376, 27271711 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | HEXA |
Ellen McDonagh gene: HEXA was added gene: HEXA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to MIM#272800 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GTF2H5 |
Ellen McDonagh gene: GTF2H5 was added gene: GTF2H5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GTF2E2 |
Ellen McDonagh gene: GTF2E2 was added gene: GTF2E2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; 616943 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GJC2 |
Ellen McDonagh gene: GJC2 was added gene: GJC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 25655951 Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive, 613206; Leukodystrophy, hypomyelinating, 2, 608804; Lymphedema, hereditary, IC, 613480 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GFM1 |
Ellen McDonagh gene: GFM1 was added gene: GFM1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFM1 were set to 25655951 Phenotypes for gene: GFM1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 25655951 Phenotypes for gene: GBE1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | FUCA1 |
Ellen McDonagh gene: FUCA1 was added gene: FUCA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUCA1 were set to 25655951 Phenotypes for gene: FUCA1 were set to Fucosidosis; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | FLVCR2 |
Ellen McDonagh gene: FLVCR2 was added gene: FLVCR2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | FAM126A |
Ellen McDonagh gene: FAM126A was added gene: FAM126A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 25655951 Phenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to MIM#612319 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 25655951 Phenotypes for gene: ETFDH were set to Glutaric Acidemia IIC; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC8 |
Ellen McDonagh Added phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne Syndrome; UV-sensitive syndrome for gene: ERCC8 Publications for gene ERCC8 were changed from 26204423 to 25655951 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC8 |
Ellen McDonagh gene: ERCC8 was added gene: ERCC8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 26204423 Phenotypes for gene: ERCC8 were set to Cockayne syndrome phenotype and UV-sensitive syndrome; PMID: 26204423; Cockayne syndrome, type A Mode of pathogenicity for gene: ERCC8 was set to Other - please provide details in the comments |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC6 |
Ellen McDonagh Added phenotypes Intercranial Calcifications for gene: ERCC6 Publications for gene ERCC6 were changed from 26204423; 26749132 to PMID: 7063265 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC6 |
Ellen McDonagh Mode of pathogenicity for gene ERCC6 was changed from to Other - please provide details in the comments Added phenotypes De Sanctis-Cacchione syndrome; PMID: 26204423; Cockayne syndrome phenotype and UV-sensitive syndrome; Cockayne syndrome B; UV-sensitive syndrome 1; Cockayne syndrome, type B for gene: ERCC6 Publications for gene ERCC6 were changed from 25655951 to 26204423; 26749132 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6 were set to 25655951 Phenotypes for gene: ERCC6 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne syndrome; UV-sensitive syndrome |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC5 |
Ellen McDonagh gene: ERCC5 was added gene: ERCC5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC4 |
Ellen McDonagh gene: ERCC4 was added gene: ERCC4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, type F/Cockayne syndrome, 278760; Xeroderma pigmentosum, group F, 278760 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC3 |
Ellen McDonagh gene: ERCC3 was added gene: ERCC3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum, group B, 610651; Trichothiodystrophy, 601675 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC2 | Ellen McDonagh Publications for gene ERCC2 were changed from to MIM#601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC2 |
Ellen McDonagh gene: ERCC2 was added gene: ERCC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ERCC1 |
Ellen McDonagh gene: ERCC1 was added gene: ERCC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure; 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosum |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EIF2B5 |
Ellen McDonagh gene: EIF2B5 was added gene: EIF2B5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B5 were set to 12325082; 25655951; 11704758 Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896; Ovarioleukodystrophy, 603896; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EIF2B4 |
Ellen McDonagh gene: EIF2B4 was added gene: EIF2B4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B4 were set to 11835386; 25089094; 25655951; 12707859; 26043506 Phenotypes for gene: EIF2B4 were set to Ovarioleukodystrophy, 603896; Leukoencephaly with vanishing white matter, 603896 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EIF2B3 |
Ellen McDonagh gene: EIF2B3 was added gene: EIF2B3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B3 were set to 11835386; 25655951; 19158808 Phenotypes for gene: EIF2B3 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with vanishing white matter 603896; eIF2B related disorder (Vanishing WM Disease or CACH) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EIF2B2 |
Ellen McDonagh gene: EIF2B2 was added gene: EIF2B2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 25655951 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood Ataxia with Central Nervous System Hypomyelination; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH); Ovarioleukodystrophy, 603896 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EIF2B1 |
Ellen McDonagh gene: EIF2B1 was added gene: EIF2B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B1 were set to 16807905; 25655951; 15776425 Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood Ataxia with Central Nervous System Hypomyelination; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | EARS2 |
Ellen McDonagh gene: EARS2 was added gene: EARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 25655951 Phenotypes for gene: EARS2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL); Combined oxidative phosphorylation deficiency 12 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DGUOK |
Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 25655951 Phenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DDB2 |
Ellen McDonagh gene: DDB2 was added gene: DDB2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | DARS2 |
Ellen McDonagh gene: DARS2 was added gene: DARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 25655951 Phenotypes for gene: DARS2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | D2HGDH |
Ellen McDonagh gene: D2HGDH was added gene: D2HGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 25655951 Phenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CYP7B1 |
Ellen McDonagh gene: CYP7B1 was added gene: CYP7B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to MIM#270800 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CYP2U1 |
Ellen McDonagh gene: CYP2U1 was added gene: CYP2U1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 25655951 Phenotypes for gene: CYP27A1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CTC1 |
Ellen McDonagh gene: CTC1 was added gene: CTC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22387016; 22267198 Phenotypes for gene: CTC1 were set to Coats Plus syndrome; Cerebroretinal microangiopathy with calcifications and cysts, 612199 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | COX15 |
Ellen McDonagh gene: COX15 was added gene: COX15 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX15 were set to 25655951 Phenotypes for gene: COX15 were set to Mitochondrial complex IV disorders; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | COX10 |
Ellen McDonagh gene: COX10 was added gene: COX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 24100867; 25655951; 12928484 Phenotypes for gene: COX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder |
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White matter disorders and cerebral calcification - narrow panel v0.11 | COQ9 |
Ellen McDonagh gene: COQ9 was added gene: COQ9 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ9 were set to 25655951; 19375058 Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | COQ8A |
Ellen McDonagh gene: COQ8A was added gene: COQ8A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 25655951 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | COQ2 |
Ellen McDonagh gene: COQ2 was added gene: COQ2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 25655951 Phenotypes for gene: COQ2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CNTNAP1 |
Ellen McDonagh gene: CNTNAP1 was added gene: CNTNAP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 29882456 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | CLCN2 |
Ellen McDonagh gene: CLCN2 was added gene: CLCN2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 25655951 Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema |
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White matter disorders and cerebral calcification - narrow panel v0.11 | BOLA3 |
Ellen McDonagh gene: BOLA3 was added gene: BOLA3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | BCS1L |
Ellen McDonagh gene: BCS1L was added gene: BCS1L was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 25655951 Phenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ATPAF2 |
Ellen McDonagh gene: ATPAF2 was added gene: ATPAF2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 25655951; 14757859; 21815885 (no variants identified) Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ASPA |
Ellen McDonagh gene: ASPA was added gene: ASPA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 25655951 Phenotypes for gene: ASPA were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ALDH3A2 |
Ellen McDonagh gene: ALDH3A2 was added gene: ALDH3A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 25655951 Phenotypes for gene: ALDH3A2 were set to Sjogren Larsson syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ACP5 |
Ellen McDonagh gene: ACP5 was added gene: ACP5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217752; 21217755; 26951490 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia; Spondyloenchondrodysplasia with immune dysregulation |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ACOX1 |
Ellen McDonagh gene: ACOX1 was added gene: ACOX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648; 17458872; 25655951; 11815777 Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | ACBD5 |
Ellen McDonagh gene: ACBD5 was added gene: ACBD5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | AARS2 |
Ellen McDonagh gene: AARS2 was added gene: AARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 24808023; 27251004; 25655951; 25705216 Phenotypes for gene: AARS2 were set to Leukoencephalopathy with ovarian failure; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX5 |
Ellen McDonagh gene: PEX5 was added gene: PEX5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 27290639; 26220973 Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RRM2B |
Ellen McDonagh gene: RRM2B was added gene: RRM2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 25655951 Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX2 |
Ellen McDonagh gene: PEX2 was added gene: PEX2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 25655951 Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) |
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White matter disorders and cerebral calcification - narrow panel v0.9 | Louise Daugherty Panel types changed to GMS Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.7 | Ellen McDonagh Panel types changed to | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.5 | Ellen McDonagh Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.4 |
Ellen McDonagh Changed child panels to: Panel types changed to GMS Rare Disease Virtual |
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White matter disorders and cerebral calcification - narrow panel v0.2 | Ellen McDonagh Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.1 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.0 |
Ellen McDonagh Added Panel White matter disorders and cerebral calcification - narrow panel Set panel types to: GMS Rare Disease Virtual |