UFSP2

UFM1 specific peptidase 2
OMIM: 611482, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green UFSP2 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Hip dysplasia, Beukes type, MIM#142669 Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Green UFSP2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green UFSP2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green UFSP2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hip dysplasia, Beukes type, MIM#142669 Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974