Severe microcephaly

Region: ISCA-37425-Gain

5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain

Green List (high evidence)

Chromosome: 5
GRCh38 Position: 176301975-177586960
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this region Green
Created: 29 Jul 2019, 4:20 p.m. | Last Modified: 29 Jul 2019, 4:20 p.m.
Panel Version: 1.62

Details

ISCA ID
ISCA-37425-Gain
ISCA Region Name
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
Chromosome
5
GRCh38 Coordinates
176301975-177586960
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • Microcephaly, short stature and developmental delay
  • short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Changed Haploinsufficiency Score, Added New Source

Louise Daugherty (Genomics England Curator)

Haploinsufficiency Score for ISCA-37425-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37425-Gain.

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37425-Gain was added Region: ISCA-37425-Gain was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694 Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.