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Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Marked Region: ISCA-37467-Gain as ready
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Classified Region: ISCA-37467-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.136 ISCA-37467-Gain Zornitza Stark Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787
Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies
Review for Region: ISCA-37467-Gain was set to GREEN
Added comment: The ZPA regulatory sequence (ZRS) of SHH is located within intron 5 of LMBR1.

Multiple reports of isolated and syndromic limb anomalies in association with duplications of this region.
Sources: Expert list
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Marked Region: ISCA-37442-Gain as ready
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Classified Region: ISCA-37442-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.134 ISCA-37442-Gain Zornitza Stark Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37442-Gain.
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 8842729
Phenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM# 601410
Review for Region: ISCA-37442-Gain was set to GREEN
Added comment: Transient neonatal diabetes mellitus-1 (TNDM1; '6q diabetes') is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains PLAGL1.

Three genetic mechanisms had been shown to result in TNDM: paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI (promoter of PLAGL1). Note that over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
Sources: Expert list
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Marked Region: ISCA-37417-Loss as ready
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Classified Region: ISCA-37417-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.132 ISCA-37417-Loss Zornitza Stark Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM# 308100
Review for Region: ISCA-37417-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Classified Region: ISCA-37433-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Region: isca-37433-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.130 ISCA-37433-Loss Elena Savva Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Review for Region: ISCA-37433-Loss was set to GREEN
Added comment: Established CNV
Sources: Expert list
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Marked Region: ISCA-37478-Gain as ready
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Region: isca-37478-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Classified Region: ISCA-37478-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Region: isca-37478-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.128 ISCA-37478-Gain Zornitza Stark Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Review for Region: ISCA-37478-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.127 Zornitza Stark removed region:ISCA-37478-Gain from the panel
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Marked Region: ISCA-37434-Loss as ready
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Phenotypes for Region: ISCA-37434-Loss were changed from Chromosome 1p36 deletion syndrome MIM#607872 to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Common deletion and duplication syndromes v0.125 ISCA-37434-Loss Zornitza Stark Classified Region: ISCA-37434-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.125 ISCA-37434-Loss Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Marked Region: ISCA-37433-Gain as ready
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Region: isca-37433-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Classified Region: ISCA-37433-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Region: isca-37433-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Marked Region: ISCA-37432-Loss as ready
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Phenotypes for Region: ISCA-37432-Loss were changed from Chromosome 17q12 deletion syndrome MIM#614527 to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Common deletion and duplication syndromes v0.122 ISCA-37432-Loss Zornitza Stark Classified Region: ISCA-37432-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.122 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Marked Region: ISCA-37432-Gain as ready
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Phenotypes for Region: ISCA-37432-Gain were changed from Chromosome 17q12 duplication syndrome 614526 to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Common deletion and duplication syndromes v0.120 ISCA-37432-Gain Zornitza Stark Classified Region: ISCA-37432-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.120 ISCA-37432-Gain Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.119 ISCA-37434-Loss Elena Savva Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872
Review for Region: ISCA-37434-Loss was set to GREEN
Added comment: Established CNV

The majority of deletions occur on the maternal chromosome.

Features include: Microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%), skeletal anomalies (41%), abnormal genitalia (25%), renal abnormalities (22%), hypotonia (95%), seizures (44%), sensorineural deafness (28%)
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37433-Gain Elena Savva Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Review for Region: ISCA-37433-Gain was set to GREEN
Added comment: Established CNV

Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.
Patients have been reported as both de novo and having inherited the dup from a healthy parent
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37432-Loss Elena Savva Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527
Review for Region: ISCA-37432-Loss was set to GREEN
Added comment: Established CNV

Includes HNF1B resulting in renal cysts and diabetes syndrome - cognitive impairment impairment is rare
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37432-Gain Elena Savva Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526
Review for Region: ISCA-37432-Gain was set to GREEN
Added comment: Established CNV

Cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain.

OMIM notes healthy carriers with minor behavioural issues have been reported
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Marked Region: ISCA-37431-Loss as ready
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Region: isca-37431-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Classified Region: ISCA-37431-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Region: isca-37431-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.118 ISCA-37431-Loss Zornitza Stark Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Review for Region: ISCA-37431-Loss was set to GREEN
Added comment: Approximately 5 to 20% of all individuals with NF1 have a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions. The 'NF1 microdeletion syndrome' is often characterised by a more severe phenotype than that observed in the majority of NF1 patients. In particular, there is often variable facial dysmorphism, intellectual disability, an excessive number of early-onset neurofibromas, and an increased risk for malignant peripheral nerve sheath tumours.
Sources: Expert list
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Marked Region: ISCA-37431-Gain as ready
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Classified Region: ISCA-37431-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.116 ISCA-37431-Gain Zornitza Stark Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Gain were set to 22241097
Phenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features
Review for Region: ISCA-37431-Gain was set to GREEN
Added comment: The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported
Sources: Expert list
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Marked Region: ISCA-37430-Loss as ready
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Classified Region: ISCA-37430-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.114 ISCA-37430-Loss Zornitza Stark Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Review for Region: ISCA-37430-Loss was set to GREEN
Added comment: Well established CNV, LIS1 gene deletion associated with lissencephaly.
Sources: Expert list
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Marked Region: ISCA-37430-Gain as ready
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Classified Region: ISCA-37430-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.112 ISCA-37430-Gain Zornitza Stark Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37430-Gain.
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability
Review for Region: ISCA-37430-Gain was set to GREEN
Added comment: Well established CNV, involving the LIS1 and/or YWHAE genes. Individuals with LIS1 duplications have brain abnormalities, including microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tend to have macrosomia, facial dysmorphism, and mild developmental delay.
Sources: Expert list
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Classified Region: ISCA-37429-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.110 ISCA-37429-Loss Zornitza Stark Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Review for Region: ISCA-37429-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark edited their review of Region: ISCA-37425-Loss: Changed phenotypes: Sotos syndrome, chromosome 5q35 deletion, intellectual disability, overgrowth
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Phenotypes for Region: ISCA-37425-Loss were changed from to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Common deletion and duplication syndromes v0.108 ISCA-37425-Loss Zornitza Stark Classified Region: ISCA-37425-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.108 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.107 ISCA-37425-Loss Zornitza Stark Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Review for Region: ISCA-37425-Loss was set to GREEN
Added comment: Deletions of NSD1 are a common cause of Sotos syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Marked Region: ISCA-37425-Gain as ready
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Classified Region: ISCA-37425-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.105 ISCA-37425-Gain Zornitza Stark Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37425-Gain.
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Gain were set to 24819041
Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures
Review for Region: ISCA-37425-Gain was set to GREEN
Added comment: Reciprocal duplication including NSD1, supporting gene dosage effect of NSD1 on growth regulation and neurological function.
Sources: Expert list
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Marked Region: ISCA-37424-Loss as ready
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Classified Region: ISCA-37424-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.103 ISCA-37424-Loss Zornitza Stark Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37424-Loss.
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37424-Loss were set to 20345475; 25846706
Phenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly
Review for Region: ISCA-37424-Loss was set to GREEN
Added comment: Established CNV. Note deletions typically include BMPR1A and sometimes PTEN, which have implications for cancer surveillance.
Sources: Expert list
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Marked Region: ISCA-37423-Loss as ready
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Classified Region: ISCA-37423-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.101 ISCA-37423-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37423-Loss.
Common deletion and duplication syndromes v0.101 ISCA-37423-Loss Zornitza Stark Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay
Review for Region: ISCA-37423-Loss was set to GREEN
Added comment: Well established CNV. Deletion of GATA4 linked to congenital heart defects.
Sources: Expert list
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Marked Region: ISCA-37423-Gain as ready
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Classified Region: ISCA-37423-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.99 ISCA-37423-Gain Zornitza Stark Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37423-Gain.
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Review for Region: ISCA-37423-Gain was set to GREEN
Added comment: Well established CNV. Duplication of GATA4 is thought to be responsible for the association with congenital heart disease.
Sources: Expert list
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Marked Region: ISCA-37446-Gain as ready
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome MIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark edited their review of Region: ISCA-37446-Gain: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark reviewed Region: ISCA-37446-Gain: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D; Mode of inheritance: None
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark Classified Region: ISCA-37446-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Marked Region: ISCA-37443-Loss as ready
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism
Common deletion and duplication syndromes v0.95 ISCA-37443-Loss Zornitza Stark Classified Region: ISCA-37443-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.95 ISCA-37443-Loss Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Marked Region: ISCA-37441-Loss as ready
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Phenotypes for Region: ISCA-37441-Loss were changed from Potocki-Shaffer syndrome MIM#601224 to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Common deletion and duplication syndromes v0.93 ISCA-37441-Loss Zornitza Stark Classified Region: ISCA-37441-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.93 ISCA-37441-Loss Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.92 ISCA-37436-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37436-Loss.
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Marked Region: ISCA-37440-Loss as ready
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Phenotypes for Region: ISCA-37440-Loss were changed from 2p21 deletion syndrome to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Common deletion and duplication syndromes v0.91 ISCA-37440-Loss Zornitza Stark Classified Region: ISCA-37440-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.91 ISCA-37440-Loss Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Marked Region: ISCA-37439-Gain as ready
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Region: isca-37439-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Classified Region: ISCA-37439-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Region: isca-37439-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Marked Region: ISCA-37436-Loss as ready
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Common deletion and duplication syndromes v0.88 ISCA-37436-Loss Zornitza Stark Classified Region: ISCA-37436-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.88 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.87 ISCA-37436-Loss Zornitza Stark reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, recurrent, with pressure palsies, MIM# 162500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.87 ISCA-37468-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37468-Loss.
Common deletion and duplication syndromes v0.87 ISCA-37493-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37493-Loss.
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Marked Region: ISCA-37436-Gain as ready
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Phenotypes for Region: ISCA-37436-Gain were changed from Charcot-Marie-Tooth disease type 1A to Charcot-Marie-Tooth disease type 1A, MIM#118220
Common deletion and duplication syndromes v0.86 ISCA-37436-Gain Zornitza Stark Classified Region: ISCA-37436-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.86 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Marked Region: ISCA-37421-Loss as ready
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Classified Region: ISCA-37421-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.84 ISCA-37421-Loss Zornitza Stark Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37421-Loss.
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Loss were set to 32655619
Phenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM# 612474; intellectual disability; microcephaly; congenital anomalies
Review for Region: ISCA-37421-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Marked Region: ISCA-37421-Gain as ready
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Classified Region: ISCA-37421-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.82 ISCA-37421-Gain Zornitza Stark Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37421-Gain.
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Gain were set to 32655619
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM# 612475; intellectual disability; autism; macrocephaly
Review for Region: ISCA-37421-Gain was set to GREEN
Added comment: Well established CNV
Sources: Expert list
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Marked Region: ISCA-37420-Loss as ready
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Classified Region: ISCA-37420-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.80 ISCA-37420-Loss Zornitza Stark Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37420-Loss.
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, MIM# 610443; intellectual disability; hypotonia; dysmorphic features
Review for Region: ISCA-37420-Loss was set to GREEN
Added comment: Well established CNV, features of KDVS due to KANSL1 deletion.
Sources: Expert list
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Marked Region: ISCA_37418-Loss as ready
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Classified Region: ISCA_37418-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.78 ISCA_37418-Loss Zornitza Stark Region: ISCA_37418-Loss was added
Region: ISCA_37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA_37418-Loss.
Mode of inheritance for Region: ISCA_37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA_37418-Loss were set to Smith-Magenis syndrome, MIM# 182290; intellectual disability; dysmorphic features; behavioural issues
Review for Region: ISCA_37418-Loss was set to GREEN
Added comment: Well established CNV, features of SMS due to RAI1 deletion.
Sources: Expert list
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Marked Region: ISCA-37418-Gain as ready
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Classified Region: ISCA-37418-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.76 ISCA-37418-Gain Zornitza Stark Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies
Review for Region: ISCA-37418-Gain was set to GREEN
Added comment: Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37441-Loss Elena Savva Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224
Review for Region: ISCA-37441-Loss was set to GREEN
Added comment: Established CNV

Craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37440-Loss Elena Savva Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome
Review for Region: ISCA-37440-Loss was set to GREEN
Added comment: Established CNV

Includes the deletion of SLC3A1, PREPL, C2orf34 and PPM1B

Hypotonia-cystinuria syndrome is the deletion of only SLC3A1 and PREPL
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37439-Gain Elena Savva Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37439-Gain 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 Region: ISCA-37439-Gain were set to PMID: 20004760
Phenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Review for Region: ISCA-37439-Gain was set to GREEN
Added comment: Established CNV

3 mothers, who were more mildly affected with learning difficulties, also carried the duplication with non-random X inactivation.

Causes mental retardation, both syndromic and non syndromic
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37436-Loss Elena Savva Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093
Phenotypes for Region: ISCA-37436-Loss were set to Hereditary neuropathy with liability to pressure palsies
Review for Region: ISCA-37436-Loss was set to GREEN
Added comment: Established CNV

Deletion of PMP22 the main cause of disease, which may include psychiatric conditions

Thickening of the myelin sheath, called “tomacula”, is considered the hallmark of the disease
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37436-Gain Elena Savva Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to PMID: 32648354
Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A
Review for Region: ISCA-37436-Gain was set to GREEN
Added comment: It is suspected that de novo CMT1A cases tend to exhibit relatively mild symptoms compared to non‐de novo cases
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37486-Loss Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Common deletion and duplication syndromes v0.74 ISCA-37486-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37486-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37446-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Common deletion and duplication syndromes v0.73 ISCA-37446-Loss Zornitza Stark Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Classified Region: ISCA-37446-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37446-Loss Zornitza Stark reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671380; Phenotypes: Chromosome 22q11.2 deletion syndrome, distal MIM#611867, intellectual disability, autism, multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.71 ISCA-37446-Gain Elena Savva Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Review for Region: ISCA-37446-Gain was set to GREEN
Added comment: Established CNV

Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.

Both de novo and familial reports
Sources: Expert list
Common deletion and duplication syndromes v0.71 ISCA-37443-Loss Elena Savva Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115
Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425
Review for Region: ISCA-37443-Loss was set to GREEN
Added comment: Established CNV

Patients have intellectual disabilities, a history of autism and psychiatric symptoms.

The region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2.

Both familial and de novo reports
Sources: Expert list
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Marked Region: ISCA-37486-Loss as ready
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Common deletion and duplication syndromes v0.70 ISCA-37486-Loss Zornitza Stark Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Common deletion and duplication syndromes v0.69 ISCA-37486-Loss Zornitza Stark Classified Region: ISCA-37486-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.69 ISCA-37486-Loss Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.68 ISCA-37486-Loss Zornitza Stark reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 32993859, 32732550, 32597026, 32537635; Phenotypes: Chromosome 16p11.2 deletion syndrome MIM#611913, distal BP2-BP3, intellectual disability, autism, obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.68 ISCA-37446-Loss Elena Savva Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867
Review for Region: ISCA-37446-Loss was set to GREEN
Added comment: Established CNV

Usually de novo
All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve.
Sources: Expert list
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Marked Region: ISCA-37493-Loss as ready
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Phenotypes for Region: ISCA-37493-Loss were changed from 1q43q44 microdeletion syndrome to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Common deletion and duplication syndromes v0.67 ISCA-37493-Loss Zornitza Stark Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Common deletion and duplication syndromes v0.66 ISCA-37493-Loss Zornitza Stark Classified Region: ISCA-37493-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.66 ISCA-37493-Loss Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.65 ISCA-37493-Loss Zornitza Stark reviewed Region: ISCA-37493-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31929334, 31830750, 30853971; Phenotypes: 1q43q44 microdeletion syndrome, intellectual disability, seizures, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Marked Region: ISCA-37494-Gain as ready
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Phenotypes for Region: ISCA-37494-Gain were changed from Chromosome Xq28 duplication syndrome MIM#300815 to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Common deletion and duplication syndromes v0.64 ISCA-37494-Gain Zornitza Stark Publications for Region: ISCA-37494-Gain were set to PMID: 25927380
Common deletion and duplication syndromes v0.63 ISCA-37494-Gain Zornitza Stark Classified Region: ISCA-37494-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.63 ISCA-37494-Gain Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.62 ISCA-37494-Gain Zornitza Stark reviewed Region: ISCA-37494-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301461, 32043567, 32112660; Phenotypes: Chromosome Xq28 duplication syndrome MIM#300815, intellectual disability, hypotonia, seizures, spasticity, recurrent respiratory infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Marked Region: ISCA-37500-Loss as ready
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Phenotypes for Region: ISCA-37500-Loss were changed from Chromosome 15q25 deletion syndrome MIM#614294 to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Common deletion and duplication syndromes v0.61 ISCA-37500-Loss Zornitza Stark Publications for Region: ISCA-37500-Loss were set to PMID: 20921022
Common deletion and duplication syndromes v0.60 ISCA-37500-Loss Zornitza Stark Classified Region: ISCA-37500-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.60 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.59 ISCA-37500-Loss Zornitza Stark reviewed Region: ISCA-37500-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 24352913; Phenotypes: Chromosome 15q25 deletion syndrome MIM#614294, intellectual disability, congenital abnormalities, haematological abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Marked Region: ISCA-37501-Loss as ready
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Phenotypes for Region: ISCA-37501-Loss were changed from Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension
Common deletion and duplication syndromes v0.58 ISCA-37501-Loss Zornitza Stark Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Common deletion and duplication syndromes v0.57 ISCA-37501-Loss Zornitza Stark Classified Region: ISCA-37501-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.57 ISCA-37501-Loss Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.56 ISCA-37501-Loss Zornitza Stark reviewed Region: ISCA-37501-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31151956, 30639323; Phenotypes: Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355, intellectual disability, microcephaly, congenital anomalies, pulmonary hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Marked Region: ISCA-46290-Gain as ready
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Phenotypes for Region: ISCA-46290-Gain were changed from Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Common deletion and duplication syndromes v0.55 ISCA-46290-Gain Zornitza Stark Publications for Region: ISCA-46290-Gain were set to PMID: 19716111
Common deletion and duplication syndromes v0.54 ISCA-46290-Gain Zornitza Stark Classified Region: ISCA-46290-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.54 ISCA-46290-Gain Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.53 ISCA-46290-Gain Zornitza Stark reviewed Region: ISCA-46290-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 27605428, 29707408, 16900295; Phenotypes: Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801, intellectual disability, seizures; Mode of inheritance: None
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Marked Region: ISCA-46295-Loss as ready
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Phenotypes for Region: ISCA-46295-Loss were changed from Chromosome 15q13.3 microdeletion syndrome MIM#612001 to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Common deletion and duplication syndromes v0.52 ISCA-46295-Loss Zornitza Stark Mode of inheritance for Region: ISCA-46295-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.51 ISCA-46295-Loss Zornitza Stark Classified Region: ISCA-46295-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.51 ISCA-46295-Loss Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.50 ISCA-46295-Loss Zornitza Stark reviewed Region: ISCA-46295-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 15q13.3 microdeletion syndrome MIM#612001, intellectual disability, seizures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Marked Region: ISCA-37478-Loss as ready
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Region: isca-37478-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Classified Region: ISCA-37478-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Region: isca-37478-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.49 ISCA-37478-Loss Zornitza Stark Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Review for Region: ISCA-37478-Loss was set to GREEN
Added comment: Well established CNV. Deletion classes The deletion classes are subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively).
Sources: Expert list
Common deletion and duplication syndromes v0.48 Zornitza Stark removed region:ISCA-37478-Loss from the panel
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark commented on Region: ISCA-37468-Loss: Contiguous gene deletion syndrome, RP2 responsible for retinal dystrophy. ID not observed in individuals with deletions involving RP2 and ZNF630, arguing against involvement of ZNF630 in the ID component observed with larger deletions.
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Marked Region: ISCA-37468-Loss as ready
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578 to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Common deletion and duplication syndromes v0.46 ISCA-37468-Loss Zornitza Stark Classified Region: ISCA-37468-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.46 ISCA-37468-Loss Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.45 ISCA-37468-Loss Zornitza Stark reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome Xp11.3 deletion syndrome MIM#300578, intellectual disability, retinal dystrophy; Mode of inheritance: None
Common deletion and duplication syndromes v0.45 ISCA-37468-Loss Elena Savva Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37468-Loss 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 Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789
Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578
Review for Region: ISCA-37468-Loss was set to GREEN
Added comment: Established CNV

One-third of XL retinal dystrophies are accounted for by RP2 mutations at the Xp11.23 locus.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37500-Loss Elena Savva commented on Region: ISCA-37500-Loss: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.

Contains an imprinted region
Common deletion and duplication syndromes v0.45 ISCA-37486-Loss Elena Savva Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913
Review for Region: ISCA-37486-Loss was set to GREEN
Added comment: Established CNV

The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%)

One subject with the deletion was asymptomatic
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37493-Loss Elena Savva Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome
Review for Region: ISCA-37493-Loss was set to GREEN
Added comment: Established CNV

AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37494-Gain Elena Savva Region: ISCA-37494-Gain was added
Region: ISCA-37494-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37494-Gain 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 Region: ISCA-37494-Gain were set to PMID: 25927380
Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Review for Region: ISCA-37494-Gain was set to GREEN
Added comment: Established CNV

This syndrome has recently been described in 9 males with cognitive impairment, behavioral problems, and distinctive facial features; and 6 females with milder phenotypes.

Prenatally diagnosed de novo int22h1/int22h2-mediated deletion in a healthy female infant.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37500-Loss Elena Savva Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to PMID: 20921022
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294
Review for Region: ISCA-37500-Loss was set to GREEN
Added comment: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37501-Loss Elena Savva Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-46290-Gain Elena Savva Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to PMID: 19716111
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
Review for Region: ISCA-46290-Gain was set to GREEN
Added comment: Males and females affected - Most affected females show preferential activation of the duplicated X chromosome.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-46295-Loss Elena Savva Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001
Review for Region: ISCA-46295-Loss was set to GREEN
Added comment: Well established CNV

PMID: 19289393: incomplete penetrance well reported for autism, mental retardation, and psychiatric disorders

Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024)
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Marked Region: ISCA-37415-Loss as ready
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Classified Region: ISCA-37415-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.44 ISCA-37415-Loss Zornitza Stark Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Loss.
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Loss were set to 24105370; 23637818; 22523559
Phenotypes for Region: ISCA-37415-Loss were set to 16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy
Review for Region: ISCA-37415-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Marked Region: ISCA-37415-Gain as ready
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Classified Region: ISCA-37415-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.42 ISCA-37415-Gain Zornitza Stark Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Gain.
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Gain were set to 30287593
Phenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy
Review for Region: ISCA-37415-Gain was set to GREEN
Added comment: 16p13.11 are associated with DD/ID/autism. Duplication contains MYH11, and there is also evidence of association with aortopathy.
Sources: Expert list
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Marked Region: ISCA-37411-Loss as ready
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Classified Region: ISCA-37411-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.40 ISCA-37411-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37411-Loss.
Common deletion and duplication syndromes v0.40 ISCA-37411-Loss Zornitza Stark Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196
Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Review for Region: ISCA-37411-Loss was set to GREEN
Added comment: Well established CNV, variable penetrance and expressivity. Individuals with homozygous deletions have neurodevelopmental problems, hypotonia, epileptic encephalopathy.
Sources: Expert list
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Marked Region: ISCA-37408-Loss as ready
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Classified Region: ISCA-37408-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.38 ISCA-37408-Loss Zornitza Stark Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37408-Loss.
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37408-Loss were set to 25938782; 16963482
Phenotypes for Region: ISCA-37408-Loss were set to Chromosome 2p16.1-p15 deletion syndrome 612513; intellectual disability; autism; microcephaly; dysmorphic features
Review for Region: ISCA-37408-Loss was set to GREEN
Added comment: Well established recurrent CNV, deletions are characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene also have persistence of fetal hemoglobin (HbF), which is asymptomatic.
Sources: Expert list
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Marked Region: ISCA-37406-Loss as ready
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37406-Loss.
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Classified Region: ISCA-37406-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.36 ISCA-37406-Loss Zornitza Stark Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Review for Region: ISCA-37406-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Classified Region: ISCA-37405-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.34 ISCA-37405-Loss Zornitza Stark Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Review for Region: ISCA-37405-Loss was set to GREEN
Added comment: NPHP1 deletions are frequent, and can either be homozygous or compound heterozygous with SNVs, and result in a range of ciliopathies.
Sources: Expert list
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark changed review comment from: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted.
Sources: Expert list; to: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted.
Sources: Expert list
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome, MIM# 105830, Prader-Willi syndrome, MIM# 176270
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Marked Region: ISCA-37404-Loss as ready
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Loss.
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Phenotypes for Region: ISCA-37404-Loss were changed from Angelman syndrome, MIM# 105830 to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Common deletion and duplication syndromes v0.32 ISCA-37404-Loss Zornitza Stark Classified Region: ISCA-37404-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.32 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.31 ISCA-37404-Loss Zornitza Stark Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830
Review for Region: ISCA-37404-Loss was set to GREEN
Added comment: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted.
Sources: Expert list
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Marked Region: ISCA-37404-Gain as ready
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Classified Region: ISCA-37404-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.29 ISCA-37404-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Gain.
Common deletion and duplication syndromes v0.29 ISCA-37404-Gain Zornitza Stark Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37404-Gain were set to 24239951; 24075935
Phenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia
Review for Region: ISCA-37404-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-46299-Gain.
Common deletion and duplication syndromes v0.28 ISCA-37401-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37401-Loss.
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Marked Region: ISCA-46299-Gain as ready
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Classified Region: ISCA-46299-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.27 ISCA-46299-Gain Elena Savva Region: ISCA-46299-Gain was added
Region: ISCA-46299-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46299-Gain 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 Region: ISCA-46299-Gain were set to PMID: 22840365
Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705
Review for Region: ISCA-46299-Gain was set to GREEN
Added comment: Well known CNV
Sources: Expert list
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Marked Region: ISCA-37401-Loss as ready
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Region: isca-37401-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Classified Region: ISCA-37401-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Region: isca-37401-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.26 ISCA-37401-Loss Zornitza Stark Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, MIM# 194072
Review for Region: ISCA-37401-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Classified Region: ISCA-37400-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Loss.
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Review for Region: ISCA-37400-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Gain.
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Marked Region: ISCA-37400-Gain as ready
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Classified Region: ISCA-37400-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.22 ISCA-37400-Gain Zornitza Stark Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM# 614671; intellectual disability; autism
Review for Region: ISCA-37400-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Marked Region: ISCA-37397-Loss as ready
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Classified Region: ISCA-37397-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.20 ISCA-37397-Loss Zornitza Stark changed review comment from: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list; to: Well established recurrent CNV, distinct from the proximal 22q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.20 ISCA-37397-Loss Zornitza Stark Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37397-Loss.
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Review for Region: ISCA-37397-Loss was set to GREEN
Added comment: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Marked Region: ISCA-37397-Gain as ready
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Classified Region: ISCA-37397-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.18 ISCA-37397-Gain Zornitza Stark Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37397-Gain.
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Gain were set to 21671380; 31479204
Phenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies
Review for Region: ISCA-37397-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.17 ISCA-37394-Loss Zornitza Stark Phenotypes for Region: ISCA-37394-Loss were changed from Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Marked Region: ISCA-37396-Loss as ready
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Classified Region: ISCA-37396-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.15 ISCA-37396-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37396-Loss.
Common deletion and duplication syndromes v0.15 ISCA-37396-Loss Zornitza Stark Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.14 ISCA-37392-Gain Zornitza Stark Phenotypes for Region: ISCA-37392-Gain were changed from 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation to Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Common deletion and duplication syndromes v0.13 ISCA-37392-Gain Zornitza Stark edited their review of Region: ISCA-37392-Gain: Changed phenotypes: Chromosome 7q11.23 duplication syndrome, MIM# 609757, intellectual disability, hypotonia, macrocephaly, seizures, aortic dilatation
Common deletion and duplication syndromes v0.13 ISCA-37394-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37394-Loss.
Common deletion and duplication syndromes v0.13 ISCA-37392-Loss Zornitza Stark Phenotypes for Region: ISCA-37392-Loss were changed from Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease
Common deletion and duplication syndromes v0.12 ISCA-37392-Loss Zornitza Stark edited their review of Region: ISCA-37392-Loss: Changed phenotypes: Williams-Beuren syndrome, MIM# 194050, intellectual disability, growth retardation, cardiovascular disease
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Marked Region: ISCA-37394-Loss as ready
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Classified Region: ISCA-37394-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.11 ISCA-37394-Loss Zornitza Stark Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37394-Loss were set to 20691407
Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability
Review for Region: ISCA-37394-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.10 ISCA-37390-Loss Zornitza Stark Phenotypes for Region: ISCA-37390-Loss were changed from Cri-du-chat syndrome; intellectual disability; microcephaly to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Common deletion and duplication syndromes v0.9 ISCA-37390-Loss Zornitza Stark edited their review of Region: ISCA-37390-Loss: Changed phenotypes: Cri-du-chat syndrome MIM#123450, intellectual disability, microcephaly
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Classified Region: ISCA-37393-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.8 ISCA-37393-Gain Zornitza Stark Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Review for Region: ISCA-37393-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Marked Region: ISCA-37392-Loss as ready
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Classified Region: ISCA-37392-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.6 ISCA-37392-Loss Zornitza Stark Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37392-Loss.
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease
Review for Region: ISCA-37392-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37392-Gain.
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Marked Region: ISCA-37392-Gain as ready
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Classified Region: ISCA-37392-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.4 ISCA-37392-Gain Zornitza Stark Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320
Phenotypes for Region: ISCA-37392-Gain were set to 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Review for Region: ISCA-37392-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Marked Region: ISCA-37390-Loss as ready
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Publications for Region: ISCA-37390-Loss were set to
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark edited their review of Region: ISCA-37390-Loss: Changed publications: 16953888
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37390-Loss.
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Classified Region: ISCA-37390-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.1 ISCA-37390-Loss Zornitza Stark Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome; intellectual disability; microcephaly
Review for Region: ISCA-37390-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.0 Zornitza Stark Added Panel Common deletion and duplication syndromes
Set panel types to: Victorian Clinical Genetics Services; Rare Disease