New genes 

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

• Consult the Pubmed abstract

• To read more about “Encephalitis”

• Am J Med Genet A. 2019 Jul;179(7):1376-1382.

Developmental and epileptic encephalopathy caused by a recurrent missense variant in APM1

• Consult the Pubmed abstract

• To read more about “Myoclonic-astastic epilepsy”

• Am J Hum Genet. 2019 Jun 6;104(6):1060-1072

Neurodevelopmental disorders and epilepsy caused by heterozygous variants in KMT2E

• Consult the Pubmed abstract

• To read more about “Rare genetic intellectual disability”

• Am J Hum Genet. 2019 Jun 6;104(6):1210-1222

Intellectual disability and severe impairment of Wobble uridine modification caused by recessive truncating mutations in ALKBH8

• Consult the Pubmed abstract

• To read more about “Rare genetic intellectual disability”

• Am J Hum Genet. 2019 Jun 6;104(6):1202-1209

Zimmermann-Laband syndrome caused by mutations in KCNN3encoding the small-conductance Ca2+-activated K+ channel SK3

• Consult the Pubmed abstract

• To read more about “Zimmermann-Laband syndrome”

• Am J Hum Genet. 2019 Jun 6;104(6):1139-1157

Individuals and families with thoracic aortic aneurysms and dissections caused by SMAD4rare variants

• Consult the Pubmed abstract

• To read more about “Familial thoracic aortic aneurysm and aortic dissection”

• Eur J Hum Genet. 2019 Jul;27(7):1054-1060

Noonan syndrome caused by germline-activating RRAS2mutations

• Consult the Pubmed abstract

• To read more about “Noonan syndrome”

• Am J Hum Genet. 2019 Jun 6;104(6):1233-1240

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

• Consult the Pubmed abstract

• To read more about “Normal pressure hydrocephalus”

• Neurology. 2019 May 14;92(20):e2364-e2374

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

• Consult the Pubmed abstract

• To read more about “Fetal akinesia deformation sequence”

• Am J Med Genet A. 2019 Jul;179(7):1362-1365

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1variant within the GATA DNA-binding domain

• Consult the Pubmed abstract

• To read more about “Brachydactyly type E”

• Bone. 2019 Jun;123:153-158