PUS7

pseudouridylate synthase 7 (putative)
OMIM: 616261, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PUS7 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342
Green PUS7 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342
Green PUS7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342
Red PUS7 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342
Amber PUS7 in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342
Red PUS7 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes OMIM #618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature