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Intracerebral calcification disorders v1.27 TINF2 Arina Puzriakova Phenotypes for gene: TINF2 were changed from Revesz syndrome, MIM# 268130 to Revesz syndrome, 268130
Intracerebral calcification disorders v1.26 TINF2 Arina Puzriakova Tag for-review was removed from gene: TINF2.
Intracerebral calcification disorders v1.26 TINF2 Arina Puzriakova Classified gene: TINF2 as Green List (high evidence)
Intracerebral calcification disorders v1.26 TINF2 Arina Puzriakova Gene: tinf2 has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.25 TINF2 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.

Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green on this panel - intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.
Intracerebral calcification disorders v1.25 FARSB Arina Puzriakova Tag for-review was removed from gene: FARSB.
Intracerebral calcification disorders v1.25 FARSB Arina Puzriakova Classified gene: FARSB as Green List (high evidence)
Intracerebral calcification disorders v1.25 FARSB Arina Puzriakova Gene: farsb has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.24 FARSB Arina Puzriakova changed review comment from: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update.; to: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green.
Intracerebral calcification disorders v1.24 FARSB Arina Puzriakova Classified gene: FARSB as Amber List (moderate evidence)
Intracerebral calcification disorders v1.24 FARSB Arina Puzriakova Added comment: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update.
Intracerebral calcification disorders v1.24 FARSB Arina Puzriakova Gene: farsb has been classified as Amber List (Moderate Evidence).
Intracerebral calcification disorders v1.23 FARSB Arina Puzriakova Tag for-review tag was added to gene: FARSB.
Intracerebral calcification disorders v1.23 FARSB Arina Puzriakova Deleted their comment
Intracerebral calcification disorders v1.23 TINF2 Arina Puzriakova changed review comment from: Comment on list classification: Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.

Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.
Intracerebral calcification disorders v1.23 TINF2 Arina Puzriakova Classified gene: TINF2 as Amber List (moderate evidence)
Intracerebral calcification disorders v1.23 TINF2 Arina Puzriakova Added comment: Comment on list classification: Intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.
Intracerebral calcification disorders v1.23 TINF2 Arina Puzriakova Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Intracerebral calcification disorders v1.22 TINF2 Arina Puzriakova Tag for-review tag was added to gene: TINF2.
Intracerebral calcification disorders v1.22 TINF2 Arina Puzriakova Added comment: Comment on publications: Added publications to support association with this phenotype.
Intracerebral calcification disorders v1.22 TINF2 Arina Puzriakova Publications for gene: TINF2 were set to 21477109; 18252230
Intracerebral calcification disorders v1.21 NRROS Sarah Leigh Classified gene: NRROS as Green List (high evidence)
Intracerebral calcification disorders v1.21 NRROS Sarah Leigh Added comment: Comment on list classification: sufficient evidence for this gene to be green.
Intracerebral calcification disorders v1.21 NRROS Sarah Leigh Gene: nrros has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.20 NRROS Sarah Leigh gene: NRROS was added
gene: NRROS was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099; 32197075; 28459434
Phenotypes for gene: NRROS were set to Seizures, early-onset, with neurodegeneration and brain calcification 618875
Review for gene: NRROS was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification. At least 6 variants reported in at least 5 unrelated cases (PMIDs 32100099;32197075), together with supportive mouse model (PMID 28459434).
Sources: Literature
Intracerebral calcification disorders v1.19 FARSB Arina Puzriakova Classified gene: FARSB as Green List (high evidence)
Intracerebral calcification disorders v1.19 FARSB Arina Puzriakova Added comment: Comment on list classification: Rating Green following consultation with the clinical team - sufficient number of cases with the relevant phenotype.
Intracerebral calcification disorders v1.19 FARSB Arina Puzriakova Gene: farsb has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.18 FARSB Arina Puzriakova reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 29979980, 30014610; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intracerebral calcification disorders v1.18 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Intracerebral calcification disorders. Sources: Expert list
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TINF2 were set to 21477109; 18252230
Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130
Review for gene: TINF2 was set to GREEN
gene: TINF2 was marked as current diagnostic
Added comment: Brain calcifications are part of the phenotype.
Sources: Expert list
Intracerebral calcification disorders v1.18 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Intracerebral calcification disorders. Sources: Expert list
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYROBP were set to 30242731
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
Review for gene: TYROBP was set to GREEN
Added comment: Brain calcifications are part of the phenotype.
Sources: Expert list
Intracerebral calcification disorders v1.18 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Intracerebral calcification disorders. Sources: Expert list
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to 19525954
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951
Review for gene: RNASET2 was set to GREEN
gene: RNASET2 was marked as current diagnostic
Added comment: Intracranial calcification is a feature of this condition.
Sources: Expert list
Intracerebral calcification disorders v1.18 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Intracerebral calcification disorders. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
gene: FARSB was marked as current diagnostic
Added comment: 7 unrelated families reported.
Sources: Expert list
Intracerebral calcification disorders v1.18 JAM2 Zornitza Stark edited their review of gene: JAM2: Set current diagnostic: yes
Intracerebral calcification disorders v1.18 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Review for gene: JAM2 was set to GREEN
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Intracerebral calcification disorders v1.18 Ellen McDonagh Panel types changed to Rare Disease 100K
Intracerebral calcification disorders v1.17 KIAA1161 Louise Daugherty Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222
Intracerebral calcification disorders v1.15 KIAA1161 Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence)
Intracerebral calcification disorders v1.15 KIAA1161 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Intracerebral calcification disorders v1.15 KIAA1161 Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.14 KIAA1161 Louise Daugherty Added comment: Comment on publications: added further publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: ;30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7.
Intracerebral calcification disorders v1.14 KIAA1161 Louise Daugherty Publications for gene: KIAA1161 were set to 29910000; 30589467
Intracerebral calcification disorders v1.13 KIAA1161 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype
Intracerebral calcification disorders v1.13 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Primary Familial Brain Calcification to Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Intracerebral calcification disorders v1.12 KIAA1161 Louise Daugherty Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467
Intracerebral calcification disorders v1.11 KIAA1161 Louise Daugherty commented on gene: KIAA1161
Intracerebral calcification disorders v1.11 KIAA1161 Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161.
Intracerebral calcification disorders v1.11 KIAA1161 Raquel Real gene: KIAA1161 was added
gene: KIAA1161 was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467
Phenotypes for gene: KIAA1161 were set to Primary Familial Brain Calcification
Penetrance for gene: KIAA1161 were set to unknown
Review for gene: KIAA1161 was set to GREEN
Added comment: Yao et al (2018) identified 9 biallelic mutations in MYORG in 6 families with autosomal recessive Primary Familial Brain Calcification (PFBC) that co-segregated completely with the disease. MYORG mutations accounted for 46% of PFBC families with recessive mode of inheritance. No mutations were found in 1000 healthy controls. In a KO mouse model, brain calcium phosphate deposits could be observed. In a more recent study, Chen et al (2018) also identified 4 biallelic mutations segregating in 4 autosomal recessive PFBC families.
Sources: Literature
Intracerebral calcification disorders v1.11 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Intracerebral calcification disorders v1.10 SCN2A Anna de Burca gene: SCN2A was added
gene: SCN2A was added to Intracerebral calcification disorders. Sources: Literature
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
Review for gene: SCN2A was set to RED
Added comment: Variants in SCN2A are associated with a range of phenotypes from benign infantile seizures to early infantile epileptic encephalopathy. Intracerebral calcification has been noted in one case in the literature (PMID:24579881) and I have encountered a second case in my clinical practice.
Sources: Literature
Intracerebral calcification disorders PCDH12 Ellen McDonagh Added gene to panel
Intracerebral calcification disorders SNORD118 Ellen McDonagh commented on SNORD118
Intracerebral calcification disorders SNORD118 Richard Scott added SNORD118 to panel
Intracerebral calcification disorders SNORD118 Richard Scott reviewed SNORD118
Intracerebral calcification disorders Ellen McDonagh promoted panel to version 1
Intracerebral calcification disorders USP18 Ellen Thomas marked USP18 as ready
Intracerebral calcification disorders USP18 Ellen Thomas classified USP18 as green
Intracerebral calcification disorders USP18 Ellen Thomas added USP18 to panel
Intracerebral calcification disorders USP18 Ellen Thomas reviewed USP18
Intracerebral calcification disorders TREM2 Ellen Thomas marked TREM2 as ready
Intracerebral calcification disorders TREM2 Ellen Thomas classified TREM2 as green
Intracerebral calcification disorders SLC20A2 Ellen Thomas marked SLC20A2 as ready
Intracerebral calcification disorders SLC20A2 Ellen Thomas classified SLC20A2 as green
Intracerebral calcification disorders SLC20A2 Ellen Thomas commented on SLC20A2
Intracerebral calcification disorders ERCC6 Ellen Thomas classified ERCC6 as red
Intracerebral calcification disorders ERCC6 Ellen Thomas commented on ERCC6
Intracerebral calcification disorders JAM3 Ellen Thomas marked JAM3 as ready
Intracerebral calcification disorders JAM3 Ellen Thomas classified JAM3 as green
Intracerebral calcification disorders CYP2U1 Ellen Thomas marked CYP2U1 as ready
Intracerebral calcification disorders CYP2U1 Ellen Thomas commented on CYP2U1
Intracerebral calcification disorders CYP2U1 Ellen Thomas classified CYP2U1 as green
Intracerebral calcification disorders AP1S2 Ellen Thomas marked AP1S2 as ready
Intracerebral calcification disorders AP1S2 Ellen Thomas classified AP1S2 as green
Intracerebral calcification disorders AP1S2 Ellen Thomas commented on AP1S2
Intracerebral calcification disorders XPR1 Ellen McDonagh marked XPR1 as ready
Intracerebral calcification disorders XPR1 Ellen McDonagh classified XPR1 as green
Intracerebral calcification disorders XPR1 Ellen McDonagh commented on XPR1
Intracerebral calcification disorders JAM3 Ellen McDonagh classified JAM3 as amber
Intracerebral calcification disorders TREM2 Ellen McDonagh classified TREM2 as amber
Intracerebral calcification disorders TREM2 Ellen McDonagh classified TREM2 as red
Intracerebral calcification disorders TREM2 Ellen McDonagh commented on TREM2
Intracerebral calcification disorders OCLN Ellen McDonagh marked OCLN as ready
Intracerebral calcification disorders OCLN Ellen McDonagh edited their review of OCLN
Intracerebral calcification disorders OCLN Ellen McDonagh classified OCLN as green
Intracerebral calcification disorders OCLN Ellen McDonagh commented on OCLN
Intracerebral calcification disorders MAT1A Ellen McDonagh classified MAT1A as red
Intracerebral calcification disorders MAT1A Ellen McDonagh commented on MAT1A
Intracerebral calcification disorders JAM3 Ellen McDonagh classified JAM3 as red
Intracerebral calcification disorders JAM3 Ellen McDonagh commented on JAM3
Intracerebral calcification disorders IFIH1 Ellen McDonagh marked IFIH1 as ready
Intracerebral calcification disorders IFIH1 Ellen McDonagh classified IFIH1 as green
Intracerebral calcification disorders ERCC6 Ellen McDonagh classified ERCC6 as amber
Intracerebral calcification disorders ERCC6 Ellen McDonagh commented on ERCC6
Intracerebral calcification disorders CYP2U1 Ellen McDonagh classified CYP2U1 as amber
Intracerebral calcification disorders CYP2U1 Ellen McDonagh classified CYP2U1 as red
Intracerebral calcification disorders CYP2U1 Ellen McDonagh commented on CYP2U1
Intracerebral calcification disorders CTC1 Ellen McDonagh classified CTC1 as green
Intracerebral calcification disorders CTC1 Ellen McDonagh marked CTC1 as ready
Intracerebral calcification disorders CTC1 Ellen McDonagh classified CTC1 as red
Intracerebral calcification disorders CTC1 Ellen McDonagh commented on CTC1
Intracerebral calcification disorders COL4A1 Ellen McDonagh marked COL4A1 as ready
Intracerebral calcification disorders COL4A1 Ellen McDonagh classified COL4A1 as green
Intracerebral calcification disorders COL4A1 Ellen McDonagh classified COL4A1 as amber
Intracerebral calcification disorders COL4A1 Ellen McDonagh commented on COL4A1
Intracerebral calcification disorders AP1S2 Ellen McDonagh commented on AP1S2
Intracerebral calcification disorders AP1S2 Ellen McDonagh classified AP1S2 as amber
Intracerebral calcification disorders ADAR Ellen McDonagh marked ADAR as ready
Intracerebral calcification disorders ADAR Ellen McDonagh classified ADAR as green
Intracerebral calcification disorders ADAR Ellen McDonagh classified ADAR as red
Intracerebral calcification disorders ADAR Ellen McDonagh commented on ADAR
Intracerebral calcification disorders ACP5 Ellen McDonagh marked ACP5 as ready
Intracerebral calcification disorders ACP5 Ellen McDonagh classified ACP5 as green
Intracerebral calcification disorders ACP5 Ellen McDonagh commented on ACP5
Intracerebral calcification disorders TREX1 Ellen McDonagh marked TREX1 as ready
Intracerebral calcification disorders TREX1 Ellen McDonagh classified TREX1 as green
Intracerebral calcification disorders PDGFRB Ellen McDonagh marked PDGFRB as ready
Intracerebral calcification disorders PDGFRB Ellen McDonagh classified PDGFRB as green
Intracerebral calcification disorders PDGFB Ellen McDonagh marked PDGFB as ready
Intracerebral calcification disorders PDGFB Ellen McDonagh classified PDGFB as green
Intracerebral calcification disorders PDGFB Ellen McDonagh commented on PDGFB
Intracerebral calcification disorders PDGFRB Ellen McDonagh classified PDGFRB as amber
Intracerebral calcification disorders SLC20A2 Ellen McDonagh classified SLC20A2 as amber
Intracerebral calcification disorders SLC20A2 Ellen McDonagh classified SLC20A2 as green
Intracerebral calcification disorders SLC20A2 Ellen McDonagh commented on SLC20A2
Intracerebral calcification disorders PDGFRB Ellen McDonagh classified PDGFRB as amber
Intracerebral calcification disorders PDGFRB Ellen McDonagh commented on PDGFRB
Intracerebral calcification disorders SAMHD1 Ellen McDonagh marked SAMHD1 as ready
Intracerebral calcification disorders SAMHD1 Ellen McDonagh classified SAMHD1 as green
Intracerebral calcification disorders RNASEH2C Ellen McDonagh marked RNASEH2C as ready
Intracerebral calcification disorders RNASEH2C Ellen McDonagh classified RNASEH2C as green
Intracerebral calcification disorders RNASEH2B Ellen McDonagh marked RNASEH2B as ready
Intracerebral calcification disorders RNASEH2B Ellen McDonagh classified RNASEH2B as green
Intracerebral calcification disorders RNASEH2A Ellen McDonagh marked RNASEH2A as ready
Intracerebral calcification disorders RNASEH2A Ellen McDonagh classified RNASEH2A as green