Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ATR	gene	ATR	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal				Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000175054	ENSG00000175054	HGNC:882													
CCDC8	gene	CCDC8	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 3, 614205			Slender long bone;HP:0003100	21737058		False	3	0;0;0	0.29	False		ENSG00000169515	ENSG00000169515	HGNC:25367													
CDKN1C	gene	CDKN1C	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	IMAGE syndrome 614732			Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
CEP152	gene	CEP152	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 5, MIM# 613823;MONDO:0013443			Slender long bone;HP:0003100	21131973		False	3	100;0;0	0.29	True		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP295	gene	CEP295	Expert Review Green;Literature	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 11, OMIM # 620767			Slender long bone;HP:0003100	PMID: 38154379		False	3	100;0;0	0.29	True		ENSG00000166004	ENSG00000166004	HGNC:29366													
COG4	gene	COG4	Expert Review;Expert Review Green	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Saul-Wilson syndrome, OMIM:618150;Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407			Slender long bone;HP:0003100	30290151		False	3	100;0;0	0.29	True	Other	ENSG00000103051	ENSG00000103051	HGNC:18620													
CRIPT	gene	CRIPT	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature with microcephaly and distinctive facies (MIM#615789);Rothmund-Thomson syndrome MONDO:0010002			Slender long bone;HP:0003100	24389050;27250922;36630262;37013901		False	3	67;33;0	0.29	True		ENSG00000119878	ENSG00000119878	HGNC:14312													
CUL7	gene	CUL7	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 1 273750			Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000044090	ENSG00000044090	HGNC:21024													
DNA2	gene	DNA2	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 8, MIM#615807			Slender long bone;HP:0003100	24389050;31045292		False	3	0;0;0	0.29	False		ENSG00000138346	ENSG00000138346	HGNC:2939													
FAM111A	gene	FAM111A	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Gracile bone dysplasia 602361;Kenny-Caffey syndrome, type 2 127000			Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000166801	ENSG00000166801	HGNC:24725													
LARP7	gene	LARP7	Expert Review;Expert Review Green	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Alazami syndrome, MIM# 615071;Microcephalic primordial dwarfism, Alazami type MONDO:0014031			Slender long bone;HP:0003100	22865833;21937992;30006060;33569879		False	3	100;0;0	0.29	True		ENSG00000174720	ENSG00000174720	HGNC:24912													
OBSL1	gene	OBSL1	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 2, MIM #612921			Slender long bone;HP:0003100	21737058;19481195;23018678;19877176		False	3	100;0;0	0.29	True		ENSG00000124006	ENSG00000124006	HGNC:29092													
PCNT	gene	PCNT	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720;MONDO:0008872			Slender long bone;HP:0003100	18174396;12210304;30922925;33460028;32557621;32267100		False	3	100;0;0	0.29	True		ENSG00000160299	ENSG00000160299	HGNC:16068													
POLE	gene	POLE	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336			Slender long bone;HP:0003100	PMID: 30503519		False	3	0;0;0	0.29	False		ENSG00000177084	ENSG00000177084	HGNC:9177													
RBBP8	gene	RBBP8	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal				Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000101773	ENSG00000101773	HGNC:9891													
RNU4ATAC	gene	RNU4ATAC	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Roifman syndrome 616651;Microcephalic osteodysplastic primordial dwarfism, type I 210710			Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000264229	ENSG00000264229	HGNC:34016													
TBCE	gene	TBCE	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Kenny-Caffey syndrome, type 1 244460.;Hypoparathyroidism-retardation-dysmorphism syndrome 241410;Kenny-Caffey syndrome, type 1 244460			Slender long bone;HP:0003100			False	3	0;0;0	0.29	False		ENSG00000116957	ENSG00000116957	HGNC:11582													
TRAIP	gene	TRAIP	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 9, MIM# 616777			Slender long bone;HP:0003100	26595769		False	3	100;0;0	0.29	True		ENSG00000183763	ENSG00000183763	HGNC:30764													
XRCC4	gene	XRCC4	Expert Review Green;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature, microcephaly, and endocrine dysfunction (MIM#616541)			Slender long bone;HP:0003100	PMID: 25839420;25728776		False	3	0;0;0	0.29	False		ENSG00000152422	ENSG00000152422	HGNC:12831													
PRIM1	gene	PRIM1	Expert Review Amber;Literature	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005			Slender long bone;HP:0003100	33060134		False	2	0;100;0	0.29	True		ENSG00000198056	ENSG00000198056	HGNC:9369													
CENPE	gene	CENPE	Expert Review Red;Victorian Clinical Genetics Services	Microcephalic Primordial Dwarfism and Slender bone dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 13, primary, autosomal recessive (MIM#616051)			Slender long bone;HP:0003100	24748105;30086807		False	1	0;0;100	0.29	True		ENSG00000138778	ENSG00000138778	HGNC:1856