Calls for collaboration alphabetic table

Gene/Syndrome Date of publication Full title
3q29 May, 2021 Phenothype-Genotype relationships in 3q29-microduplication syndrome
AMER1 April, 2021 Osteopathia striata with cranial sclerosis: a further insight
ATL1 May, 2021 Search for patients with severe neonatal presentation due to mutations of the ATL1 gene
Targeted gene(s)/phenotype under study (to be quoted in the newsletter): ATL1
ATXN2 February, 2025 SCA2 in children
B4GALT5 March, 2021 B4GALT5 as potential candidate gene for a novel sphingolipid disorder
BCL11B June, 2021 BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature
BMP4 August, 2021 Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants
BUD23/TRMT112 October, 2021 Biallelic variants in BUD23 (WBSCR22) and TRMT112
CAMK2A April, 2021 CAMK2A-related neurodevelopmental disorder – description of the clinical and neurological phenotype
CDK10/Al Kaissi syndrome June, 2021 patients ‘cohort with homozygous or compound heterozygous mutations in CDK10 in order to better delineate the clinical spectrum and the natural history of Al Kaissi syndrome.
CHAMP1 February, 2021 CHAMP1 clinical spectrum (MRD40 – OMIM 616579)
CHD8 May, 2021 Genotype-phenotype correlation of the CHD8-related developmental disorder
CLCN7 February, 2023 Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant
CTNNA3 August, 2021 CTNNA3 microdeletion: a description of clinical features
Cutaneous skin mosaicism April, 2021 Correlation between intellectual disability and cutaneous skin mosaicism
DCAF15  May, 2021 Search for patients with de novo variants in DCAF15
DLX1 August, 2021 A novel neurodevelopmental disorders associated with heterozygous DLX1 variants
EEF1A2 August, 2021 Mild phenotype of EEF1A2 variants
EIF3I  May, 2021 De novo missense variants in EIF3I cause a novel neurodevelopmental disorder with midline brain defects and skeletal abnormalities.
ERLIN1 October, 2021 Biallelic mutations of ERLIN1
FOSL2 June, 2021 FOREIGN (FOSL2-related signs)
Geleophysic dysplasias September, 2021 Geleophysic and acromicric dysplasias: study of the natural history
GRIA November, 2021 Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment
HNRNPH2 April, 2021 Expanding the phenotype related to de novo missense variants in HNRNPH2
KBG syndrome August, 2021 KBG  syndrome evolving phenotype
KDM3 August, 2021 Development of a DNA methylation episignature for variants in KDM3
KDM4B September, 2021 KDM4B gene: clinical phenotype and methylation signature
KLHL11 May, 2021 KLHL11 pathogenic variant in patients with lichen planus, abnormalities of the nails and tumour pronenes
KMT2B May, 2021 KMT2B-related disorders without dystonia
Kosaki Syndrome September, 2021 Consortium for traiting Kosaki Syndrome
MAP3K7 June, 2021 MAP3K7-associated phenotype
MEF2C May, 2021 Molecular and phenotypic delineation of the MEF2C-related syndrome
MYCN March, 2021 MYCN gene
Myhre syndrome August, 2021 Defining Myhre syndrome in Adulthood
NSD1 April, 2021 Implication of missense variants in the NSD1 gene in Sotos-like phenotype
P4HTM October, 2021 Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants
PIGW November, 2021 Delineation of the phenotypic spectrum associated to PIGW bi-allelic variants and study of a genotype-phenotype correlation
POGZ June, 2021 POGZ variants in neurodevelopmental disorders
RAB10 March, 2021 RAB10: a candidate gene for a severe neurodevelopmental syndrome
RAI1 June, 2021 Search for patients with a deletion of the first 2 non-coding exons of the RAI1 gene
RBM10 February, 2024 Functional studies of variants in RBM10
SF1 September, 2021 SF1 variants in neurodevelopmental disorders
SKI September, 2021  long-term cardiological manifestations in patients with mutations in the SKI gene
SMARCC2 October, 2021 SMARCC2-related developmental delay, genotype-phenotype correlations
SNX13 May, 2021 Search for patients with patients with recessive variants in SNX13 gene
SP9 July, 2021 Search for patients harbouring a de novo heterozygous variant in SP9 gene
SPOP October, 2021 SPOP-related Neurodevelopmental Disorders
TAF2 May, 2021 Phenotype-genotype study of TAF2
TRA2B August, 2021 TRA2B-associated neurodevelopmental delay
TRIP12 April, 2021 TRIP12-associated neurodevelopmental disorder
UBA5, UFM1, UFC1,UFL1, MRE11 June, 2021 Search for patients with biallelic variants in genes implicated in the ufmylation pathway
WDR44  April, 2021 A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants
XPO7 August, 2021 XPO7-associated neurodevelopmental disorder
YWHAE May, 2021 Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants
ZBTB47/ZNF651 April, 2021 ZBTB47/ZNF651 variants
ZNF142 August, 2021 ZNF142-associated neurodevelopmental disorder
ZNF292 February, 2022 Expanding the phenotypic spectrum of the ZNF292