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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 v0.119 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