Common deletion and duplication syndromes
Region: ISCA-37430-LossMiller-Dieker syndrome, chromosome 17p13.3 deletion syndrome
GRCh38 Position: 1344539-2685615
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established CNV, LIS1 gene deletion associated with lissencephaly.
Sources: Expert listCreated: 4 Dec 2020, 1:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Miller-Dieker lissencephaly syndrome, MIM# 247200
Details
- ISCA ID
- ISCA-37430-Loss
- ISCA Region Name
- Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome
- Chromosome
- 17
- GRCh38 Coordinates
- 1344539-2685615
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 80%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Miller-Dieker lissencephaly syndrome, MIM# 247200
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37430-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37430-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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