ISCA-37425-Gain

2 panels

Panel	Reviews	Mode of inheritance	Details
Green ISCA-37425-Gain Region in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	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.
Green ISCA-37425-Gain Region in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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.

Panel

Reviews

Mode of inheritance

Details

Level 2: Neurology
Version 9.26
Latest signed off version: v9.13 (12 Aug 2026)

review

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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.

Level 2: Developmental disorders
Version 11.26
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

Hypotonic infant

Leukodystrophy, childhood onset

Paediatric disorders

review

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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.